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Gene: Chsy1 MGI:2681120

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Gene Summary

Name:
chondroitin sulfate synthase 1
Synonyms:
skt

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Chsy1em1(IMPC)Mbp HOM   Early adult 4.29×10-05
hydrocephaly Chsy1em1(IMPC)Mbp HOM Early adult 0.00
enlarged cecum Chsy1em1(IMPC)Mbp HOM Early adult 0.00
urinary bladder obstruction Chsy1em1(IMPC)Mbp HOM Early adult 0.00
corneal opacity Chsy1em1(IMPC)Mbp HOM Early adult 3.33×10-10
abnormal spleen morphology Chsy1em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Chsy1em1(IMPC)Mbp HOM   Early adult 2.88×10-06
enlarged spleen Chsy1em1(IMPC)Mbp HOM Early adult 0.00
cataract Chsy1em1(IMPC)Mbp HOM Early adult 8.95×10-06
abnormal brain morphology Chsy1em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Chsy1em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Chsy1em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Chsy1em1(IMPC)Mbp HOM Early adult 0.00
abnormal cecum morphology Chsy1em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Chsy1em1(IMPC)Mbp HOM Early adult 0.00
decreased bone mineral content Chsy1em1(IMPC)Mbp HOM Early adult 2.49×10-14
decreased body length Chsy1em1(IMPC)Mbp HOM Early adult 4.96×10-07
decreased brain size Chsy1em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Chsy1em1(IMPC)Mbp HOM Early adult 0.00
small liver Chsy1em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Chsy1em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Chsy1em1(IMPC)Mbp HOM Early adult 0.00
abnormal bone structure Chsy1em1(IMPC)Mbp HOM Early adult 1.77×10-13
abnormal eye morphology Chsy1em1(IMPC)Mbp HOM Early adult 0.00
decreased grip strength Chsy1em1(IMPC)Mbp HOM Early adult 4.16×10-07
decreased bone mineral density Chsy1em1(IMPC)Mbp HOM Early adult 2.43×10-05
increased mean corpuscular volume Chsy1em1(IMPC)Mbp HOM   Early adult 7.15×10-05
abnormal vitreous body morphology Chsy1em1(IMPC)Mbp HOM Early adult 3.28×10-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Histopathology

Images

1 Images

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Human diseases caused by Chsy1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Chsy1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyl... OMIM:605282
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Abnorm... ORPHA:363417

The table below shows human diseases predicted to be associated to Chsy1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coxa Vara
Coxa vara OMIM:122750
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular... OMIM:156530
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... ORPHA:93351
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Achondrogenesis Type 2
Abnormal bone ossification, Abnormal vitreous humor morphology, Delayed pubic bone ossification, ... ORPHA:93296
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Osteochondrosis Of The Metatarsal Bone
Osteochondrosis, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis,... ORPHA:564003
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,... OMIM:151210
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... OMIM:300863
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Platyspondyly, Disloc... OMIM:618395
Tibial Hemimelia
Absent tibia OMIM:275220
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Generalized osteosclerosis, Short... OMIM:215045
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Metaphyseal striations, Delayed epiphyseal ossification,... OMIM:618889
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Lumbar platyspondyly, Narrow chest, Increased intervertebral space, ... OMIM:618961
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Joint subluxation, Abnormality of the os naviculare pedis, Knee ... ORPHA:566943
Osteochondrosis Of The Tarsal Bone
Osteochondritis dissecans, Tarsal sclerosis, Arthritis, Chondritis, Abnormal tarsal ossification,... ORPHA:563991
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Osseous Heteroplasia, Progressive
Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth OMIM:166350
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowin... OMIM:166210
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Anemia, Calvarial osteosclerosis, Slender long bone, Thin ribs, D... OMIM:244460
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Short ribs, Splenomegaly, Metaphyseal irregularity, Joint hypermobi... OMIM:602557
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Calvarial osteosclerosis, Thin ribs, Delayed cranial suture closure, Decreased sk... ORPHA:93324
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Osteogenesis Imperfecta, Type Iii
Slender long bone, Wide anterior fontanel, Scoliosis, Tibial bowing, Thin ribs, Kyphosis, Multipl... OMIM:259420
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Cone... OMIM:602271
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Abnormal diaphysis morphology, Generalized bone demineralization, Nar... ORPHA:73230
Osteogenesis Imperfecta, Type X
Tibial bowing, Thoracic hypoplasia, Joint hypermobility, Broad ribs, Fibular bowing, Rhizomelia, ... OMIM:613848
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Schneckenbecken Dysplasia
Lateral clavicle hook, Narrow chest, Snail-like ilia, Short long bone, Flat acetabular roof, Shor... OMIM:269250
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Femoral bowing, Wormian bones, Bowing of the long bone... OMIM:617952
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Bone Dysplasia, Lethal Holmgren Type
Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Rhizomelia, Anemia... ORPHA:1842
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Wormian bones, Broad palm, Short finger, ... OMIM:300232
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ... ORPHA:79106
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Femoral bowing, Short metacarpal, Decreased skull ossification, Kyphosis, Multiple... OMIM:610915
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno... ORPHA:1426
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... ORPHA:2619
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo... OMIM:228520
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me... OMIM:617974
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Coxa vara, ... ORPHA:2114
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide distal femoral metaphysis, Bell-shaped thorax, Delayed epiphyseal ossification, Metaphyseal ... OMIM:613320
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic... OMIM:620076
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox... OMIM:609324
3M Syndrome
Rocker bottom foot, Hyperlordosis, Enlarged thorax, Kyphosis, Hypoplastic pelvis, Hypoplastic isc... ORPHA:2616
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Thin ribs, Decreased calvarial ossification, Micrognathia, Brachydactyly, Cran... OMIM:618265
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os... ORPHA:50809
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Prieto Syndrome
Radial deviation of finger, 11 pairs of ribs, Osteoporosis, Coxa valga, Patellar dislocation, Pat... OMIM:309610
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari... ORPHA:93360
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Achondrogenesis, Type Ia
Hypoplastic sacrum, Abnormal foot bone ossification, Broad clavicles, Abnormal hand bone ossifica... OMIM:200600
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Narrow chest, Short ribs, Hypoplastic ilia, Microm... OMIM:600972
Hypophosphatasia, Infantile
Anemia, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Micromelia, Decreased calva... OMIM:241500
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh... ORPHA:93308
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Wormian bones, Short ribs, Decreased skull ossification, Decreased... OMIM:616897
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, Kyphosis, S... OMIM:618392
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Narrow chest, Short long bone, Limitation of joint mobility, Bowing... OMIM:224400
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Narrow iliac wing, Thin ribs, Wormian bones, Pectus exca... OMIM:616294
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, S... OMIM:600969
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... OMIM:250420
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Single transverse palmar crease, 2-3 toe s... OMIM:617866
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... ORPHA:56304
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short long bone, Split hand, Limitation of ... OMIM:252600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Joint stiffness, Biconcave vertebral b... ORPHA:166011
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Winchester Syndrome
Carpal osteolysis, Arthropathy, Broad metacarpals, Kyphosis, Generalized osteoporosis, Osteolysis... OMIM:277950
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology, Diaphyseal undertubulation, Craniofacial hyperostosis ORPHA:1513
Spondylometaphyseal Dysplasia, Corner Fracture Type
Corner fracture of metaphysis, Coxa vara, Hypoplasia of the odontoid process, Short femoral neck,... OMIM:184255
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Narrow chest, Splenic cyst, Thin ribs, Short long bone,... OMIM:618188
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Thin ribs, Decreased skull ossification, Asplenia, Hypoplas... OMIM:602361
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Albers-Schönberg Osteopetrosis
Optic atrophy, Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morpholog... ORPHA:53
Eng-Strom Syndrome
Arthritis, Scoliosis, Pectus excavatum, Camptodactyly of finger, Brachydactyly ORPHA:1937
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Premature epimetaphyseal fusion, Reduced bone mineral density, Symmetric polyarthriti... ORPHA:85435
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp... OMIM:614524
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Pathologic ... OMIM:601559
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Pectus excavatum, Arachnodactyly, Joint hypermobility, ... OMIM:182212
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Increased arm span, Abnormal bone ossification, Thin metacarpal cortices, Lumbar hemi... ORPHA:2463
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Lattice retinal degeneration, Rhegmatogenous retinal detach... ORPHA:485
Lethal Recessive Chondrodysplasia
Narrow chest, Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowt... ORPHA:1423
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Flared metaphysis, Short greater sciatic notch, Wide-cupped costocho... OMIM:187601
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of the phalanges of... OMIM:615630
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Poland Syndrome
Aplasia of the pectoralis major muscle, Reduced bone mineral density, Asymmetry of the thorax, Ab... ORPHA:2911
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... ORPHA:166002
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... ORPHA:66637
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Premature Aging Syndrome, Penttinen Type
Cervical ribs, Slender long bone, Palmoplantar hyperkeratosis, Recurrent fractures, Scoliosis, Ti... OMIM:601812
Van Den Ende-Gupta Syndrome
Dislocated radial head, Femoral bowing, Short ribs, Pectus excavatum, Arachnodactyly, Slender met... OMIM:600920
Achondrogenesis, Type Ii
Short tubular bones of the hand, Barrel-shaped chest, Hypoplastic iliac wing, Short long bone, Sh... OMIM:200610
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Narrow chest, Flared metaphysis, Wide ant... ORPHA:2347
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Sclerotic vertebral endplates, Platyspondyly, Enlarged metacarpophalangeal joints... OMIM:208230
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Joint hypermobility, Coxa valga, Genu ... OMIM:224690
Three M Syndrome 1
Increased vertebral height, Clinodactyly of the 5th finger, Spina bifida occulta, Slender long bo... OMIM:273750
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Metaphyseal cupping ... ORPHA:163966
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossificati... OMIM:600081
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc... ORPHA:968
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomal... OMIM:173800
Radial Hemimelia
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... ORPHA:93321
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide... ORPHA:440354
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, F... OMIM:226980
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long ... OMIM:156400
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Platyspondyly, Narrow chest, Flared metaphysis, Metaphyseal cupping, Increased bone m... ORPHA:50945
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Trac... OMIM:114290
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... ORPHA:321
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Slender long bones with narrow d... OMIM:608154
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Splenomegaly... ORPHA:2204
Grant Syndrome
Abnormal cortical bone morphology, Narrow chest, Joint dislocation, Wormian bones, Decreased skul... ORPHA:2097
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Short long bone, Hyperlordosis, Thoracic hypoplasia, Metaphyse... ORPHA:93352
Garg-Mishra Progeroid Syndrome
Narrow chest, Slender long bone, Thin ribs, Persistent open anterior fontanelle, Micrognathia, Ov... OMIM:620601
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ... OMIM:187760
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, Abnormal cervical cu... OMIM:312150
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Butterfly vertebrae, Abnormal clavicle morpholo... ORPHA:958
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... OMIM:208500
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Thoracic hypoplasia, Lumb... OMIM:100800
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Talipes equinovarus, Short metacarpal, Hypoplasia of the femoral ... OMIM:226900
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Decreased skull ossification, Thrombocy... ORPHA:3319
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Thanatophoric Dysplasia, Type I
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Thickened rib... OMIM:122860
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones... OMIM:105835
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Thin ribs, Long fingers, Micrognathia, Limb u... OMIM:608149
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Scoliosis, Short ribs, Pectus excavatum, Missing ribs, Pseudoarthrosis OMIM:618155
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Cranio-Osteoarthropathy
Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Eczematoid dermatitis, D... ORPHA:1525
Ollier Disease
Abnormal metaphysis morphology, Anemia, Platyspondyly, Micromelia, Joint stiffness, Abnormal cart... ORPHA:296
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem... OMIM:256050
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal fundus morphology, Osteoporosis, Bilateral talipes equinovarus, Supernumerary ribs, Fing... ORPHA:2958
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of ... ORPHA:1350
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly, Microcornea, Corneal opacity, Median cleft palate ORPHA:2432
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Broad femoral neck, Abnormality of the hand, Hump-shaped mound of bone in central and posterior p... ORPHA:99642
Osteogenesis Imperfecta
Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Abnormal f... ORPHA:666
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Three M Syndrome 2
Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Pr... OMIM:612921
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short thorax, Short... ORPHA:3003
Multiple Pterygium Syndrome, Lethal Type
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, Abnormal cervical cu... OMIM:253290
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Thin r... OMIM:614008
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr... OMIM:614078
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow chest, Clubbing of fingers, Hypoplastic pubic bone, Pterygium, Short long bone, Limitation... ORPHA:1865
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Platyspondyly, Narrow chest, Metaphyseal cupping, Short thorax, Bowin... ORPHA:85166
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Congenital knee dislocation, Scoliosis, Joint s... OMIM:130060
Congenital Toxoplasmosis
Microphthalmia, Jaundice, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic tra... ORPHA:858
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, A... OMIM:266920
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Genu valgum, Small epiphyses, Short thorax, Scoliosis, Short long bone, Hyperlord... OMIM:618363
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Elbow flexion contracture, Short ribs, Cupped ribs, In... ORPHA:1145
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Pl... ORPHA:85198
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... ORPHA:1427
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, ... OMIM:307800
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Small epiphys... OMIM:614135
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Short ribs, Abnormal optic disc morphology, Abnormal 5th metacarpal mo... ORPHA:397715
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Clinodactyly of the 5th finger, Knee flexion contracture, 2-3 toe syndactyly, Elbow f... OMIM:616809
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Wild Type Abeta2M Amyloidosis
Abnormal shoulder morphology, Abnormality of the thenar eminence, Abnormal intervertebral disk mo... ORPHA:85446
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the costochondral junction, Del... OMIM:241530
Farber Lipogranulomatosis
Lipogranulomatosis, Osteolytic defects of the phalanges of the hand, Limitation of knee mobility,... OMIM:228000
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, Kyphosis, Camptodactyly, Micrognathia, Short neck, Arthrogr... OMIM:618393
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Multiple Epiphyseal Dysplasia Type 4
Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol... ORPHA:93307
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Corneal opacity, Thrombocytopenia, Abnormality of the liver, Ventriculomegaly ORPHA:1980
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Abnormal vertebral morphology, Anemia, Acne, Hyperostosis, Arthri... ORPHA:324964
Cooper-Jabs Syndrome
Reduced bone mineral density, Proximal placement of thumb, Abnormal hip bone morphology, Scoliosi... ORPHA:1488
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Pallister-Hall-Like Syndrome
Short ribs, Postaxial hand polydactyly, Micromelia, Glioma, Micrognathia, Toe syndactyly, Postaxi... OMIM:241800
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Kyphoscoliosis, Platyspondyly, Joint dislocation, Progressive congenital scoliosis, R... OMIM:225400
Severe Congenital Nemaline Myopathy
Thin ribs, Multiple prenatal fractures, Flexion contracture, Adducted thumb, Arthrogryposis multi... ORPHA:171430
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Pectus excavatum, Limb undergrowth, Thoracic hypoplasia, Enlarged joints... ORPHA:156728
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Angioid streaks of the fundus, Barrel-shaped chest, Increased bone mineral density, B... OMIM:239000
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H... ORPHA:2839
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Acrocapitofemoral Dysplasia
Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus excavatum, Flared ... ORPHA:63446
Congenital Rubella Syndrome
Atrial septal defect, Microphthalmia, Jaundice, Anemia, Hepatomegaly, Sensorineural hearing impai... ORPHA:290
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Abnormality of the hand, Slender long bone, Tra... OMIM:234100
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis, Brachydactyly ORPHA:2762
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx OMIM:618724
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal enchondral ossification, Micromelia, Abnormal rib morphology... ORPHA:93298
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Aplasia/hypoplasia inv... ORPHA:75508
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Narrow chest, Short long bone, Flat acetabular roof, Bowing of the long bones, Short... OMIM:614091
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Short thorax, Micromelia, Osteoarthritis, Abnormal epiphysis morphology ORPHA:93283
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Ascites, Osteoporosis, Hearing impairment, Splenomegaly, Flexion c... ORPHA:87876
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossificati... OMIM:264700
Hypophosphatasia
Abnormal metaphysis morphology, Anemia, Narrow chest, Bowing of the long bones, Abnormal rib morp... ORPHA:436
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Kyphoscoliosis, Palmar pits, Vertebral wedging, Abnormal stern... OMIM:109400
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Retinal dy... ORPHA:1190
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Kyphoscoliosis, Butterfly vertebrae, Narrow che... OMIM:200980
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Retinal dystrophy, Narrow chest, Scoliosis, Short meta... OMIM:180870
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Abnormal form... ORPHA:1486
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,... OMIM:611263
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hy... ORPHA:2169
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... ORPHA:1159
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Deep palmar crease, San... OMIM:619127
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Retinal atrophy, Femoral bowing, Tibial bowing, Short long bone, Sh... OMIM:608940
Rhizomelic Chondrodysplasia Punctata
Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis... ORPHA:177
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Tapered toe, Slender long bone, Shoulder flexion contracture, Scoliosis, Elbow f... OMIM:620369
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Scoliosis, Wormian bones, Pectus excavatum, Kyphosis, Decreased calvarial ossif... OMIM:259440
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ... ORPHA:90650
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Abnormal heart valve morphology, Abnormality of... ORPHA:93476
Achondrogenesis Type 1A
Narrow chest, Short thorax, Short foot, Abnormal enchondral ossification, Micromelia, Short palm,... ORPHA:93299
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Retinal atrophy, Short long bone, Short metacarpal, Cupped ribs, Me... ORPHA:85167
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa... OMIM:611717
Smith-Mccort Dysplasia 1
Short metacarpal, Kyphosis, Iliac crest serration, Metaphyseal irregularity, Genu varum, Irregula... OMIM:607326
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Lattice retinal d... OMIM:619248
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Ectopic ossification, Brachydactyly, Short distal phalanx... ORPHA:79445
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Clinodactyly of the 5th finger, Spondylolisthesis, Spina bifida occulta, Sandal gap, ... OMIM:617877
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Abn... ORPHA:93160
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Bulging of the costochondral junction, ... OMIM:277440
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short ribs, Limited... OMIM:277590
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Metacarpal osteolysis, Wrist swelling, Ankle swelling, Carpal osteolysis, Ulnar devia... OMIM:166300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... ORPHA:96334
Roifman-Chitayat Syndrome
Optic atrophy, Osteopenia, Short metatarsal, Arthritis, Short metacarpal, Pneumonia, Short neck, ... OMIM:613328
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Platyspondyly, Vertebral compression fracture, Narrow chest, Angulated hu... OMIM:616229
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Scoliosis, Short long bone, Knee dislocation, Lumbar scoliosis, Joint hypermobil... OMIM:620269
Acrocephalopolydactyly
Genu recurvatum, Short long bone, Hepatosplenomegaly, Limb undergrowth, Brachydactyly, Thoracic h... ORPHA:221054
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Mesomelia, Brachydactyly, Long thorax ORPHA:1277
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Irregular capital femoral epiphysis, Wide proximal femoral metaph... OMIM:142669
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Plat... ORPHA:168555
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndactyly, Absent ... OMIM:308050
Seckel Syndrome 4
Steep acetabular roof, 11 pairs of ribs OMIM:613676
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormal to... OMIM:216100
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh... ORPHA:457395
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Retinal dystrophy, Reti... OMIM:617052
Bardet-Biedl Syndrome 16
Polydactyly, Retinal degeneration, Recurrent otitis media, Rod-cone dystrophy OMIM:615993
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis, Coxa valga, Hip dysplasia OMIM:615612
Diamond-Blackfan Anemia 7
Osteopenia, Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Vesicou... OMIM:612562
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f... ORPHA:163649
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Camptodactyly... OMIM:300244
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Pectus excavatum, Short humerus, Short distal phalanx of ... OMIM:218330
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... OMIM:604864
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Abnormality of the hand, Tarsal synostosis, Abnormal diaphysis mo... ORPHA:1657
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Joint hypermobility, Cervical subluxation, Short finger, Rh... OMIM:607095
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Narrow chest, Hypoplastic iliac wing, Pectus carinatum, Short l... OMIM:225500
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... OMIM:620367
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnormally ossified vertebra... ORPHA:3035
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Enlargement ... ORPHA:289157
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Flattened metacarpal heads, Flattened metatarsal heads, Synovial lining hyperplasia, Arthritis, A... OMIM:208250
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones ... ORPHA:371428
Diaphanospondylodysostosis
Absent in utero rib ossification, Hammertoe, Lumbosacral meningocele, Tracheomalacia, Bell-shaped... OMIM:608022
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Reduced bone mineral density, Platyspondyly, Joint d... ORPHA:582
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Bilateral cleft palate, Sensorineur... ORPHA:1473
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Stickler Syndrome, Type I
Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Platyspondyly, Spondylolisthe... OMIM:108300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Bell-shaped t... OMIM:616300
Achondroplasia
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Thor... ORPHA:15
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Retinal detachment, Short ... OMIM:607143
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing... OMIM:249710
Alpha-Mannosidosis
Chronic otitis media, Craniofacial hyperostosis, Arthritis, Scoliosis, Bowing of the long bones, ... ORPHA:61
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Talipes equinovarus, Slender long bone, Absent sternal ossification, Aplasia... OMIM:613803
Cleidocranial Dysplasia 2
Osteopenia, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification o... OMIM:620099
Nail-Patella Syndrome
Abnormal femur morphology, Reduced bone mineral density, Spondylolisthesis, Spondylolysis, Disloc... ORPHA:2614
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Ventricular septa... OMIM:617021
Senior-Loken Syndrome 9
Polydactyly, Osteopenia, Retinal dystrophy, Macular degeneration, Hypoplasia of the femoral head,... OMIM:616629
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... OMIM:606895
Diamond-Blackfan Anemia 6
Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Ventricular hypertrophy, Pe... OMIM:612561
Mucopolysaccharidosis, Type Iva
Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Joint hypermobili... OMIM:253000
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Arthralgia of the hip, Intervertebral disk degeneration, Abnormality of the epiphyse... ORPHA:93311
Desbuquois Dysplasia 2
Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectus excavatum, Knee... OMIM:615777
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Absence of intrinsic factor, Megaloblast... OMIM:261000
Mucolipidosis Type Iii
Reduced bone mineral density, Abnormal aortic valve morphology, Craniofacial hyperostosis, Abnorm... ORPHA:577
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... OMIM:610797
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Beta-Thalassemia Intermedia
Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat... ORPHA:231222
Achondrogenesis
Narrow chest, Short thorax, Abnormality of bone mineral density, Abnormal enchondral ossification... ORPHA:932
Noonan Syndrome 12
Proximal placement of thumb, 11 pairs of ribs, Pectus excavatum, Atopic dermatitis, Spinal canal ... OMIM:618624
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... ORPHA:175
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Flexion contracture, Retinal degener... OMIM:256730
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy ORPHA:52416
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility, Short middle phalanx of the 5th finger, Short middle pha... ORPHA:63442
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in... ORPHA:2485
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N... OMIM:617102
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly, Retinal degeneration, Rod-cone dystrophy OMIM:615982
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Ver... ORPHA:2631
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Kyphoscoliosis, Delayed ossification of carpal bones, Biconcave vertebral bodies, Mesomelia, Meta... OMIM:271510
Nail-Patella Syndrome
Pectus excavatum, Patellar dislocation, Disproportionate prominence of the femoral medial condyle... OMIM:161200
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Anterior... OMIM:255800
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Orofaciodigital Syndrome Iv
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... OMIM:258860
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Anemia, Acute myeloid leukemia, Metaphyseal sclerosis, Pancytopenia... OMIM:260400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carin... OMIM:245600
Sickle Cell Anemia
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:271700
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Long clavicles, Osteolytic defects of the phalanges of the hand, Arthritis, Arthropat... OMIM:259100
Focal Dermal Hypoplasia
Finger syndactyly, Short clavicles, Scoliosis, Short ribs, Split hand, Hypoplastic pelvis, Split ... ORPHA:2092
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint stiffness, Abnormal metacarpophalangeal joint morphology, Abnormality of the hand, Synoviti... ORPHA:85408
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Kyphoscoliosis, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dis... OMIM:612350
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Per... OMIM:618849
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Beaking of vertebral bodies, Sea-blue histiocytosis, Platyspondyly, Scoliosis, Joi... OMIM:230600
Familial Avascular Necrosis Of Femoral Head
Flattened femoral head, Hip osteoarthritis, Limited hip movement, Abnormal femoral neck/head morp... ORPHA:86820
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia... OMIM:608971
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Kyphoscoliosis, Platyspondyly, Dislocated radial head, Cervical ins... OMIM:617425
Coxoauricular Syndrome
Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ... ORPHA:1508
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Astigmatism, Increased mean corpuscular volume, Optic nerve hypoplasia, Hig... ORPHA:261250
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Pectus carinatum, Pectus excavatum, Micrognathia, Osteoarthritis ORPHA:166100
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Amelia, Foot oligodactyly OMIM:601357
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Thin ribs, Flexion contracture OMIM:614833
Kniest Dysplasia
Tibial bowing, Pectus excavatum, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped f... OMIM:156550
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Hydrocephalus, Vacuolated lymphocytes, High palate, Ascites, Nephrotic ... OMIM:269920
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short long bone, Femoral bowing, Short... OMIM:615503
Campomelic Dysplasia
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Narrow ... ORPHA:140
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Kyphoscoliosis, Barrel-shaped chest, Arthritis, Pectus carinatum, Hypoplasia of the odontoid proc... OMIM:184100
Majeed Syndrome
Acne, Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Synovitis, Pus... ORPHA:77297
Thoracic Dysostosis, Isolated
Short ribs, Bell-shaped thorax, Pectus excavatum OMIM:187750
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Skin rash, Leukocytosis, Splenomegaly ORPHA:37748
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Congenital Atransferrinemia
Arthritis, Anemia ORPHA:1195
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o... OMIM:300554
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Microcephaly-Micromelia Syndrome
Narrow chest, Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Short neck,... OMIM:251230
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis dissecans, Hip osteoarthritis, Broad hallux, Short thumb, Brachydactyly, Lumbar h... OMIM:165800
Lethal Congenital Contracture Syndrome 5
Thin ribs, Flexion contracture, Retinal hemorrhage, Congenital contracture OMIM:615368
Pelviscapular Dysplasia
Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis, Mesomelic leg shortening, ... ORPHA:93333
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... ORPHA:811
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Osteoporosis, Splenomegaly, Abnor... ORPHA:100024
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Platyspondyly, Disproportionate shortening of the tibia, Retinal dystrophy... OMIM:263520
ERI1-related disease
Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Slender metacarpals, Sy... OMIM:608739
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog... ORPHA:2769
Enthesitis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Limited mobility of proximal interphalangeal joint, Abnormal metacarpophalangea... ORPHA:85438
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Increased susceptibility to fractures, Osteopenia, Kyphoscoliosis, Platyspondyly, Talipes equinov... OMIM:615349
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Hip osteoarthritis, Barrel-shaped chest, Hypoplastic iliac wing, Scoliosis, ... OMIM:313400
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal ri... ORPHA:2759
Developmental And Epileptic Encephalopathy 36
Optic atrophy, Hepatomegaly, Hypsarrhythmia, Hydrocephalus, Low-set ears, Flexion contracture OMIM:300884
Pachydermoperiostosis
Palmoplantar keratoderma, Anemia, Abnormal cortical bone morphology, Acne, Arthritis, Scoliosis, ... ORPHA:2796
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol... ORPHA:1422
Isolated Agammaglobulinemia
Clinodactyly of the 5th toe, Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, S... ORPHA:229717
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Epiphyseal stippling, Glossoptosis, Elevated circulating aspartate aminot... OMIM:614876
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Dandy-Walker malformation, Hydrocephalus, Orbital craniosynostosis ORPHA:1538
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Micromelia, Decreased calvarial ossification, Joint hypermobility, Recur... ORPHA:2772
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Barrel-shaped chest, Pectu... OMIM:615222
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Short distal phalanx of finger, Increased density of long bones, Broad ribs, Long ... OMIM:269150
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the dis... OMIM:190350
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... ORPHA:166016
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... OMIM:176240
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Scoliosis, Wo... OMIM:269300
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Metacarpal osteolysis, Wrist swelling, Abnormality of the wrist, Carpal osteolysis, Slender long ... ORPHA:2774
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Irregular epiphyses, Abnormal femur morphology, Genu valgum, Abnormal femoral ... ORPHA:1822
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis, Short thumb, Brachydactyly ORPHA:435804
Thoracomelic Dysplasia
Short ribs, Bell-shaped thorax OMIM:273740
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Cleidocranial Dysplasia
Chronic otitis media, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abn... ORPHA:1452
Hurler Syndrome
Diaphyseal undertubulation, Cranial hyperostosis, Recurrent otitis media, Short clavicles, Calvar... OMIM:607014
49,Xyyyy Syndrome
Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, Scoliosis, Bridged... ORPHA:99330
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Hydrocephalus, Sensorineural hearing impairment, Corneal opacity, Mu... ORPHA:585
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... OMIM:615631
Cdags Syndrome
Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, Short ribs, Kyphosi... OMIM:603116
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Micrognathia, Brachydactyly, ... ORPHA:2145
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Short-Rib Thoracic Dysplasia 12
Short finger, Narrow chest, Short thorax, Short long bone, Short ribs, Horizontal ribs, Short pal... OMIM:269860
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Sensorineural... OMIM:256550
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Congenital Sialidosis Type 2
Optic atrophy, Hepatomegaly, Yellow/white lesions of the retina, Hydrocephalus, Corneal opacity, ... ORPHA:93400
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Hammertoe, Cervical C2/C3 vertebral fusion, Shoulder... OMIM:618000
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Corneal opacity, Low-set, posteriorly rotated ears, Abnormal cardia... ORPHA:2370
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... OMIM:259600
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Hip osteoarthritis, Flattened metatarsal heads, Osteoarthritis, Platy... OMIM:271600
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, S... OMIM:616723
Farber Disease
Short finger, Abnormality of the hand, Abnormality of the wrist, Anemia, Abnormality of the elbow... ORPHA:333
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Larsen Syndrome
Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Short metacarpal, Pectus e... OMIM:150250
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... OMIM:607850
Galactosialidosis
Hearing impairment, Corneal opacity, Cherry red spot of the macula ORPHA:351
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Scoliosis, Wormian bones, Pectus excavatu... OMIM:619131
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Bilateral single transverse palmar creases, Multiple carpal ossification centers,... OMIM:143095
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Larsen Syndrome
Broad distal phalanx of finger, Craniosynostosis, Large joint dislocations, Finger syndactyly, Sc... ORPHA:503
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e... ORPHA:950
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration, Distal upper limb amyotrophy, Distal upper limb muscle weakness OMIM:619764
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... ORPHA:392
Shprintzen-Goldberg Syndrome
Abnormal metaphysis morphology, Osteopenia, Genu valgum, Narrow chest, Abnormal form of the verte... ORPHA:2462
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Sensorineural hearing impairment, Corneal... ORPHA:90654
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Kyphosis, Joint stiffness, Constricted iliac wing, Joint hypermobility, Coxa valga... OMIM:253010
Osteopetrosis, Autosomal Recessive 7
Optic atrophy, Femur fracture, Osteopetrosis, Anemia, Optic nerve compression, Abnormal trabecula... OMIM:612301
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy OMIM:603649
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata... OMIM:190351
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Vacuolated lymphocytes, Retinal degeneration, Rod-cone dystr... OMIM:204200
Odontochondrodysplasia
Abnormal metaphysis morphology, Square pelvis bone, Platyspondyly, Narrow chest, Scoliosis, Bowin... ORPHA:166272
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
1Q21.1 Microduplication Syndrome
Hypospadias, Gastroesophageal reflux, Hydrocephalus, Tetralogy of Fallot, Cataract, Arthrogryposi... ORPHA:250994
Distal Deletion 17Q
Optic atrophy, Abnormal thumb morphology, Bilateral single transverse palmar creases, Abnormal hi... ORPHA:1597
Hallermann-Streiff Syndrome
Reduced bone mineral density, Clinodactyly of the 5th finger, Tracheomalacia, Recurrent fractures... ORPHA:2108
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis, Hepatomegaly, Anemia, Facial palsy, Unilateral microphthalmos, Thro... OMIM:615085
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Septo-optic dysp... ORPHA:3301
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Alpha-Mannosidosis, Adult Form
Osteopenia, Mixed hearing impairment, Pancytopenia, Corneal opacity, Cataract, Hepatosplenomegaly... ORPHA:309288
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Fused cervical vertebrae, B lymphocytopenia, Thin ribs, Single transverse palmar ... ORPHA:83617
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular edema, Macular exudate, Reduced bone mineral dens... ORPHA:891
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wrist, Abnormal metac... ORPHA:2319
Mulibrey Nanism
Hepatomegaly, Astigmatism, Thickened cortex of long bones, Corneal dystrophy, Ascites, Pericardia... OMIM:253250
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Microphthalmia, Abnormal vitreous humor morphology, Retinal detachment, Exudative ret... ORPHA:2788
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Castleman Disease
Intestinal obstruction, Abnormality of the gastrointestinal tract, Jaundice, Mediastinal lymphade... ORPHA:160
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... OMIM:616943
Dominant Beta-Thalassemia
Genu valgum, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231226
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Retinal detachment, Hydrocephalus, Dandy-Walker malformation, Corneal opacity, Le... OMIM:613153
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity ORPHA:1490
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... ORPHA:56305
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Nephronophthisis 15
Polydactyly, Retinal degeneration OMIM:614845
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short metacarpal, Micrognathia, Metaphyseal dysplasia, Brachydactyly, Metaphyseal chondrodysplasi... OMIM:250410
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short metacarpal, Short phalanx of finger, Spinal canal stenosis, Brachydactyly... OMIM:614613
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Lymphadenopathy, Gastroesophageal reflux ORPHA:99976
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Short metacarpal, Abnormal rib ... ORPHA:3404
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... OMIM:614851
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Ventriculomegaly, Vent... OMIM:613730
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Zika Virus Disease
Ankle swelling, Wrist swelling, Optic disc hypoplasia, Myelitis, Arthritis, Chorioretinal atrophy... ORPHA:448237
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Elbow dislocat... OMIM:164900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Block vertebrae, Rib fusion, Short... OMIM:271520
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Low-set, posteriorly rotated ears, Hyp... ORPHA:3376
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... ORPHA:1278
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo... OMIM:215150
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Scoliosis, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, ... OMIM:616266
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Scoliosis, Broa... OMIM:620073
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Osteomalacia, Rachitic rosary, Pathologic... ORPHA:157215
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Slender long bone, Thin ribs, Ulnar deviation of the hand or of fingers of th... OMIM:208150
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Cholangitis, Narrow chest, Metopic synostosis, Short ribs, Postaxial han... OMIM:613610
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Zellweger Syndrome
Optic atrophy, Abnormal chorioretinal morphology, Jaundice, Hepatomegaly, Hypospadias, Epiphyseal... ORPHA:912
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Acromesomelic Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Joint hyp... OMIM:602875
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Scoliosis, Hyperlordosis, Wormian... ORPHA:1798
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Platyspondyly, Retinal detachment, Abnormal vertebral epiphys... ORPHA:90653
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ... ORPHA:444463
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Isothenuria, Distal renal tubular acidosis, Reticulocytosis, Nephrocalcinosis, Hepatospl... OMIM:611590
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o... ORPHA:1860
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Pterygium, Elbow dislocati... ORPHA:93329
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Wrist swelling, Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Polyarticular arthro... ORPHA:2848
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Short metacarpal, Retinal degeneration, Micrognathia, Brachydactyly, Metaphyseal chondrodysplasia... ORPHA:166035
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating hepatic transaminase concentration, Optic nerve hypoplasia, Corneal opacity,... OMIM:301056
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Alg6-Cdg
Scoliosis, Shortening of all distal phalanges of the fingers, Brachydactyly, Retinal degeneration... ORPHA:79320
Mesomelia-Synostoses Syndrome
Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa... ORPHA:2496
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Peripheral Dysostosis
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology ORPHA:100025
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Hydrocephalu... OMIM:610333
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Visceromegaly, Corneal opacity, Low-set ears, Protruding tongue, Hea... ORPHA:93399
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Lymphopenia, Osteoporosis,... OMIM:127550
Paget Disease Of Bone 2, Early-Onset
Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones... OMIM:602080
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal rib morphology, Clu... ORPHA:1318
Bardet-Biedl Syndrome 9
Polydactyly, Bone spicule pigmentation of the retina, Postaxial hand polydactyly, Postaxial polyd... OMIM:615986
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pa... OMIM:616171
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... ORPHA:2522
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Fgfr2-Related Bent Bone Dysplasia
Congenital stationary night blindness, Osteopenia, Metopic depression, Bell-shaped thorax, Short ... ORPHA:313855
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Pancytopenia, Sterile abscess, Arthritis, Elbow flexion contracture, Sterile arthritis, Cys... OMIM:604416
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph... ORPHA:508533
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Camptodactyly, Anisocytosis, Micrognathia, Flexion contracture OMIM:604273
Seckel Syndrome 1
Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalan... OMIM:210600
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Dent Disease 1
Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ... OMIM:300009
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Broad femoral neck, Butterfly vertebrae, Rhizomelia, Camptodacty... OMIM:611209
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Limited elbow extension, Butterfly vertebrae, Genu valgum, Monkey wrench femoral neck, Clinodacty... OMIM:618870
Yunis-Varon Syndrome
Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Decrease... ORPHA:3472
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Bardet-Biedl Syndrome 17
Polydactyly, Bone spicule pigmentation of the retina, Mesoaxial polydactyly, Postaxial hand polyd... OMIM:615994
Qazi-Markouizos Syndrome
Delayed ossification of carpal bones, Tapered finger, Pectus excavatum ORPHA:3010
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, R... OMIM:259710
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Corneal opacity, Abnormal optic nerve morphology, Bifid uvul... ORPHA:899
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Opti... OMIM:611040
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Single transverse palmar crease, Thin ribs, Prom... OMIM:229850
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Increased CSF protein concentration, Abnormal anterior eye segment morphology, Ex... ORPHA:209956
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Tooth abscess, Osteomalacia, Bowing of the legs ORPHA:89937
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Acromelia, Per... ORPHA:763
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormal clavicle morphology... ORPHA:249
Congenital Hydrocephalus
Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Poster... ORPHA:2185
Tenosynovial Giant Cell Tumor
Localized osteoporosis, Abnormal shoulder morphology, Abnormality of the wrist, Chondrocalcinosis... ORPHA:66627
Arthrogryposis Multiplex Congenita 5
Rocker bottom foot, Kyphoscoliosis, Normocytic anemia, Limitation of knee mobility, Hammertoe, Ta... OMIM:618947
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tran... ORPHA:79301
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l... ORPHA:289176
Felty Syndrome
Chronic otitis media, Anemia, Arthritis, Abnormal lymphocyte morphology, Limitation of joint mobi... ORPHA:47612
Diamond-Blackfan Anemia
Developmental glaucoma, Normochromic anemia, Microtia, Macrocytic dyserythropoietic anemia, Abnor... ORPHA:124
Osteoglophonic Dysplasia
Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Craniosynostosis, Broad palm, ... OMIM:166250
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy, Hydrocephalus, Cardiomyopathy, Facial palsy, Developmental cat... OMIM:613155
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr... OMIM:102370
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia, Enlarged sylvian cistern, Microcornea, Low-set ears, Osteoporosis,... OMIM:600118
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Short finger, Irregular epiphyses, Rhizomelia, Platyspondyly, Barrel-shaped chest, Broad thumb, M... OMIM:612813
Ruvalcaba Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Narrow chest, Abnormal vertebral epi... ORPHA:3121
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... ORPHA:1826
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Mucolipidosis Iv
Optic atrophy, Abnormal abdomen morphology, Corneal opacity, Achlorhydria, Opacification of the c... OMIM:252650
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615981
Sapho Syndrome
Acne, Abnormality of the vertebral column, Hyperostosis, Arthritis, Skin rash, Abnormal sacroilia... ORPHA:793
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Joint dislocation, Osteomalacia, Scoliosis, Esophagitis, Osteoporosis, Coxa ... ORPHA:1901
C Syndrome
Radial deviation of finger, Dislocated radial head, Scoliosis, Postaxial hand polydactyly, Short ... OMIM:211750
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Cofs Syndrome
Optic atrophy, Microphthalmia, Sensorineural hearing impairment, Joint stiffness, Camptodactyly o... ORPHA:1466
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Sensorineural heari... ORPHA:581
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Delayed cranial suture closure, Micromelia, Met... ORPHA:2249
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Holzgreve Syndrome
Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti... ORPHA:2167
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Flexion contra... OMIM:618815
Mosaic Trisomy 14
Bilateral single transverse palmar creases, Narrow chest, Abnormal rib morphology, Camptodactyly ... ORPHA:1703
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro... ORPHA:2519
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... OMIM:119800
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Ethanolaminosis
Cardiomegaly OMIM:227150
Tyrosinemia Type 1
Hepatomegaly, Rickets of the lower limbs, Generalized aminoaciduria, Hepatocellular carcinoma, Ac... ORPHA:882
Gómez-López-Hernández Syndrome
Low-set ears, Corneal opacity, Hydrocephalus ORPHA:1532
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Recurrent otitis media, Hyperextensibility at elbow, Periarticular soft-tiss... OMIM:601492
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... ORPHA:2502
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Pectus excavatum, Overlapping toe, Scoliosis, Ulnar deviation of the hand or of f... OMIM:114300
Spondyloenchondrodysplasia With Immune Dysregulation
Kyphoscoliosis, T lymphocytopenia, Recurrent sinusitis, Lymphopenia, Metaphyseal irregularity, Ne... OMIM:607944
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pan... OMIM:259700
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Lowry-Maclean Syndrome
Osteopenia, High, narrow palate, Developmental glaucoma, Atrioventricular canal defect, Hypospadi... ORPHA:2409
Slipped Femoral Capital Epiphyses
Hip osteoarthritis, Proximal femoral epiphysiolysis OMIM:182260
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion... OMIM:610682
Gaucher Disease
Corneal opacity, Retinopathy, Joint stiffness, Leukopenia, Splenomegaly, Dysphagia, Pathologic fr... ORPHA:355
Sialidosis Type 1
Decreased nerve conduction velocity, Sensorineural hearing impairment, Corneal opacity, Retinopat... ORPHA:812
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Flexion contracture, Decreased mean corpuscu... OMIM:609628
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly of the 5th finger,... OMIM:618162
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis OMIM:216950
Hajdu-Cheney Syndrome
Osteopenia, Kyphoscoliosis, Genu valgum, Fibular bowing, Osteolytic defects of the phalanges of t... OMIM:102500
Pseudopseudohypoparathyroidism
Short metatarsal, Short metacarpal, Osteoporosis, Brachydactyly, Short neck OMIM:612463
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Cantú Syndrome
Abnormal metaphysis morphology, Platyspondyly, Narrow chest, Short hallux, Finger syndactyly, Cub... ORPHA:1517
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dysplasia, H... ORPHA:324416
Restrictive Dermopathy
Osteopenia, Thin clavicles, Thin ribs, Thoracic kyphoscoliosis, Decreased skull ossification, Art... ORPHA:1662
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Ankylosing Vertebral Hyperostosis With Tylosis
Palmoplantar keratoderma, Osteoarthritis, Abnormal pelvis bone morphology, Abnormality of the ver... ORPHA:2206
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Wormian bones, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth... OMIM:601356
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Distal symphalangism of hands, Cubit... OMIM:186570
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Activated Pi3K-Delta Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ... ORPHA:397596
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Pectus excavatum, Abnormal optic disc morphology, Broad thumb, Short 5th ... ORPHA:508498
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Pectus cari... OMIM:183900
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Microphthalmia With Limb Anomalies
Sandal gap, Short long bone, Tibial bowing, Broad thumb, Hip dislocation, Fibular hypoplasia, Tar... ORPHA:1106
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Platyspondyly, Enlarged epiphyses, Premature osteoarthritis OMIM:184840
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia OMIM:616335
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Thin ribs ORPHA:169189
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Narrow chest, Short ribs, Micromelia, Postaxial polydactyly, Retinal colobo... OMIM:616546
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Pneumonia, Platyspondyly, Juvenile rheumatoid arthritis, Pancytopeni... ORPHA:1855
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Postaxial polydactyly, Attenuat... OMIM:614500
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phalanx of finger, Butterfly ve... ORPHA:79345
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Catar... OMIM:251270
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Pseudo-Torch Syndrome 2
Thin ribs, Thrombocytopenia OMIM:617397
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Tibial bowing, Forearm undergrowth, Micrognathia, Low... ORPHA:314795
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Flexion contracture of toe, Microcornea, Finger joint contracture, Osteoporosis, ... ORPHA:48431
Braddock Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Missing ribs, Micrognathia, Preaxial hand polydactyly... ORPHA:52047
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Abnormal rib morphology, Brachydactyly, Neutropenia ORPHA:2643
Acrofacial Dysostosis 1, Nager Type
Radial deviation of finger, Absent thumb, Absent radius, Overlapping toe, Clinodactyly, Hip dislo... OMIM:154400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Protruding ear, Astigmatism, Microphthalmia, Myopic astigmatism, Retinal detachmen... OMIM:152950
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Multiple Sulfatase Deficiency
Hepatomegaly, Hydrocephalus, Corneal opacity, Increased CSF protein concentration, Mucopolysaccha... OMIM:272200
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Narrow ... ORPHA:90652
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Melena, Elevated circulating hepatic transaminase concentration, Increased mean corpuscul... ORPHA:98870
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Thanatophoric Dysplasia
Abnormal metaphysis morphology, Platyspondyly, Abnormal ilium morphology, Narrow chest, Short tho... ORPHA:2655
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy OMIM:180020
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Asymmetry of the t... OMIM:250250
Senior-Loken Syndrome
Nephronophthisis, Retinal dystrophy, Abnormality of bone mineral density, Abnormality of retinal ... ORPHA:3156
Stromme Syndrome
Microphthalmia, Iris coloboma, Peters anomaly, Accessory spleen, Hydrocephalus, Optic nerve hypop... OMIM:243605
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Postaxial hand polydactyl... OMIM:617406
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Irregular epiphyses, Geographic atrophy, Scoliosis, Biconcave vertebral bodies,... OMIM:619260
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Tracheobronchomalacia, Scoliosis, Short long bone, Joint ... OMIM:619184
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Reduced bone mineral density, Joint stiffness, Cleft palate, Leukopenia, Splenomega... OMIM:620210
Slc35A2-Cdg
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Metatarsus adductus, Camptod... ORPHA:356961
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... ORPHA:64755
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p... ORPHA:3082
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenome... OMIM:612840
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Encephalocele, Hydrocephalus, Ascites, Pyloric stenosis,... ORPHA:381
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Lo... OMIM:613101
Mosaic Trisomy 9
Microphthalmia, Abnormal liver lobulation, Hypoplasia of penis, Corneal opacity, Intestinal malro... ORPHA:99776
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Sclerosteosis 1
Optic atrophy, Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Papi... OMIM:269500
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hematuria, Hearing impairment, Cleft palate, Chorioretinal coloboma, Cataract, Ir... OMIM:120433
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Low-set ears, Cleft palate, Ventriculomegaly, Arthrogryposis multiplex congenita OMIM:616570
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cohen Syndrome
Optic atrophy, Bone spicule pigmentation of the retina, Neutropenia, Short metatarsal, Genu valgu... OMIM:216550
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels... OMIM:619531
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Gm1 Gangliosidosis
Optic atrophy, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Platyspondyly, Abno... ORPHA:354
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Muckle-Wells Syndrome
Optic atrophy, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Camptod... ORPHA:575
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Astigmatism, Foveal hyperpigmentation, Axenfeld anomaly, ... OMIM:609218
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of... OMIM:151200
Trichothiodystrophy
Osteopenia, Anemia, Joint dislocation, Increased mean corpuscular hemoglobin concentration, Incre... ORPHA:33364
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c... ORPHA:3068
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of t... OMIM:618150
Antley-Bixler Syndrome
Narrow chest, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphology, Joint stif... ORPHA:83
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Abnormal bone ossification, Metaphyseal enchondromatosis, Metaphyseal irregularity, Multiple ench... ORPHA:99646
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, 11 pairs of ribs, Narrow chest, Hemivertebrae, Vertebral segmentation defect OMIM:617661
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia, Hydrocephalus, Camptodactyly of finger, Flexion contracture, Ca... ORPHA:272
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Retinal thinning, Genu valgum, Asteroid hyalosis, Epiphyseal dysplasia, Short phalanx of finger, ... OMIM:132450
Laron Syndrome
Short long bone, Limb undergrowth, Abnormal joint morphology OMIM:262500
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Osteopenia, Fractures of the long bones, Bull's eye maculopathy, Retinal degenerat... ORPHA:157850
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia, High palate ORPHA:2528
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Hyperextensibility of the finger joints, Micrognathia, 11 pairs of ribs OMIM:618356
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Splenomegaly, Bullet-... OMIM:252500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Occipital Horn Syndrome
Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Kyphosis, Aplasia/hypoplasia ... ORPHA:198
Flynn-Aird Syndrome
Increased bone mineral density, Progressive sensorineural hearing impairment, Increased CSF prote... OMIM:136300
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Corneal opacity, Cardiomyopathy, Retinopathy, Abnormal foveal m... ORPHA:580
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Chronic oral candidiasis, Clinodactyly of the 2nd finger, Broad middle phalanx of fin... ORPHA:221139
Kleeblattschaedel
Recurrent corneal erosions, Craniosynostosis, Elbow ankylosis, Hydrocephalus OMIM:148800
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... OMIM:616959
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Facial palsy,... OMIM:611490
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:614576
Familial Calcium Pyrophosphate Deposition
Abnormal intervertebral disk morphology, Joint dislocation, Arthritis, Limitation of joint mobili... ORPHA:1416
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... OMIM:140000
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Abnormal pelvic ... ORPHA:1834
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Stomatitis, Skin rash, Broad ribs, Neutrophili... OMIM:612852
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Burkitt Lymphoma
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Decreased pr... ORPHA:543
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Short neck, Thicke... ORPHA:488434
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splenomegaly,... OMIM:176920
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Broad finger, Perianal abscess, Pectus carinatum, Pectus excavatum, Short phalanx of finger, Brac... OMIM:614684
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Sensorineural hearing impair... ORPHA:1451
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomelia, Radiouln... OMIM:163400
Sponastrime Dysplasia
Kyphoscoliosis, Short long bone, Biconcave vertebral bodies, Mesomelia, Metaphyseal irregularity,... ORPHA:93357
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Pterygium, Abnor... ORPHA:2876
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn... OMIM:178110
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Proximal Symphalangism
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... ORPHA:3250
Dermoids Of Cornea
Corneal opacity OMIM:304730
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Beta-Thalassemia
Reduced bone mineral density, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Infantile Systemic Hyalinosis
Osteopenia, Osteoporosis, Micromelia, Joint stiffness, Camptodactyly of finger, Short palm, Brach... ORPHA:2176
Focal Dermal Hypoplasia
Midclavicular aplasia, Short ribs, Short metacarpal, Split foot, Joint hypermobility, Optic atrop... OMIM:305600
Osteopetrosis, Autosomal Recessive 5
Ascites, Splenomegaly, Ventriculomegaly, Optic atrophy, Cranial hyperostosis, Pancytopenia, Incre... OMIM:259720
Mannosidosis, Alpha B, Lysosomal
Increased vertebral height, Spondylolisthesis, Vacuolated lymphocytes, Gliosis, Femoral bowing, P... OMIM:248500
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Missing ribs ORPHA:1759
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Scoli... ORPHA:2050
3C Syndrome
Optic atrophy, Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hemivertebrae, Kyphosi... ORPHA:7
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Limitation of... ORPHA:93474
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Abnormal antihelix morphology... ORPHA:85194
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Limitation of joint mobility ORPHA:99966
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy OMIM:275400
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Gastroesophageal reflux, Sensorineural hearing impairment, High palate... OMIM:617519
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Narrow chest, Abno... ORPHA:93271
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
2Q24 Microdeletion Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Abnormality iris morphology, Camptodactyly of ... ORPHA:1617
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Pectus carinatum, Micrognathia, Short toe, Flexion contracture, Short neck, Micro... ORPHA:98791
Werner Syndrome
Reduced bone mineral density, Osteoporosis, Elevated hemoglobin A1c, Low back pain, Retinal degen... OMIM:277700
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Epiphyseal stippling, Hydrocephalus, Microtia, Myelomeningocele, Hearing impairmen... ORPHA:1914
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Sjogren-Larsson Syndrome
Macular dots, Retinal thinning, Macular degeneration, Thoracic kyphosis, Macular crystals, Flexio... OMIM:270200
Congenital Syphilis
Optic atrophy, Myocarditis, Periostitis, Pancreatitis, Anemia, Lymphadenopathy, Hydrocephalus, Ch... ORPHA:499009
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Reduced bone mineral density, Abn... ORPHA:1414
Gaucher Disease Type 1
Osteopenia, Anemia, Pathologic fracture, Vertebral compression fracture, Pancytopenia, Splenic in... ORPHA:77259
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Spina bifida occulta, Increase... OMIM:105650
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Abnormal pelvic gird... ORPHA:3027
Thrombocytopenia-Absent Radius Syndrome
Seborrheic dermatitis, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplas... OMIM:274000
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... ORPHA:319675
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Talipes equinovarus, Slender long bone, Narrow chest, Delayed closure of the anterior ... OMIM:264090
Mucopolysaccharidosis Type 1
Optic atrophy, Chronic otitis media, Abnormal aortic valve morphology, Hydrocephalus, Abnormality... ORPHA:579
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo... ORPHA:1067
Hurler Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Hydrocephalus, Abnormality of the tonsils, Abno... ORPHA:93473
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Barrel-shaped chest, Broad thumb, Mesomelia, Brachydactyly, Joint hypermobility, Shor... ORPHA:171866
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Wide anterior... OMIM:619135
Coccidioidomycosis
Skin rash, Broad metatarsal, Granuloma, Pericarditis, Abnormal retinal morphology, Erythema nodos... ORPHA:228123
Thanatophoric Dysplasia Type 2
Abnormal metaphysis morphology, Platyspondyly, Narrow chest, Short thorax, Limitation of joint mo... ORPHA:93274
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Leber Congenital Amaurosis 1
Hepatomegaly, Optic disc drusen, Keratoconus, Sensorineural hearing impairment, Fundus atrophy, A... OMIM:204000
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Optic atrophy, Astigmatism, Calcium oxalate nephrolithiasis, Hydrocephalus, Celiac disease OMIM:248000
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent... OMIM:618805
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Hearing impairment,... OMIM:252920
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Gm1-Gangliosidosis, Type Iii
Hepatomegaly, Splenomegaly, Cherry red spot of the macula, Opacification of the corneal stroma, V... OMIM:230650
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy OMIM:601553
Proteus-Like Syndrome
Retinal detachment, Hyperostosis, Hydrocephalus, Heterochromia iridis, Communicating hydrocephalu... ORPHA:2969
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Meckel Syndrome
Microphthalmia, Ureteral duplication, Anencephaly, Pancreatic fibrosis, Optic atrophy, Abnormal c... ORPHA:564
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos... ORPHA:98848
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proport... ORPHA:98850
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Osteopenia, Aplasia/... ORPHA:221016
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Low-set, posteriorly rotated ears, Hydrocephalus, Septo-optic dysp... ORPHA:1528
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Arthritis, Anemia ORPHA:375
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, C... OMIM:617781
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Narrow chest, Short clavicles, Short long bone, Postaxial hand polydac... OMIM:617088
Macular Degeneration, Age-Related, 3
Joint hypermobility, Macular degeneration, Drusen, Choroidal neovascularization OMIM:608895
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo... OMIM:257200
Tbck-Related Intellectual Disability Syndrome
Broad finger, 11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Scoliosis, Pectus excavatum, Osteo... ORPHA:488632
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hearing impairment, EEG abnormality, Hydrocephalus ORPHA:1008
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:251290
Aicardi Syndrome
Optic atrophy, Butterfly vertebrae, Bifid ribs, Retinal detachment, Scoliosis, Missing ribs, Rib ... ORPHA:50
Cinca Syndrome
Anemia, Arthritis, Skin rash, Leukocytosis, Patellar overgrowth, Papilledema, Hepatosplenomegaly,... OMIM:607115
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:235200
Cockayne Syndrome B
Microphthalmia, Sensorineural hearing impairment, Abnormal pinna morphology, Splenomegaly, Optic ... OMIM:133540
Oculocerebrocutaneous Syndrome
Finger syndactyly, Abnormal rib morphology, Congenital hip dislocation, Missing ribs, Aplasia/Hyp... ORPHA:1647
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Ceroid Lipofuscinosis, Neuronal, 10
Retinal atrophy, Rod-cone dystrophy, Split hand OMIM:610127
Cat Eye Syndrome
Microphthalmia, Biliary atresia, Meckel diverticulum, Intestinal malrotation, Pulmonic stenosis, ... OMIM:115470
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia... ORPHA:3320
C1Q Deficiency 2
Recurrent otitis media, Anemia, Malar rash, Arthritis, Discoid lupus rash, Chilblains, Bronchiect... OMIM:620321
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ritscher-Schinzel Syndrome 1
Micrognathia, Hemivertebrae, Syndactyly, Missing ribs OMIM:220210
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Pectus exc... ORPHA:957
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Talipes equinovarus OMIM:620306
Steel Syndrome
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Scoliosis, Coxa ... OMIM:615155
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:2928
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancytopenia, Thyroidit... OMIM:614700
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An... OMIM:260660
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Gastroesophageal reflux, Epiphyseal stippling, Pancytopenia, Hearing impairment, Up... ORPHA:251009
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Vitritis, Abnormal rib morpho... ORPHA:1163
Vertical Talus, Congenital
Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity OMIM:192950
Ceroid Lipofuscinosis, Neuronal, 5
Vacuolated lymphocytes, Retinal degeneration OMIM:256731
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Recurrent mandibular subluxations, Wide anterior fontanel, Short phalanx of finger, M... OMIM:225410
Laron Syndrome
Micrognathia, Short toe, Osteoarthritis, Brachydactyly, Abnormality of the elbow ORPHA:633
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Kerion Celsi
Lymphadenopathy ORPHA:499
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Optic nerve ... ORPHA:667
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Oculofaciocardiodental Syndrome
Microphthalmia, Retinal detachment, Abnormal cardiac septum morphology, Microcornea, Sensorineura... ORPHA:2712
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Micrognathia, Hand clenching, Short neck, Retinal degeneration OMIM:616211
Frank-Ter Haar Syndrome
Kyphoscoliosis, Broad clavicles, Short long bone, Pectus excavatum, Kyphosis, Wormian bones, Camp... OMIM:249420
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under... ORPHA:453510
Nivelon-Nivelon-Mabille Syndrome
Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Short metacarpal, Micromelia, Short... OMIM:600092
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, N... OMIM:619220
Aicardi-Goutieres Syndrome 6
Hepatomegaly, CSF pleocytosis, Increased CSF interferon alpha, Thrombocytopenia, Splenomegaly, He... OMIM:615010
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Hepatomegaly, Jaundice, Increased urinary porphobilin... OMIM:121300
Congenital Fibrinogen Deficiency
Microphthalmia, Splenic rupture, Volvulus, Developmental cataract, Right ventricular hypertrophy,... ORPHA:335
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Fried Syndrome
Hydrocephalus, High palate, Abnormal optic nerve morphology, Hearing impairment, Macrotia ORPHA:85335
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Abnormal ulnar metaphysis morphology, Finger symphalangism, Osteopenia, Anemia, ... ORPHA:221008
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th... ORPHA:3429
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Recurrent otitis media, Intestinal pseudo-obstruction, Hydrocephalus, Abnormal hear... OMIM:309900
Brachyolmia Type 1, Hobaek Type
Osteopenia, Opacification of the corneal stroma, Corneal opacity OMIM:271530
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short greater sciatic notch, Pectus carinatum, Short ribs, Pectus e... OMIM:312870
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Holoprosencephaly, Chorioretinal coloboma... OMIM:611638
Rothmund-Thomson Syndrome
Aplastic anemia, Hypoplasia of the ulna, Increased susceptibility to fractures, Reduced bone mine... ORPHA:2909
Cat-Eye Syndrome
Microphthalmia, Anal atresia, Hearing impairment, Hydronephrosis, Chorioretinal coloboma, Iris co... ORPHA:195
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol... ORPHA:3242
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Pierpont Syndrome
Microphthalmia, Microcornea, Hearing impairment, Macrotia, Uplifted earlobe, Posteriorly rotated ... ORPHA:487825
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Pigmentary retinopathy ORPHA:3363
Say-Barber-Miller Syndrome
Optic atrophy, Abnormal T cell morphology, Panniculitis, Patellar hypoplasia, Craniosynostosis, A... ORPHA:3132
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Chronic otitis media, Genu valgum, Kyphosis, Joint stiffness, Epi... ORPHA:583
Dracunculiasis
Arthritis, Skin rash, Limitation of joint mobility, Flexion contracture, Recurrent cutaneous absc... ORPHA:231
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Cog1-Cdg
Osteopenia, Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Talipes equinovarus, Short long bone... ORPHA:263508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly, Microphthalmia, Retinal dysplasia OMIM:614830
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Occipital encephalocele, Microphthalmia, Abnormality iris morphology, Optic nerve ... ORPHA:370959
Cree Mental Retardation Syndrome
Rocker bottom foot, Pectus excavatum, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs... OMIM:606851
Refsum Disease
Microphthalmia, Sensorineural hearing impairment, Cardiomyopathy, Retinopathy, Abnormality of ret... ORPHA:773
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Short femur, Finger joint contracture, Symphalangism of the thumb, Increased femoral anteversion,... OMIM:620494
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthritis, Arthropathy, Osteoporosis, Joint stiffness, Splenomegaly, Joint swelling, Abnormal met... ORPHA:465508
Cardioacrofacial Dysplasia 2
Genu valgum, Clinodactyly of the 5th finger, Narrow chest, Clubbing, Postaxial hand polydactyly, ... OMIM:619143
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomeg... OMIM:607616
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Astigmatism, Hypospadias, Gastroesophageal reflux, Low-set, poster... ORPHA:494344
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Wrist flexion contr... ORPHA:800
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Retinal atrophy, Splenomegaly, Ventr... OMIM:216400
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly, Severe sensorineural hearing impairment OMIM:604213
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac... OMIM:267760
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Neutropenia, Joint contracture, Limb undergrowth, Hip dislocation OMIM:618005
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Clinodactyly of the 5th finger, 10 pairs of ribs, 11 pairs ... OMIM:117650
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyl... OMIM:605282
Sjögren-Larsson Syndrome
Inflammatory abnormality of the eye, Macular degeneration, Scoliosis, Kyphosis, Retinopathy, Join... ORPHA:816
Retinitis Pigmentosa 51
Polydactyly, Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retina... OMIM:613464
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... ORPHA:100026
Moebius Syndrome
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Ar... OMIM:157900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Microtia, Retinal atrophy, Corne... OMIM:236670
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Arthropathy, Osteomalacia, Recurrent fractures, Chondrocalcinosis, ... OMIM:146300
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus, EEG with burst suppression OMIM:266100
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy OMIM:610381
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
Knobloch Syndrome
Occipital encephalocele, Abnormal vitreous humor morphology, Dextrocardia, Retinal detachment, Ma... ORPHA:1571
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated r... OMIM:101800
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Seckel Syndrome 5
Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis, Micrognathia, Short middle phalanx o... OMIM:613823
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Polycystic kidney... OMIM:214110
Hypertrichosis Cubiti
Joint hypermobility, Abnormality of the elbow, Rhizomelia, Micromelia ORPHA:2220
Spondylosis, Cervical
Spondylolysis, Spondylolisthesis, Spina bifida occulta, Osteoarthritis, Cervical spondylosis OMIM:184300
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4... OMIM:300853
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Osteolytic defects of the phalanges of the hand, Metat... OMIM:161700
Stickler Syndrome
Chronic otitis media, Reduced bone mineral density, Spondylolisthesis, Abnormal form of the verte... ORPHA:828
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Microphthalmia, Encephalocele, Hydrocephalus, Esophageal ... ORPHA:974
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Joint stiffness, Ovoid thoracolumbar... OMIM:252930
Primary Ciliary Dyskinesia
Chronic otitis media, Situs inversus totalis, Transposition of the great arteries, Recurrent otit... ORPHA:244
Baller-Gerold Syndrome
Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla... ORPHA:1225
Long-Olsen-Distelmaier Syndrome
Subependymal cysts, Microspherophakia, Optic nerve hypoplasia, Low-set ears, Cataract, Elevated c... OMIM:620609
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia OMIM:166990
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Hip dislocation... OMIM:265000
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Osteolysis ORPHA:158014
Hall-Riggs Syndrome
Abnormal metaphysis morphology, Platyspondyly, Scoliosis, Joint stiffness, Limb undergrowth, Brac... ORPHA:2107
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio... OMIM:302960
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Hemochromatosis, Type 3
Arthritis, Neutropenia, Anemia, Lymphopenia OMIM:604250
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Joint hypermobility, Ventriculomegaly, Ventricular septal defect, ... OMIM:602501
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration, Thenar muscle atrophy, Ankle clonus OMIM:604360
Harel-Yoon Syndrome
Optic atrophy, Developmental cataract, Corneal opacity, Hypertrophic cardiomyopathy OMIM:617183
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Sensorineural hearing impairment, Splenomegaly, Aminoaciduria OMIM:230350
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Conju... OMIM:240500
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomega... OMIM:209950
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Recurrent otitis media, Hydrocephalus, Abnormal heart valve morphology, Sensorineur... OMIM:253220
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis ORPHA:2760
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Abnormal rib morphol... ORPHA:2180
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Scoliosis, A... OMIM:272460
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Esophageal atresia, Hypospadias, Hypoplasia of penis, Anophthalmia, Hydrocephalus... ORPHA:77298
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, P... OMIM:619269
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Hypoplasia of the ear c... ORPHA:66661
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip... OMIM:210710
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... ORPHA:2491
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Short metacarpal, Osteoporosis, Subcutaneous ossification, Short ... OMIM:103580
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyper... OMIM:612714
Roifman Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Retinal dystrophy, Noncompaction cardiomyo... OMIM:616651
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Otitis media, Conjunctivitis,... OMIM:601457
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Reduced bone mineral density, Portal fibrosis, Anemia, Hydroce... OMIM:619377
Xylt1-Cdg
Acne, Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short ... ORPHA:370930
Microphthalmia/Coloboma 12
Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ... OMIM:120200
Beta-Mercaptolactate Cysteine Disulfiduria
Genu valgum, Sandal gap, Micromelia, Arachnodactyly, Joint hypermobility ORPHA:1035
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Sideroblastic anemia, Thrombocytopenia, Retinal degenerat... OMIM:249270
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Diaphyseal dysplasia, Platyspondyly, Optic nerve compression, Increased interverte... OMIM:619727
Dent Disease
Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, E... ORPHA:1652
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Panniculitis, Myositis, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Thrombocytopenia... OMIM:617591
Localized Scleroderma
Sclerosis of finger phalanx, Arthritis, Abnormal bone structure, Esophagitis, Upper limb asymmetr... ORPHA:90289
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones OMIM:114000
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Gastritis, Mediastinal lymphadenopathy, G... ORPHA:809
Opsismodysplasia
Posterior rib cupping, Rhizomelia, Bell-shaped thorax, Narrow chest, Metaphyseal cupping, Hypopla... OMIM:258480
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Sensorineural ... OMIM:310600
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Stüve-Wiedemann Syndrome
Abnormal metaphysis morphology, Osteopenia, Genu valgum, Abnormal cortical bone morphology, Sacra... ORPHA:3206
Glut1 Deficiency Syndrome 2
Increased CSF lactate, Reticulocytosis, Splenomegaly, Hypoglycorrhachia, EEG abnormality, Hemolyt... OMIM:612126
Roifman Syndrome
Recurrent otitis media, Lymphadenopathy, Retinal dystrophy, Noncompaction cardiomyopathy, Delayed... ORPHA:353298
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra... OMIM:614034
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Elevated circulating aspartate aminotransferase concent... OMIM:607091
Trisomy 13
Optic atrophy, Atrial septal defect, High, narrow palate, Microphthalmia, Anophthalmia, Abnormal ... ORPHA:3378
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Wide anterior fontanel, Anemia of inadequate production, Persistence ... OMIM:613673
Nasu-Hakola Disease
Acute leukemia, Reduced bone mineral density, Functional abnormality of the gastrointestinal trac... ORPHA:2770
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal... ORPHA:91495
Pde4D Haploinsufficiency Syndrome
Caudal interpedicular narrowing, Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, ... ORPHA:439822
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, Cataract OMIM:615181
Wiedemann-Steiner Syndrome
Abnormality of the hand, Sacral dimple, Rhizomelia, Clinodactyly of the 5th finger, Hyperextensib... ORPHA:319182
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Aicardi Syndrome
Optic atrophy, Butterfly vertebrae, Proximal placement of thumb, Retinal detachment, Scoliosis, H... OMIM:304050
Refsum Disease, Classic
Sensorineural hearing impairment, Cardiomyopathy, Increased CSF protein concentration, Cataract, ... OMIM:266500
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Long thorax, Genu valgum, Limb undergrowth OMIM:619142
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Patellar hypoplasia, Flexion contracture of digit, Hyperextensibility of the fing... ORPHA:3041
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Jacobsen Syndrome
Optic atrophy, Clinodactyly of the 5th finger, Pectus excavatum, Missing ribs, Micrognathia, Thro... OMIM:147791
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Micromelia OMIM:273680
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Broad distal phalanx... ORPHA:2636
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Elbow flexion contracture, Hydrocephalus OMIM:619470
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom... OMIM:613313
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Hypoplastic left atrium, Intestinal malrotation, Cleft palate, Vent... OMIM:615524
Microlissencephaly-Micromelia Syndrome
Bilateral single transverse palmar creases, 11 pairs of ribs, Micromelia, Short neck, Adducted thumb ORPHA:50810
Codas Syndrome
Genu valgum, Proximal placement of thumb, Delayed ossification of carpal bones, Scoliosis, Short ... OMIM:600373
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... ORPHA:95699
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Retinal fold OMIM:613517
Alpha-Mannosidosis, Infantile Form
Osteopenia, Cranial hyperostosis, Mixed hearing impairment, Astigmatism, Joint hypermobility, Pan... ORPHA:309282
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc... OMIM:610377
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Intestinal polyposis, Low-set, posteriorly rotated ears, Stomach cancer, Dandy-Wa... ORPHA:1052
Takayasu Arteritis
Anemia, Inflammatory abnormality of the eye, Arthritis, Retinopathy, Increased inflammatory response ORPHA:3287
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Anteverted ears, Chorioretinal coloboma, Iris coloboma OMIM:300915
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Trichorhinophalangeal Syndrome Type 1
Clinodactyly of the 5th finger, Short metatarsal, Pectus carinatum, Scoliosis, Hyperlordosis, Sho... ORPHA:77258
Martsolf Syndrome 1
Talipes valgus, Slender ulna, Talipes equinovarus, Tracheomalacia, Pectus carinatum, Short metaca... OMIM:212720
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Rieger anom... OMIM:109120
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Kyphoscoliosis, Sacral dimple, Calvarial osteoscleros... OMIM:616331
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Hydrocephalus, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Skin rash, Synovitis, Serositis, Glomerulonephritis ORPHA:567544
Chromosome 6Pter-P24 Deletion Syndrome
Ocular anterior segment dysgenesis, Hydrocephalus, Sensorineural hearing impairment, Patent foram... OMIM:612582
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conce... ORPHA:1454
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s... OMIM:610017
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Fused cervical vertebrae, Optic nerve hypoplasia, Patent foramen ova... OMIM:609053
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, High palate, Abnormal auditory evoked potentials, Abnormality of visual evoked poten... OMIM:617523
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Frontonasal Dysplasia 1
Microphthalmia, Low-set ears, Anterior basal encephalocele, Camptodactyly, Median cleft palate, C... OMIM:136760
Omodysplasia 1
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... OMIM:258315
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hypospadias, Hydrocephalus, Histiocytoid cardiomyopathy, Ventricular septal defec... OMIM:309801
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Vesicoureteral refl... ORPHA:85284
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Craniosynostosis, Colitis ORPHA:88643
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Sensorineural hearing impairment, Elbow flexion contracture, Camptodactyly, Osteo... OMIM:214150
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, 3-Methylglutaconic aciduria, Optic nerve hypoplasia, Corneal opacity, Hypertrophic... ORPHA:496790
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Ventriculomegaly, Hydrocephalus, Keratoconus, Anal atresia, Camptodactyly of toe, Ab... OMIM:175700
Pfapa Syndrome
Arthritis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Platyspondyly, Narrow chest, Short clavicles, Pectus carina... OMIM:304150
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo... ORPHA:2930
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormal shoulder morphology, Abnormality of the wrist, Iritis, Polyarticular arthritis, Malar ra... ORPHA:85436
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Short metacarpal, Radial head subluxation, Carpal synostosis, Metacarpophalang... OMIM:186400
Oculoauricular Syndrome
Microphakia, Microphthalmia, Phthisis bulbi, Ocular anterior segment dysgenesis, Chorioretinal at... OMIM:612109
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Jaundice, Abnormal liver parenchyma morphology, Anemi... ORPHA:64743
Fryns Syndrome
Microphthalmia, Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Low-set, posteriorly... ORPHA:2059
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin... OMIM:300635
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Recurrent otitis media, Microphthalmia, Unilateral renal agenesis, Gastroeso... OMIM:618494
Lissencephaly 8
Optic atrophy, Occipital encephalocele, Microphthalmia, Cataract, Ventriculomegaly OMIM:617255
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, S... ORPHA:3226
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus, Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Intervertebral space narrowing, Narrow iliac wi... OMIM:609162
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Banki Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... ORPHA:1228
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Synostosis of carpal bones, Leukocytosi... ORPHA:2307
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Familial Papillary Or Follicular Thyroid Carcinoma
Recurrent fractures, Colon cancer, Abnormal lymph node morphology, Chronic noninfectious lymphade... ORPHA:319487
Dpm1-Cdg
Optic atrophy, Sandal gap, Camptodactyly, Retinopathy, Long hallux, Micrognathia, Hepatosplenomeg... ORPHA:79322
Wilson Disease
Sunflower cataract, Portal fibrosis, Ascites, Acute hepatic failure, Dysphagia, Splenomegaly, Joi... OMIM:277900
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Immunodeficiency 96
Recurrent otitis media, Increased mean corpuscular volume, Conjunctival telangiectasia, Increased... OMIM:619774
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Generalized bone demineralization, Nephrotic syndrome, Mucopolysaccha... OMIM:215250
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia, Thrombocytope... ORPHA:47
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Intrahepatic cholestasis, Cirrhosis, Jaundice, Hepatomegaly, Giant cell hep... OMIM:607765
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Muenke Syndrome
Tarsal synostosis, Short foot, Coronal craniosynostosis, Short palm, Cone-shaped epiphysis, Carpa... ORPHA:53271
Lissencephaly 5
Optic atrophy, Occipital encephalocele, Hydrocephalus, Hearing impairment, Cataract OMIM:615191
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Acne ORPHA:77296
Cockayne Syndrome Type 1
Optic atrophy, Abnormality of peripheral nerve conduction, Hepatomegaly, Anemia, Elevated circula... ORPHA:90321
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Joint stiffness, Spi... OMIM:277600
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures, Colon cancer, Abnormal lymph node morphology, Chronic noninfectious lymphade... ORPHA:97290
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level OMIM:274270
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Lymphadenopathy, Ventriculomegaly, Arthritis, Decreased FOXP3-expressing... OMIM:304790
Free Sialic Acid Storage Disease
Hepatomegaly, Reduced bone mineral density, Ascites, Nephrotic syndrome, Iris hypopigmentation, S... ORPHA:834
Edinburgh Malformation Syndrome
Hydrocephalus, Jaundice OMIM:129850
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Microphthalmia, Elevated circulating hepatic transaminase concentration, Low-set e... OMIM:612379
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Aplasia/Hypoplas... OMIM:184705
Mucopolysaccharidosis Type 7
Epiphyseal stippling, Corneal opacity, Ascites, Mucopolysacchariduria, Joint stiffness, Splenomeg... ORPHA:584
Erythrokeratodermia Variabilis
Cataract, Hearing impairment, Corneal opacity, Protruding ear ORPHA:317
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hearing impai... OMIM:619658
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, C... OMIM:306955
Cockayne Syndrome Type 3
Microphthalmia, Elevated circulating hepatic transaminase concentration, Retinal atrophy, Cardiom... ORPHA:90324
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Pectus e... OMIM:130000
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Joint stiffness, Camptodactyl... OMIM:607015
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Bone m... ORPHA:86839
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Flexion contracture of toe, Joint contracture of the 5th finger, Sensorineural hea... OMIM:602782
Peroxisome Biogenesis Disorder 5A (Zellweger)
Sensorineural hearing impairment, Cholestasis, Renal cortical microcysts, Colpocephaly, Splenomeg... OMIM:614866
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:294
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:79312
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Pulmonic stenosis, Optic atrophy, Tr... OMIM:201000
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Cystinosis
Rickets, Corneal opacity, Nephropathy, Portal hypertension, Retinopathy, Proteinuria, Renal insuf... ORPHA:213
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Cholesteryl Ester Storage Disease
Steatorrhea, Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepati... OMIM:278000
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia, Und... OMIM:618804
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased B cell count, Hepatosplenomegaly, Increased pr... OMIM:618982
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Macular degeneration, Choroidal neovascularization, Syndactyly ORPHA:404451
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Recurrent otitis media, Mediastinal lymphadenopathy, Hemophagocytosi... OMIM:619802
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the... ORPHA:85450
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Splenomeg... OMIM:616100
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... OMIM:185800
Scheie Syndrome
Short neck, Retinal degeneration, Genu valgum, Spondylolisthesis OMIM:607016
Mogs-Cdg
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, High palate, Absent brainstem audi... ORPHA:79330
Fanconi Anemia, Complementation Group R
Microphthalmia, Radial dysplasia, Anemia, Hydrocephalus, Pelvic kidney, Anal atresia, Bone marrow... OMIM:617244
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An... ORPHA:540
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... ORPHA:1120
Phosphoribosylaminoimidazole Carboxylase Deficiency
Clinodactyly of the 5th finger, Lumbar hemivertebrae, Missing ribs, Short neck, Talipes equinovarus OMIM:619859
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, 11 pairs of ribs, Craniosynostosis, Accessory spleen, Delayed cranial suture closure, Sev... OMIM:620005
Overlap Myositis
Subluxation of the small joints of the hand, Proximal muscle weakness in upper limbs, Arthritis, ... ORPHA:206572
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Methylmalonic aciduria, Homocystinuria OMIM:277410
Mucolipidosis Type Iii Alpha/Beta
Recurrent otitis media, Keratan sulfate excretion in urine, Sensorineural hearing impairment, Cor... ORPHA:423461
Morquio Syndrome C
Corneal opacity OMIM:252300
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Long palm, Scoliosis, Pectus excavatum, Kyphosis, Hemiatrophy, Metatarsus addu... ORPHA:2215
Pyruvate Dehydrogenase E1-Alpha Deficiency
Single transverse palmar crease, Gliosis, Basal ganglia gliosis, Limb undergrowth, Flexion contra... ORPHA:79243
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Arthritis, Narrow foramen obturatorium, Osteolysis ORPHA:220393
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S... ORPHA:79477
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, L... OMIM:152700
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis OMIM:118600
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Short metacarpal, Short foot, Hypop... OMIM:614813
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Optic neuritis, Crohn's disease, Neut... ORPHA:436159
Kapur-Toriello Syndrome
Joint contracture of the hand, Microphthalmia, Low-set ears, Retinal coloboma, Intestinal malrota... OMIM:244300
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... ORPHA:85165
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular... OMIM:613490
Kid Syndrome
Palmoplantar keratoderma, Delayed pubic bone ossification, Patellar hypoplasia, Keratoconjunctivi... ORPHA:477
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Recurrent tonsillitis, Lymphadenopathy, Crohn's disease, Acute pa... OMIM:618935
Diabetic Embryopathy
Transposition of the great arteries, Ureteral duplication, Low-set, posteriorly rotated ears, Hyd... ORPHA:1926
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Arthritis, Skin rash, Leukocytosis, Splenomegaly, Erythema nodosum OMIM:611762
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Retinopathy,... OMIM:603903
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Emanuel Syndrome
Intestinal malrotation, Pulmonic stenosis, Aortic valve stenosis, Ventriculomegaly, Astigmatism, ... OMIM:609029
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ... ORPHA:33110
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Dilated fourth ventricle, Microphthalmia, Retinal dysplasia OMIM:615771
Sanjad-Sakati Syndrome
Intestinal obstruction, Astigmatism, Low-set, posteriorly rotated ears, Hypoplasia of penis, Abno... ORPHA:2323
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Spina bifida occulta, Retinal detachment, Retinal vascular pro... ORPHA:464
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Scoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Splenomegaly, Thickene... OMIM:252900
Mucopolysaccharidosis Type 2, Severe Form
Sensorineural hearing impairment, Corneal opacity, Cardiomyopathy, Dermatan sulfate excretion in ... ORPHA:217085
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Ectopic anus, High palate, Low-set ears, Camptodactyly of toe, Hearing ... ORPHA:251038
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... OMIM:184400
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Single transv... OMIM:619297
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Bronchiectasis, Osteoarthritis, Joint hypermobility, Small thenar eminence OMIM:620080
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration, Abnormal limb bone morphology ORPHA:1573
Roberts Syndrome
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... ORPHA:3103
Pierpont Syndrome
Microphthalmia, Microcornea, Hearing impairment, Posteriorly rotated ears, Large fleshy ears, Mic... OMIM:602342
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Unilateral renal agenesis, Corneal opacity, Abnormal stomach morphology, Renal in... ORPHA:281090
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Reticulocyt... ORPHA:300298
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Bone marro... OMIM:301108
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Hearing impairment, Peters anomaly, Iris colo... OMIM:610023
Idiopathic Hypereosinophilic Syndrome
Clubbing, Splenomegaly, Cholangitis, Myelofibrosis, Swelling of proximal interphalangeal joints, ... ORPHA:3260
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Thrombocytopenia OMIM:619301
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Retinal dystrophy, Anophthalmia, Sensorineural hearing impairment, Microcornea, H... ORPHA:139471
Familial Dysautonomia
Optic atrophy, Corneal erosion, Gastroesophageal reflux, Abnormal peritoneum morphology, Orthosta... ORPHA:1764
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Hemophagocytosis, Lymphadenopa... OMIM:301078
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Sensorineural hearing impairment, Patent foramen ovale, Ventricular septal defect... OMIM:618652
Waardenburg Syndrome, Type 3
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Brachydactyly, Clinodacty... OMIM:148820
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Micrognathia, Brachydactyly, Short neck, Rod-co... ORPHA:436245
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Irregular epiphyses, Platyspondyly, Small epiphyses, Metaphyseal striatio... OMIM:610442
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retin... OMIM:193220
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Delayed cranial suture closure, Osteolytic defects of the distal phalanges of th... OMIM:608612
Mucopolysaccharidosis Type 2, Attenuated Form
Sensorineural hearing impairment, Corneal opacity, Cardiomyopathy, Dermatan sulfate excretion in ... ORPHA:217093
Alkaptonuria
Increased susceptibility to fractures, Reduced bone mineral density, Prostatitis, Intervertebral ... ORPHA:56
Aspartylglucosaminuria
Beaking of vertebral bodies, Chronic otitis media, Abnormal vertebral morphology, Abnormal cortic... ORPHA:93
Orofaciodigital Syndrome Xiv
Preaxial polydactyly, Aplasia of the epiglottis, Short ribs, Postaxial hand polydactyly, Retinal ... OMIM:615948
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent fractures OMIM:618107
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... OMIM:602418
Cerebrotendinous Xanthomatosis
Optic atrophy, Osteopenia, Decreased nerve conduction velocity, Cholelithiasis, Juvenile cataract... ORPHA:909
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... ORPHA:1215
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Fabry Disease
Reduced bone mineral density, Sensorineural hearing impairment, Corneal opacity, Left ventricular... ORPHA:324
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Limited elbow movement, Elevated circulating hepatic transaminase concen... OMIM:300280
Maternal Uniparental Disomy Of Chromosome 2
Clinodactyly of the 5th finger, C1-C2 vertebral abnormality, Abnormality of the ankle, Preaxial h... ORPHA:96179
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Cholelithiasis, Pancytopenia, Hydrocephalus, Bacterial endocarditis, Aortic valve calcifi... ORPHA:2072
Crouzon Syndrome
Optic atrophy, Narrow palate, Hydrocephalus, Multiple suture craniosynostosis, Hearing impairment... ORPHA:207
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Pseudomyxoma Peritonei
Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Ascites, Inflammation of... ORPHA:26790
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Osteoarthritis, Cataract, Hepatic steatosis OMIM:606069
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Camptodactyly, Macrotia, Knee flexion contracture, Cataract OMIM:619694
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:615297
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Splenomegaly,... OMIM:618495
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, Hyperextensibility of the fi... OMIM:151050
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Abnormal earlobe morphology, Abnormal rectum morphology, Corneal opacity, Mitral ... ORPHA:2556
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Hydrocephalus, Mitral valve calcification, Mitral stenosis, Splenomeg... OMIM:231005
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Short metacarpal, Osteoporosis, Brachydactyly, Short neck OMIM:612462
Hsd10 Disease, Infantile Type
Optic atrophy, Abnormal concentration of acylcarnitine in the urine, Increased CSF lactate, Hyper... ORPHA:391428
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal rib morphology, ... ORPHA:93317
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pu... OMIM:221900
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Radial deviation of finger, Retinal dystrophy, Hyperauto... OMIM:209900
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Short long bone, Bowing of the long bones, Anisospondyly, Micromelia, Micrognathia, Th... OMIM:224410
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hepatic failure ORPHA:75234
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... ORPHA:1830
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Sensorineural hearing impairment, Dandy-Walker malformation, Corneal opacity, Limitation ... ORPHA:2719
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Warburg Micro Syndrome 3
Optic atrophy, Narrow palate, Microphthalmia, Microcornea, Macrotia, Shallow anterior chamber, De... OMIM:614222
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Papillorenal Syndrome
Microphthalmia, Sensorineural hearing impairment, Joint hypermobility, Stage 5 chronic kidney dis... OMIM:120330
Adult-Onset Still Disease
Myocarditis, Anemia, Arthritis, Skin rash, Interstitial pneumonitis, Leukocytosis, Pericarditis, ... ORPHA:829
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Robinow Syndrome
Kyphoscoliosis, Mesomelic arm shortening, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Mic... ORPHA:97360
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Overlapping toe, Sacrococc... ORPHA:221120
Alpha-N-Acetylgalactosaminidase Deficiency
Gastroesophageal reflux, Cataract, Hearing impairment, Cardiomegaly, Oligosacchariduria ORPHA:3137
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets OMIM:193100
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Oculocerebral Hypopigmentation Syndrome, Preus Type
Reduced bone mineral density, Hydrocephalus, High palate, Hearing impairment, Iris hypopigmentati... ORPHA:2720
Thoracic Dysplasia-Hydrocephalus Syndrome
Abnormal metaphysis morphology, Limb undergrowth, Narrow chest ORPHA:1861
Curry-Jones Syndrome
Microphthalmia, Intestinal malrotation, Optic disc coloboma, Craniosynostosis, Ventriculomegaly, ... ORPHA:1553
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Arthritis, Sensorineur... ORPHA:36412
Lethal Congenital Contracture Syndrome 10
Stiff neck, Narrow chest, Short long bone, Femoral bowing, Hypoplasia of the thymus, Short neck, ... OMIM:617022
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Mesomelia-Synostoses Syndrome
Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacarpal synostosi... OMIM:600383
Dextrocardia
Situs inversus totalis, Dextrocardia, Meckel diverticulum, Hydrocephalus, Pancreatic hypoplasia, ... ORPHA:1666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Hydrocephalus, Sensorineural hearing impairment, Flexion ... OMIM:615249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Atrial septal defect, Microphthalmia, Transposition of the great arteries, Retinal... OMIM:253800
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, C... OMIM:608836
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly, Dysphagia ORPHA:50251
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chron... ORPHA:98849
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Urinary bladder sphincter ... ORPHA:320401
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ... OMIM:619644
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Weill-Marchesani Syndrome 2
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi... OMIM:608328
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Hearing imp... ORPHA:349
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Bell-shaped thorax, Short ribs, Retinopathy, Splenomegaly, Chronic ... OMIM:615636
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Lymph... ORPHA:424019
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt... OMIM:206100
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Hydr... OMIM:245200
Hardikar Syndrome
Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, B... OMIM:301068
Floating-Harbor Syndrome
Kyphoscoliosis, Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th fing... OMIM:136140
Raine Syndrome
Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Pectus ex... OMIM:259775
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dandy-Walker malformation, Chorioretinal atrophy, Low-set ears, Aortic valve steno... OMIM:220220
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, High palat... OMIM:609637
American Trypanosomiasis
Myocarditis, Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ... ORPHA:3386
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Osteoporosis, Pigmentary retinopathy OMIM:560000
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Arthritis, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy OMIM:602390
Coach Syndrome 1
Occipital encephalocele, Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, El... OMIM:216360
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Optic atrophy, EEG abnormality, Hypsarrhythmia, Hydrocephalus OMIM:618174
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Osteopetrosis, Prominent floating ribs, Anemia, Pancytopenia, Retinal atrophy, Pec... ORPHA:2785
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Hypoplastic iliac wing, Pectus carinatum, Flared iliac wing, Joint stiffness, Spl... OMIM:253200
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Optic nerve hypoplasia, Oligodactyly, Short humerus,... OMIM:218600
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Chediak-Higashi Syndrome
Jaundice, Neutropenia, Hemophagocytosis, Hepatomegaly, Anemia, Lymphadenopathy, Decreased nerve c... OMIM:214500
Meckel Syndrome, Type 8
Occipital encephalocele, Enlarged kidney, Microphthalmia, Encephalocele, Anophthalmia, Polycystic... OMIM:613885
Graft Versus Host Disease
Gastrointestinal inflammation, Limited elbow movement, Dupuytren contracture, Hemophagocytosis, I... ORPHA:39812
Image Syndrome
Metaphyseal dysplasia, Micromelia ORPHA:85173
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Microphthalmia, Beta-alaninuria, High palate, Elevated uri... OMIM:614105
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Abnormal intervertebral disk morphology, Platyspondyly, Osteoarthritis ORPHA:1345
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Gaucher Disease, Type I
Anemia, Vertebral compression fracture, Pancytopenia, Thrombocytopenia, Splenomegaly, Erlenmeyer ... OMIM:230800
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h... OMIM:617068
Familial Cold Autoinflammatory Syndrome 1
Arthritis, Skin rash, Leukocytosis, Conjunctivitis, Uveitis OMIM:120100
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Hypsarrhythmia, Dysphagia, Ventriculomegaly, Micropenis, EEG with burst suppression OMIM:308350
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Low-set ears, Retinal coloboma, Intestinal malrotation, Atre... ORPHA:2328
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Con... ORPHA:3392
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Hepatoce... OMIM:619463
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula... OMIM:608161
Atypical Werner Syndrome
Rocker bottom foot, Reduced bone mineral density, Osteolytic defects of the phalanges of the hand... ORPHA:79474
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Splenomegaly,... OMIM:615387
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ... OMIM:212550
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Ventricular hypertrophy, Tetralogy of Fallot, Posteriorly rotated ears, Atrial se... OMIM:300887
B4Galt1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Dandy-Walke... ORPHA:79332
Harderoporphyria
Increased fecal harderoporphyrin, Hepatomegaly, Increased urine harderoporphyrin level, Increased... OMIM:618892
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Rickets, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Recurrent fr... OMIM:268315
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia, Hydrocephalus, Low-set ears, Developmental cataract, Lateral ventr... OMIM:614219
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Mosaic Trisomy 8
Clinodactyly of the 5th finger, Deep palmar crease, Narrow chest, Scoliosis, Vertebral segmentati... ORPHA:96061
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Methylmalonic Acidemia With Homocystinuria
Retinopathy, Hydrocephalus ORPHA:26
Myhre Syndrome
Abnormal metaphysis morphology, Platyspondyly, Craniofacial hyperostosis, Large iliac wing, Abnor... ORPHA:2588
Meckel Syndrome, Type 4
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation... OMIM:611134
4Q21 Microdeletion Syndrome
Scoliosis, Kyphosis, Micromelia, Short palm, Short neck, Toe syndactyly, Short foot, Small hand ORPHA:238750
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Microphthalmia, Bilateral cleft palate, Corneal opacity,... OMIM:619339
H Syndrome
Corneal arcus, Enlarged kidney, Lymphadenopathy, Hydrocephalus, Recurrent fractures, Camptodactyl... ORPHA:168569
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Corneal neovascularization, Reduced bone mineral density, Elevated circulating hepatic transamina... ORPHA:404454
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Gastroesophageal reflux, Retinal detachment, Hydrocephalus, High palate, Hearing i... OMIM:619833
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Mccune-Albright Syndrome
Abnormal femur morphology, Pancreatitis, Aneurysmal bone cyst, Pancytopenia, Scoliosis, Polyostot... ORPHA:562
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cryoglobulinemic Vasculitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa... ORPHA:91138
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Micro Syndrome
Optic atrophy, Microphthalmia, Low-set, posteriorly rotated ears, Hypoplasia of penis, Microcorne... ORPHA:2510
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp... ORPHA:457077
Histiocytoid Cardiomyopathy
Optic atrophy, Microphthalmia, Hepatomegaly, Hydrocephalus, Corneal opacity, Congenital aphakia, ... ORPHA:137675
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Kyphosis, Joint stiffness, Abnormal epiphysis morphology, Joint ... ORPHA:534
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Developmental glaucoma, Splenic cyst, Polycystic kidney dysplasia, Sens... OMIM:610199
Peroxisome Biogenesis Disorder 1A (Zellweger)
Subependymal cysts, Sensorineural hearing impairment, Prolonged neonatal jaundice, Renal cortical... OMIM:214100
Emanuel Syndrome
Severe hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Dysphagia, Vent... ORPHA:96170
Wiskott-Aldrich Syndrome
Chronic otitis media, Sinusitis, Abnormal platelet morphology, Lymphopenia, Neutropenia, Abnormal... ORPHA:906
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Bone cyst, Arthritis, Clubbing, Chorioretinitis, Optic neuropathy, Inflammation of ... OMIM:181000
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Meckel diverticulum, Low-set ears, Pyloric stenosis, Hearing impairment, Abdomina... OMIM:616395
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy, Aspiration pneumonia ORPHA:79264
Temtamy Syndrome
Microphthalmia, Low-set ears, Chorioretinal coloboma, Joint hypermobility, Iris coloboma ORPHA:1777
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Pectus excavatum, Arachnodactyly, Paranasal sinus hypoplasia, Craniof... OMIM:300373
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Sclerosis of hand bone, Pericardial effusi... ORPHA:2905
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V... OMIM:615895
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, Sa... OMIM:213980
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,... OMIM:208540
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Pancreatitis, Retinal atrophy, Arachnodactyly, Iridocyclitis, Ankle clonus, Adducted thumb ORPHA:412057
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Abnormal lymp... OMIM:612783
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia, Microphthalmia ORPHA:3469
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Undetectable visual evoked potentials, Hydrocephalus, Dandy-Walker malformat... ORPHA:163961
Desmosterolosis
Osteopetrosis, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Increased bone min... ORPHA:35107
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
22Q11.2 Deletion Syndrome
Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, An... ORPHA:567
Catel-Manzke Syndrome
Genu valgum, Clinodactyly of the 5th finger, Short metacarpal, Camptodactyly, Ulnar deviation of ... OMIM:616145
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy, Sandal gap, Single transverse palmar crease, Micromelia, Hyposegmentation of neutr... OMIM:614800
Abetalipoproteinemia
Osteopenia, Steatorrhea, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamina... ORPHA:14
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Absence of lymph ... OMIM:608184
Apert Syndrome
Chronic otitis media, Limited elbow movement, Pectus carinatum, Broad thumb, Syndactyly, Craniosy... OMIM:101200
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele, Craniosynostosis OMIM:218670
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Fg Syndrome Type 1
Hypospadias, Gastroesophageal reflux, Ventriculomegaly, Hydrocephalus, Optic nerve hypoplasia, Li... ORPHA:93932
Rhabdoid Tumor
Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
3P25.3 Microdeletion Syndrome
Sacral dimple, Proximal placement of thumb, Scoliosis, Broad thumb, Postaxial polydactyly, Microg... ORPHA:435638
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum OMIM:617798
Hartsfield Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Encephalocele, Lobar holoprosencephaly, Cleft ... ORPHA:2117
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Osteopetrosis, Microphthalmia, Increased bone mineral density, Mic... OMIM:617306
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Microretrognathia, Chronic otitis media, Abnormal rib morphology ORPHA:276422
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hyperlordosis, Vertebral segmentation... ORPHA:1323
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Comedonal acne, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Arthritis, Eosinophilia, Fasciitis ORPHA:3165
Ehlers-Danlos Syndrome, Hypermobility Type
Joint hypermobility, Osteoarthritis, Joint dislocation OMIM:130020
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal p... ORPHA:1433
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Decreased carnitine level ... OMIM:212140
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, ... ORPHA:2538
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Joint stiffness, Bone marrow hypocellularity, Abnormal heart morphology, Leukope... ORPHA:505248
Coach Syndrome 2
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hydrocephalus, Congenit... OMIM:619111
Fanconi Anemia
Microphthalmia, Reduced bone mineral density, Meckel diverticulum, Abnormal pinna morphology, Tra... ORPHA:84
Loeys-Dietz Syndrome 5
Kyphoscoliosis, Increased arm span, Flexion contracture of toe, Spondylolisthesis, Pectus carinat... OMIM:615582
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
Bullous Impetigo
Septic arthritis, Pustule, Recurrent bacterial skin infections ORPHA:36237
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Mmep Syndrome
Microphthalmia, Ventricular septal defect ORPHA:3434
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Epiphyseal stippling, Sensorineural hearing impairment, Microcornea, Anterior rib... ORPHA:35173
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Recurrent otitis media, Rhizomelia, Narrow chest, Wide anterior fontanel, Tibial bowing, Femoral ... OMIM:616482
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Br... OMIM:113300
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera... ORPHA:2470
Congenital Disorder Of Deglycosylation 1
3-Methylglutaconic aciduria, Decreased sensory nerve conduction velocity, Hepatomegaly, Elevated ... OMIM:615273
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... OMIM:170390
Wolf-Hirschhorn Syndrome
Chronic otitis media, Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Kyphosis, R... ORPHA:280
Vexas Syndrome
Nasal chondritis, Macrocytic anemia, Arteritis, Arthritis, Thrombocytopenia, Inflammatory abnorma... OMIM:301054
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco... OMIM:615145
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Fanconi-Bickel Syndrome
Rickets, Bowing of the long bones, Osteopenia ORPHA:2088
Attrv30M Amyloidosis
Vitreous floaters, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abnormal renal p... ORPHA:85447
Slc39A8-Cdg
Osteopenia, Elbow flexion contracture, Limb undergrowth, Cutaneous syndactyly of toes, Knee flexi... ORPHA:468699
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Diencephalic Syndrome
Optic atrophy, Macrotia, Hydrocephalus, Long penis ORPHA:1672
Tangier Disease
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Opacification of the c... OMIM:205400
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, EEG abnormality, Hypertrophic cardiomyopathy OMIM:614096
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Unilateral renal agenesis, Aniridia, Corneal opacity, Communicating hydro... ORPHA:1064
Hand-Foot-Genital Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsa... ORPHA:2438
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas... ORPHA:231736
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Scoliosis, Hand polydactyly, Micrognathia, Rib fusion, Craniosynos... ORPHA:261197
Autosomal Dominant Keratitis
Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy OMIM:105200
Congenital Myopathy 8
Cardiomegaly, High palate OMIM:618654
Marshall Syndrome
Abnormal vitreous humor morphology, Genu valgum, Retinal detachment, Vitreoretinopathy, Hypoplast... ORPHA:560
Nephronophthisis 18
Nephronophthisis, Portal fibrosis, Hydrocephalus, Cholestasis, Stage 5 chronic kidney disease, Tu... OMIM:615862
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Protein-losing enteropathy, Impaired lymphocyte transfor... OMIM:614162
Neu-Laxova Syndrome
Rickets, Osteopenia, Pterygium, Scoliosis, Osteoporosis, Micromelia, Micrognathia, Large hands, F... ORPHA:2671
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Ductal bile plugs, Ve... OMIM:617394
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Hypercholanemia, Familial 1
Rickets OMIM:607748
Congenital Erythropoietic Porphyria
Osteopenia, Keratoconjunctivitis, Recurrent bacterial skin infections, Osteoporosis, Reticulocyto... ORPHA:79277
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Abnormal retinal morphology... ORPHA:33276
Eisenmenger Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Atrioventricular canal defec... ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly, Increased CSF lactate, High palate, Hypertrophic cardiomyopathy, Re... OMIM:619053
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal... ORPHA:377
Lesch-Nyhan Syndrome
Anemia, Gout ORPHA:510
Joubert Syndrome 37
Microphthalmia, Hepatomegaly, High palate, Low-set ears, Hydronephrosis, Posteriorly rotated ears... OMIM:619185
6Q Terminal Deletion Syndrome
Scoliosis, Prominent metopic ridge, Aplasia/Hypoplasia of the ribs, Micrognathia, Joint hypermobi... ORPHA:75857
Hajdu-Cheney Syndrome
Decreased skull ossification, Intestinal malrotation, Aortic valve stenosis, Splenomegaly, Multip... ORPHA:955
Distal Triplication 15Q
Hydrocephalus, Polycystic kidney dysplasia, Corneal dystrophy, Sensorineural hearing impairment, ... ORPHA:314588
Adams-Oliver Syndrome 6
Truncus arteriosus, Esophageal varix, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepati... OMIM:616589
Nance-Horan Syndrome
Microphthalmia, Retinal detachment, Microcornea, Cataract, Protruding ear ORPHA:627
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Hydr... ORPHA:3452
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal rib morphology, Microme... ORPHA:3015
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:2970
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Gastroesophageal reflux, Per... OMIM:201475
Tangier Disease
Anemia, Facial diplegia, Corneal opacity, Chronic noninfectious lymphadenopathy, Coronary artery ... ORPHA:31150
Temtamy Syndrome
Microphthalmia, Lens luxation, Low-set ears, Ectopia lentis, Chorioretinal coloboma, Lop ear, Ven... OMIM:218340
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Craniosynostosis, Low-set ears ORPHA:1516
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Scoliosis, Kyphosis, Micromelia, Hypoplastic scapulae ORPHA:79107
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegal... ORPHA:75233
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,... ORPHA:264580
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Trisomy 17P
Hypoplasia of penis, Hydrocephalus, Polycystic kidney dysplasia, High palate, Low-set ears, Aorti... ORPHA:261290
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Luscan-Lumish Syndrome
Advanced ossification of carpal bones, Recurrent otitis media OMIM:616831
Acrofrontofacionasal Dysostosis
Abnormal epiphysis morphology, Micromelia, Broad thumb, Camptodactyly of finger, Brachydactyly, S... ORPHA:1784
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, High palate, Low-set ears, Posteriorly rotated ears, Hepatosplenomegaly, Microcy... OMIM:619750
Fusariosis
Lung abscess, Panniculitis, Maculopapular exanthema, Abnormal retinal morphology, Arthritis, Myos... ORPHA:228119
Bacterial Toxic-Shock Syndrome
Myocarditis, Fasciitis, Pneumonia, Myositis, Arthritis, Abnormality of the upper limb, Skin rash,... ORPHA:36234
Muscle-Eye-Brain Disease
Optic atrophy, Meningocele, Hydrocephalus, Holoprosencephaly, Cataract, EEG abnormality ORPHA:588
Jacobsen Syndrome
Abnormal form of the vertebral bodies, Finger syndactyly, Scoliosis, Missing ribs, Eczematoid der... ORPHA:2308
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Microtia, Low-set ears, Ascites, Hepatosplenomegaly, Splenomegaly, Dysphagi... OMIM:608013
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Anemia, Hypoplastic iliac wing, S... ORPHA:2637
Arthrogryposis, Distal, Type 2A
Flexion contracture of toe, Spina bifida occulta, Shoulder flexion contracture, Elbow flexion con... OMIM:193700
Baraitser-Winter Syndrome 1
Microphthalmia, Sensorineural hearing impairment, Low-set ears, Aortic valve stenosis, Chorioreti... OMIM:243310
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Fetal Gaucher Disease
Hepatomegaly, Low-set, posteriorly rotated ears, Pancytopenia, High palate, Thrombocytopenia, Abn... ORPHA:85212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Encephalocele, Retinal detachment, Optic nerve hypoplasia, Mic... OMIM:614643
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Hypoplasia of penis, Microtia, Limitation of joint mobility, Camptod... ORPHA:2547
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocep... OMIM:616034
Nephronophthisis 9
Retinal degeneration, Anemia OMIM:613824
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Abnormally large globe, Hydrocephalus, Sensorineural hearing impairment, D... OMIM:239300
Mirage Syndrome
Anemia, Hypospadias, Gastroesophageal reflux, Radial club hand, Hydrocephalus, Microphallus, Hypo... OMIM:617053
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Multifocal epileptiform discharges, Ocular anterior segment dysgenesis, Bilateral microphthalmos,... ORPHA:369891
Doors Syndrome
Optic atrophy, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of t... ORPHA:79500
Aneurysm-Osteoarthritis Syndrome
Osteochondritis dissecans, Spondylolisthesis, Intervertebral disk degeneration, Knee osteoarthrit... ORPHA:284984
Holoprosencephaly
Microphthalmia, Hypoplasia of penis, Abnormal pinna morphology, Retinopathy, Joint hypermobility,... ORPHA:2162
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, Hearing impair... OMIM:620157
Duane-Radial Ray Syndrome
Microphthalmia, Anal stenosis, Aganglionic megacolon, Optic disc hypoplasia, Fused cervical verte... OMIM:607323
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal form of th... ORPHA:52
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia, Hydrocephalus, Dandy-Walker malformation, Dilated third ventric... OMIM:613154
Sturge-Weber Syndrome
Optic atrophy, Retinal detachment, Hyperostosis, Corneal dystrophy, Hydrocephalus, Heterochromia ... ORPHA:3205
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona... OMIM:214900
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Sensorineural hearing impairment, Flexion contracture, Hydrocephalus ORPHA:99947
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Hypospadias, Hydrocephalus, Microcornea, Hearing impairment, Abnormal heart morpho... OMIM:601499
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,... ORPHA:158029
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Chronic otitis media, Abnormal hip bone morphology, S... ORPHA:1507
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Meckel Syndrome, Type 3
Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Bile duct prolif... OMIM:607361
Gm1 Gangliosidosis Type 1
Beaking of vertebral bodies T12-L3, Platyspondyly, Spatulate ribs, Broad long bone diaphyses, Pec... ORPHA:79255
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma, Keratitis OMIM:148200
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Right atrial enlargement, Communi... OMIM:615219
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, Incre... ORPHA:98813
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Sp... ORPHA:169090
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting... ORPHA:83461
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Gastroesophageal reflux, Microcornea, High palate, Furrowed tongue, ... OMIM:616449
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Sensorineural hearing impairment, Megaloblastic anemia, Neurogenic bl... OMIM:222300
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Optic disc hypoplasia, Hydrocephalus, Low-set ears, Tracheoe... OMIM:300514
Brucellosis
Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Chorioretinitis... ORPHA:1304
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Biemond Syndrome Ii
Hydrocephalus, Iris coloboma OMIM:210350
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Gout, Neutropenia OMIM:617056
Alexander Disease
Hydrocephalus, Increased CSF protein concentration, Microcoria OMIM:203450
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Arthritis, Pericarditis, Splenomegaly, Juvenile rheumatoid arthritis ORPHA:85414
Cockayne Syndrome
Microphthalmia, Urinary incontinence, Elevated circulating hepatic transaminase concentration, Re... ORPHA:191
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Corneal opacity, High palate, Low-set ears, Hearing impairme... ORPHA:284160
Trisomy 1Q
Short thorax, Abnormal rib morphology, Arachnodactyly, Camptodactyly of finger, Microretrognathia... ORPHA:261344
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Single transverse palmar crease, Prominent sternum, Wrist flexion contracture, Camptodactyly, Pec... ORPHA:254528
Wiedemann-Steiner Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Recurrent otitis media, 2-3 toe syndactyly, Scolio... OMIM:605130
Waardenburg Syndrome Type 3
Tracheomalacia, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal b... ORPHA:896
Masa Syndrome
Hydrocephalus, Ventriculomegaly OMIM:303350
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... OMIM:610256
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Ectopic anus ORPHA:1643
Acro-Renal-Ocular Syndrome
Microphthalmia, Aganglionic megacolon, Radial club hand, Optic disc hypoplasia, Sensorineural hea... ORPHA:959
Bohring-Opitz Syndrome
Optic atrophy, Fixed elbow flexion, Joint dislocation, Metacarpophalangeal joint contracture, Ret... ORPHA:97297
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa... OMIM:606003
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Prominent fingertip pads, Camptodactyly, Broad thumb, Micrognathia, Mesomelia, Broad ... OMIM:618529
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Membranous subvalvular aortic stenosis, Synost... ORPHA:3191
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Precocious costochondral ossification, Increased urinary dis... OMIM:271630
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Astigmatism, Hypospadias, Gastroesophageal reflux, Unilateral renal ag... ORPHA:464311
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Vertebral segmentation defect, Syno... ORPHA:1005
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Aortic Aneurysm, Familial Thoracic 12
Arthritis, Scoliosis, Pectus excavatum OMIM:619825
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Astigmatism, Elevated circulating hepatic transaminase concentration, Sensorineural... OMIM:617713
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Spina bifida occulta, Pterygium, Fing... ORPHA:2990
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage... ORPHA:33226
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Finger syndactyly, Scoliosis, Split hand, Abnormal rib morphology, Joint sti... ORPHA:1300
Galactosialidosis
Visceromegaly, Conjunctival telangiectasia, Hearing impairment, Hepatosplenomegaly, Cherry red sp... OMIM:256540
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Protruding ear, Astigmatism, Microphthalmia, Low-set ears, Retinal coloboma, Cleft palate, Abnorm... OMIM:618571
Joubert Syndrome 14
Optic atrophy, Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformati... OMIM:614424
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c... OMIM:618052
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Colpocephaly, Lateral ventricle dilatation, Cardiomegaly, Narrow pal... OMIM:620371
Papa Syndrome
Myositis, Arthritis, Crohn's disease, Limitation of joint mobility, Pustule, Acne, Increased infl... ORPHA:69126
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Elevated circulating hepatic transaminase concentration, Chole... OMIM:614886
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Rachitic rosary, Hypophosphatemic rickets OMIM:612089
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis OMIM:616414
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Cirrhosis, Gastrointestinal infarctions, Jau... ORPHA:131
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Eczematoid dermatitis, Short pha... OMIM:600430
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ... ORPHA:54251
Marden-Walker Syndrome
High, narrow palate, Microphthalmia, Dextrocardia, Hypospadias, Dandy-Walker malformation, High p... OMIM:248700
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Nasofrontal encephalocele, Hydrocephalus, Band keratopathy, A... OMIM:614195
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrotia, Hydrocephalus OMIM:300886
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans... ORPHA:42
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials, Increased CSF lactate, Ventricular hypertrophy, Hypertroph... OMIM:619051
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Pneumonia, Reduced red cell adenosine deaminase level, B lymphocytop... OMIM:102700
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Enterocolit... ORPHA:2686
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Claw hand deformity, Sensorineural hearing impairment, Abnor... OMIM:601455
Mucolipidosis Type Iv
Retinopathy, EEG abnormality, Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cleft palat... OMIM:610125
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Arthritis, Hypochromic microcytic anemia, Osteomyelitis OMIM:619423
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy, Sensorineural hearing impairment OMIM:217400
Otodental Syndrome
Microphthalmia, Microcornea, Retinal coloboma, High-frequency sensorineural hearing impairment, L... ORPHA:2791
Warburg Micro Syndrome 4
Optic atrophy, Microphthalmia, Microcornea, Developmental cataract, Flexion contracture, Decrease... OMIM:615663
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Dislocated radial head, Optic atrophy, Hypoplasia of the radius, Elb... OMIM:122470
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Protruding ear, Unilateral renal agenesis, Corneal opacity, Low-set ears, Development... OMIM:616603
Microphthalmia, Syndromic 3
Butterfly vertebrae, Optic nerve hypoplasia, Hemivertebrae, Vertebral hypoplasia, Missing ribs, O... OMIM:206900
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Hypospadias ORPHA:141333
Agammaglobulinemia, X-Linked
Recurrent otitis media, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatiti... OMIM:300755
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca... ORPHA:615
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul... ORPHA:79124
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Meckel Syndrome, Type 2
Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Renal cyst, B... OMIM:603194
Nephroblastoma
Neoplasm of the liver, Hematuria, Lymphadenopathy, Aniridia ORPHA:654
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Hyperlordosis, Synostosis of carpal bones, Bro... ORPHA:710
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sensorineural hearing impairment, Cardiomyopath... OMIM:616084
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Abnormality of retinal pigmentation, Hydrocephalus ORPHA:397951
Monosomy 9Q22.3
Polydactyly, Palmar pits, Abnormality of the vertebral column, Metopic synostosis, Pectus excavat... ORPHA:77301
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Radial club hand, Hydrocephalus, Anal atresia, Renal hypoplasia, Abnormal he... OMIM:276950
Trisomy 10P
Gastroesophageal reflux, Rectovaginal fistula, Low voltage EEG, EEG with focal spikes, Dandy-Walk... ORPHA:171929
Fanconi Anemia, Complementation Group D2
Annular pancreas, Microphthalmia, Anemia, Esophageal atresia, Ectopic kidney, Pancytopenia, Hydro... OMIM:227646
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis... ORPHA:79456
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula... OMIM:603553
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Hearing impairment, Camptodactyly of finger, Developmental cataract, Cataract, Mi... OMIM:610756
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Clinodactyly of the 5th finger, Joint stiffness, Abnormal hemoglobin, Brac... ORPHA:847
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Lymphadenopathy OMIM:605258
Blau Syndrome
Abnormal optic nerve morphology, Retinopathy, Pericarditis, Splenomegaly, Stage 5 chronic kidney ... ORPHA:90340
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Hydrocephalus, Microtia, Low-set ears, Renal hypoplasia, Radioulnar synostosis, Cran... ORPHA:171839
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Spondylodysplastic Ehlers-Danlos Syndrome
Optic nerve hypoplasia, Corneal opacity, Pulmonic stenosis, Aortic valve stenosis, Generalized os... ORPHA:536471
Warburg Micro Syndrome 2
Optic atrophy, Microphthalmia, Undetectable visual evoked potentials, Microcornea, Macrotia, Deve... OMIM:614225
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt... ORPHA:699
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Ductal bile plugs, Elev... OMIM:613812
Rat-Bite Fever
Morbilliform rash, Myocarditis, Anemia, Pancreatitis, Arthritis, Skin rash, Erythema nodosum, Par... ORPHA:31205
Sandhoff Disease
Hepatomegaly, Urinary incontinence, Orthostatic hypotension, Increased urinary N-acetylglucosamin... OMIM:268800
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Gastroesophageal reflux, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Porphyria, Congenital Erythropoietic
Osteopenia, Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Increased fecal coproporphyrin 1, ... OMIM:263700
Brittle Cornea Syndrome 2
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Hearing impairment, Scleroc... OMIM:614170
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo... OMIM:146510
Blau Syndrome
Iritis, Flexion contracture of toe, Cystoid macular edema, Arthritis, Erythema nodosum, Synovitis... OMIM:186580
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Beck-Fahrner Syndrome
Protruding ear, Ventriculomegaly, High palate, Extra-axial cerebrospinal fluid accumulation, Card... OMIM:618798
Nephronophthisis 14
Retinal degeneration OMIM:614844
Q Fever
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans... ORPHA:781
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Vacuolated lymphocytes, Scoliosis, Kyphosis, Joint stiffness, Hypopl... OMIM:230500
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Elevated circulating hepatic transaminase conce... ORPHA:2137
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Camptodactyly of finger, Cleft palate, Corneal opacity ORPHA:1794
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis, Carpal synostosis ORPHA:2010
Pediatric Systemic Lupus Erythematosus
Malar rash, Arthritis, Skin rash, Discoid lupus rash, Lymphopenia, Myositis, Nephritis, Thrombocy... ORPHA:93552
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of t... OMIM:618914
Mosaic Trisomy 1
Microphthalmia, Penile hypospadias, Renal cortical cysts, Abnormal pinna morphology, Elbow flexio... ORPHA:1692
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hydrocephalus, Pelvic kidney, Dandy-Walker malformation, Hypoplasia of the iris, ... OMIM:613001
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Eczematoid dermatitis, Decreased proportion of CD4-positive helper T cells, Ly... OMIM:619510
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Rickets, Retinal pigment epithelial mottling OMIM:219900
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Hydrocephalus ORPHA:352682
Geleophysic Dysplasia 3
Limited elbow movement, Epiphyseal dysplasia, Limb undergrowth, Brachydactyly, Limited wrist move... OMIM:617809
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatomegaly, Abnormally large globe, Pancreatic lymphangiectasis, Hi... ORPHA:1655
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Joint hypermobility, Hydrocephalus OMIM:236660
Craniofaciofrontodigital Syndrome
Osteopenia, Bicuspid aortic valve, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal... ORPHA:363705
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hepatomegaly, Hypercalciuria, Elbow flexion contracture, Mucopolysacc... OMIM:618440
Limb Body Wall Complex
Ectopia cordis, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Abnormal intesti... ORPHA:2369
Trisomy 18
Narrow palate, Microphthalmia, Esophageal atresia, Low-set, posteriorly rotated ears, Anencephaly... ORPHA:3380
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Systemic Sclerosis
Myocarditis, Osteolytic defects of the phalanges of the hand, Arthritis, Pericarditis, Joint swel... ORPHA:90291
Edinburgh Malformation Syndrome
Hydrocephalus, Low-set ears, Joint stiffness, Aplasia/Hypoplasia affecting the eye, Brushfield spots ORPHA:1895
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase c... OMIM:615688
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Short Syndrome
Abnormal anterior chamber morphology, Sensorineural hearing impairment, Corneal opacity, Megaloco... ORPHA:3163
Pentalogy Of Cantrell
Hypospadias, Anencephaly, Encephalocele, Hydrocephalus, Abnormal pericardium morphology, Cleft pa... ORPHA:1335
1Q44 Microdeletion Syndrome
Optic disc hypoplasia, Hydrocephalus, Vesicoureteral reflux, High palate, Intestinal malrotation,... ORPHA:238769
Tetrasomy 9P
Abnormal chorioretinal morphology, Bilateral single transverse palmar creases, Sacral dimple, Cli... ORPHA:3310
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Barrel-shaped chest, Sandal gap, Hitchhiker thumb, Narrow c... OMIM:612651
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Hypertrop... OMIM:617303
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Hydrocephalus, Pyloric stenosis, Ventriculomegaly, Abnormal location of ears, Ventri... OMIM:218350
Leopard Syndrome 1
Kyphoscoliosis, Limited elbow movement, Cubitus valgus, Spina bifida occulta, Pectus carinatum, S... OMIM:151100
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Atrial septal defect, Osteopenia, Gastroesophageal reflux, Hydrocephalus, ... OMIM:115150
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Abnormal autonomic nervous system physio... ORPHA:85451
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Vertebral segm... ORPHA:3186
Celiac Disease, Susceptibility To, 1
Rickets, Iron deficiency anemia, Macrocytic anemia, Recurrent aphthous stomatitis, Stomatitis, Th... OMIM:212750
Mend Syndrome
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, High palate, Abnormal auditory evoked p... ORPHA:401973
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Cheilitis, Anemia, Periodontitis, Finger syndactyly, Esophagitis, Abnormal ... ORPHA:2908
Glycogen Storage Disease Ib
Pancreatitis, Osteoporosis, Inflammation of the large intestine, Splenomegaly, Gout, Lipemia reti... OMIM:232220
Atelis Syndrome 2
Protruding ear, Microphthalmia, Anemia, Gastroesophageal reflux, High palate, Low-set ears, Remna... OMIM:620185
Glutamine Deficiency, Congenital
Flexion contracture, Camptodactyly, Micromelia OMIM:610015
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Cardiospondylocarpofacial Syndrome
Short palm, Synostosis of carpal bones, Brachydactyly, Abnormal form of the vertebral bodies ORPHA:3238
Ellis Van Creveld Syndrome
Acute leukemia, Genu valgum, Cubitus valgus, Narrow chest, Short thorax, Synostosis of carpal bon... ORPHA:289
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Increased CSF protein concentr... OMIM:267700
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Hereditary Bullous Dystrophy, Macular Type
Cataract, Abnormal heart morphology, Corneal opacity ORPHA:1867
Basel-Vanagaite-Smirin-Yosef Syndrome
High, narrow palate, Microphthalmia, Hypospadias, Cholelithiasis, Microcornea, Male urethral meat... ORPHA:464738
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Slender long bone, Mandibular aplasia, Abnormal... ORPHA:2554
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Dextrocardia, Retinal dystrophy, Low-set, posteriorly rotated ears, Enceph... ORPHA:220493
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow... ORPHA:549
Degcags Syndrome
Microphthalmia, Sensorineural hearing impairment, Cholestasis, Abnormal spleen morphology, Pulmon... OMIM:619488
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro... OMIM:616217
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Ventriculomegaly, Aganglionic megacolon, High palate OMIM:304100
Familial Cold Urticaria
Arthritis, Conjunctivitis ORPHA:47045
Rheumatoid Arthritis
Polyarticular arthritis, Interphalangeal joint erosions, Rheumatoid arthritis, Joint stiffness, S... OMIM:180300
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Arthritis, Li... ORPHA:343
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Williams Syndrome
Chronic otitis media, Hypoplasia of penis, Sensorineural hearing impairment, Corneal opacity, Tra... ORPHA:904
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Hemolytic anemia, Reticulocytosis OMIM:232800
Sweet Syndrome
Abnormality of the hand, Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia... ORPHA:3243
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal cent... ORPHA:277
Dyrk1A-Related Intellectual Disability Syndrome
Astigmatism, Hypospadias, Gastroesophageal reflux, Unilateral renal agenesis, Multiple joint cont... ORPHA:464306
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Recurrent otitis media, Anemia, Gastritis, B lymphocytopenia, Arthritis, Decreased pro... OMIM:619381
Crouzon Syndrome
Optic atrophy, Lambdoidal craniosynostosis, Hydrocephalus, High palate, Coronal craniosynostosis,... OMIM:123500
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Short metatarsal, Increased bone mineral density, Short fifth metatarsal, B... ORPHA:79444
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Meckel Syndrome, Type 1
Occipital encephalocele, Microphthalmia, Anencephaly, Intestinal malrotation, Splenomegaly, Ventr... OMIM:249000
Omodysplasia 2
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... OMIM:164745
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Ulnar bowing, Pterygium, Absent palmar crease, Hypoplast... OMIM:263650
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Fractures of the long bones, Abnorm... ORPHA:464329
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatomegaly, Pancreatic lymphangiectasis, High palate, Ascites, Low-... OMIM:235255
Hunter-Macdonald Syndrome
Clinodactyly of the 5th finger, Cubitus valgus, Pectus carinatum, 2-3 toe syndactyly, Scoliosis, ... OMIM:611962
Moderate Hemophilia A
Arthropathy, Limitation of joint mobility, Synovitis, Hip contracture, Joint hemorrhage, Joint sw... ORPHA:169805
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Low-set ears, Hypoplasia of the iris, Hear... ORPHA:96125
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Arthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joint hy... ORPHA:85410
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Hepatomegaly, Renal tubular epithelial necrosis, Dicarboxylic aciduria, Rena... ORPHA:228308
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Talipes, Clinodactyly of the 5th finger, Short femur, Micrognathi... OMIM:300990
De Barsy Syndrome
Osteopenia, Corneal opacity, High palate, Abnormal fundus fluorescein angiography, Low-set ears, ... ORPHA:2962
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Acanthocytosis OMIM:200100
Frontofacionasal Dysplasia
Microphthalmia, Encephalocele, Microcornea, Cleft palate, Brushfield spots, Cataract, Limbal derm... ORPHA:1791
Chromosome 8Q21.11 Deletion Syndrome
Protruding ear, Microphthalmia, Sensorineural hearing impairment, High palate, Low-set ears, Camp... OMIM:614230
Fraser Syndrome 1
Abnormal middle ear morphology, Abnormal pinna morphology, Corneal opacity, Myelomeningocele, Abn... OMIM:219000
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Thor... OMIM:148050
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi... ORPHA:2879
Galloway-Mowat Syndrome 1
Optic atrophy, Microphthalmia, Ventriculomegaly, Dandy-Walker malformation, High palate, Low-set ... OMIM:251300
Chime Syndrome
Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Corneal opacity, Re... ORPHA:3474
Catastrophic Antiphospholipid Syndrome
Myocarditis, Retinal arterial occlusion, Arthritis, Thrombocytopenia, Coombs-positive hemolytic a... ORPHA:464343
Pseudotrisomy 13 Syndrome
11 pairs of ribs, 2-3 toe syndactyly, Hemivertebrae, Postaxial hand polydactyly, Postaxial foot p... OMIM:264480
Cryptococcosis
Cirrhosis, Mediastinal lymphadenopathy, Osteolysis, Abnormal cranial nerve morphology, Hydrocepha... ORPHA:1546
Fanconi Anemia, Complementation Group F
Microphthalmia, Anemia, Pelvic kidney, Microtia, Vesicoureteral reflux, Microphallus, Bone marrow... OMIM:603467
Familial Pancreatic Carcinoma
Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Intestinal ps... ORPHA:1333
Mucopolysaccharidosis, Type Iiid
Recurrent otitis media, Elbow flexion contracture, Broad palm, Epiphyseal dysplasia, Joint stiffn... OMIM:252940
Microphthalmia, Syndromic 8
Microcornea, Cleft palate, Microphthalmia OMIM:601349
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Anorectal anomaly, Tracheoesophageal f... ORPHA:1775
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly, Hepatic failure ORPHA:664
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... OMIM:603671
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Bicoronal synostosis, Hydrocephalus, Vesicoureteral reflux, Low-set ea... OMIM:619951
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Meningocele, Mi... ORPHA:46059
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Mild hearing impairment, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Enuresis, Campto... ORPHA:459061
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Abnormality of cartilage of external ear, Corneal opaci... ORPHA:2399
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin... OMIM:602347
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Low-set ears, Glycopeptiduria, Hearing impairment, Splenome... OMIM:230000
6P22 Microdeletion Syndrome
Hydrocephalus, Low-set ears, Hearing impairment, Hydronephrosis, Overfolded helix ORPHA:251046
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ... ORPHA:650
1P36 Deletion Syndrome
Optic atrophy, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis, Delayed c... ORPHA:1606
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Microphthalmia, Lenz Type
Microphthalmia, Hydroureter, Hypospadias, Low-set, posteriorly rotated ears, Microcornea, Abnorma... ORPHA:568
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Arthritis, Episodic hemolytic anemia, Reticulo... OMIM:210250
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Radial deviation of finger, Hypochromic microcytic anemia, Talipe... OMIM:301040
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, High, narrow palate, Mitral valve prolapse ORPHA:2183
Aceruloplasminemia
Retinal degeneration, Anemia OMIM:604290
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system,... ORPHA:2714
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Cantu Syndrome
Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric... OMIM:239850
Arteriosclerosis, Severe Juvenile
Central retinal vessel vascular tortuosity, Anemia, Dysplasia of second lumbar vertebra, Short ph... OMIM:208060
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Dandy-Walker malformation, High palate, Low-set ears, Camptodactyly, Pericardial e... OMIM:617822
Developmental And Epileptic Encephalopathy 89
Narrow chest, Scoliosis, Limb undergrowth, Flexion contracture, Microretrognathia, Talipes equino... OMIM:619124
Chikungunya
Periostitis, Maculopapular exanthema, Arthritis, Skin rash, Erythema nodosum, Synovitis, Joint st... ORPHA:324625
Acute Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prol... ORPHA:529799
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prol... ORPHA:529808
Insulin Autoimmune Syndrome
Arthralgia/arthritis ORPHA:411593
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a... OMIM:612260
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Flexion contracture of toe, Knee flexion contracture, Elbow flexion con... OMIM:610758
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:618541
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Unilambdoid synostosis OMIM:618577
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Wrist flexion contracture, Hydronep... OMIM:609465
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia, Retinal dysplasia OMIM:615665
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Hydrocephalus, Hypertrophic cardiomyopathy, Pulmonic stenosis,... ORPHA:2701
Cohen Syndrome
Optic atrophy, High, narrow palate, Iris coloboma, Neutropenia, Microphthalmia, Aplasia/Hypoplasi... ORPHA:193
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Intestinal malrotation, Bifid uvula, Colpocephaly, Splenomegaly, Hepat... OMIM:270400
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:614921
Cystinosis, Nephropathic
Rickets, Genu valgum, Hypophosphatemic rickets, Retinopathy, Rachitic rosary, Metaphyseal widenin... OMIM:219800
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbital encephalocele, Cleft palate OMIM:164180
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Arthritis, Parotitis, Increased B cell count, Cholestasis, Increa... OMIM:620376
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Abnormal gastrointestinal tract morphology, Low-set ears, Intestinal malrotation,... ORPHA:404440
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Extramedullary hematopoiesis, Giant cell hepatitis ORPHA:79303
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Joint hypermobility, Micrognathia, Persistence of hemoglobin F, Anterior concavity of thoracic ve... OMIM:617101
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Conjunctival hyperemia, Conjunctivitis, Hepatic amyloi... OMIM:142680
Braddock-Carey Syndrome 2
Microphthalmia, Hearing impairment, Atresia of the external auditory canal, Cleft palate, Thrombo... OMIM:619981
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Anemia, Retinal calcification, Increased bone mineral density, Papilledema, Devel... OMIM:127000
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Loeys-Dietz Syndrome 6
Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Knee osteoarthri... OMIM:619656
Sarcoidosis
Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal conjunct... ORPHA:797
21Q22.11Q22.12 Microdeletion Syndrome
Sacral dimple, Anemia, Recurrent otitis media, Cone-shaped epiphyses of the phalanges of the hand... ORPHA:261323
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Spontaneous hemolytic crises, Zonular cataract, Communicating hydrocephalus, Macrotia, ... ORPHA:168577
Microscopic Polyangiitis
Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Abnormal retinal vascu... ORPHA:727
Hyper-Igd Syndrome
Lymphadenopathy, Arthritis, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Spleno... OMIM:260920
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Ulnar bowing, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing ORPHA:1765
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj... OMIM:194380
Myopathy, Centronuclear, X-Linked
Elevated circulating hepatic transaminase concentration, Hydrocephalus, Dandy-Walker malformation... OMIM:310400
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Microphthalmia, Corneal dystrophy, Microcornea, Hearing impairment, Sclerocornea,... ORPHA:1806
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Atrial septal defect, Peters anomaly OMIM:614526
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Psoriasis 14, Pustular
Cholangitis, Polyarticular arthritis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform dermatiti... OMIM:614204
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Tapered finger OMIM:618367
1Q21.1 Microdeletion Syndrome
Microphthalmia, Iris coloboma, Hydrocephalus, Sensorineural hearing impairment, Vesicoureteral re... ORPHA:250989
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Narrow palate, Absent internal auditory canal, Corneal opacity, Profound sensorineural hearing im... OMIM:620469
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia, Simple ear, Bicuspid aortic va... OMIM:619318
Chromosome 15Q11.2 Deletion Syndrome
Short finger, Single transverse palmar crease, Slender finger, Arachnodactyly, Micrognathia, Join... OMIM:615656
Common Variable Immunodeficiency
Chronic otitis media, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, A... ORPHA:1572
Hereditary Spherocytosis
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Sphero... ORPHA:822
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C... ORPHA:171
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Microphthalmia, Pathologic fracture, Retinal calcification, Vitreoretinopathy, Exudat... OMIM:259770
Acalvaria
Hydrocephalus, Cleft palate, Holoprosencephaly, Spina bifida ORPHA:945
8P11.2 Deletion Syndrome
Retinal dystrophy, Hypoplasia of penis, Microcornea, Spherocytosis, High palate, Abnormal pinna m... ORPHA:251066
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Schinzel-Giedion Syndrome
Kyphoscoliosis, Stiff elbow, Tibial bowing, Short distal phalanx of finger, Overlapping toe, Abno... ORPHA:798
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko... ORPHA:83313
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic trans... OMIM:235555
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Recurrent fractures, Corneal opacity, Hyperphosphaturia, Ho... OMIM:163200
Baraitser-Winter Syndrome 2
Hearing impairment, Ventriculomegaly, Abnormal pinna morphology, Microphthalmia OMIM:614583
Proboscis Lateralis
Microphthalmia, Unilateral renal agenesis, Anophthalmia, Optic nerve hypoplasia, Microcornea, Hig... ORPHA:141099
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Flexion contracture, Splenomegaly OMIM:619183
Chédiak-Higashi Syndrome
Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ... ORPHA:167
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Hypospadias, Hydrocephalus, Low-set ears, Cleft palate, Abnormal ... ORPHA:2075
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Short femur, Short humerus ORPHA:17
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Microtia, Corneal opacity, Keratitis, Posteriorly rotated ears, Conjuncti... OMIM:602562
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Enlarged kidney, Elevated circulating hepatic transaminase concentra... OMIM:276700
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Craniosynostosis ORPHA:380
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Narrow palate, Thickened helices, Aplasia/Hypoplasia of the earlobes, Hydrocephalu... ORPHA:1555
Chops Syndrome
Optic atrophy, High, narrow palate, Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, Tra... OMIM:616368
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microphthalmia, Hypospadias, Anencephaly, Encephalocele, Dandy-Walker ... OMIM:619148
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ectopic kidney, Tracheomalacia, Hydrocephalus, Microtia, Tracheoesophageal fistul... ORPHA:268249
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating hepatic transamina... ORPHA:394
Pseudohypoparathyroidism Type 1A
Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Increased bone mineral dens... ORPHA:79443
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Macrotia OMIM:613576
Cerebrotendinous Xanthomatosis
Cholelithiasis, Delayed somatosensory central conduction time, Elevated CSF cholestanol concentra... OMIM:213700
Glycogen Storage Disease Ia
Lipemia retinalis, Pancreatitis, Osteoporosis, Gout OMIM:232200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Esophageal a... OMIM:314390
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malformation, Low-set ears... OMIM:257300
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Gastritis, Neutropenia, Iron deficiency anemia, Lymphadenopathy, Red... ORPHA:37042
Severe Hemophilia A
Anemia, Limitation of joint mobility, Synovitis, Joint hemorrhage, Limb joint contracture, Joint ... ORPHA:169802
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Low-set, posteriorly rotated ears, Retinal dystrophy, Encephalocele, Hydro... ORPHA:2318
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Osteomyelitis, Splen... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Osteomyelitis, Splen... OMIM:233710
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Adams-Oliver Syndrome 5
Patent foramen ovale, Esophageal varix, Right atrial enlargement, Portal vein thrombosis, Pulmoni... OMIM:616028
Diaphragmatic Hernia 4, With Cardiovascular Defects
Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, Optic nerve hypoplasia, 2-3 ... OMIM:620025
Trisomy 8P
Abnormal middle ear morphology, Aplasia/Hypoplasia of the tragus, Bifid uvula, Nephrocalcinosis, ... ORPHA:264450
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Osteopenia, Gastroesophageal reflux, High palate, Renal artery stenosis, Renal hyp... OMIM:617913
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate OMIM:600251
Mietens Syndrome
Microcornea, Corneal opacity, Joint stiffness, Sclerocornea, Elbow ankylosis, Cataract ORPHA:2557
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Vacterl With Hydrocephalus
Aqueductal stenosis, Microphthalmia, Esophageal atresia, Anophthalmia, Hydrocephalus, Microcornea... ORPHA:3412
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Painless fractures due to injury, Low back pain, Osteoarthritis, Septic arthritis, R... OMIM:608654
Primary Biliary Cholangitis
Gastrointestinal inflammation, Steatorrhea, Jaundice, Cirrhosis, Abnormal intrahepatic bile duct ... ORPHA:186
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Normochromic anemia, Micrognathia, Thrombocytopenia, Horizontal ribs, Neutrop... OMIM:614857
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Aceruloplasminemia
Hypochromic microcytic anemia, Macular degeneration, Abnormality of retinal pigmentation, Retinal... ORPHA:48818
Congenital Hereditary Endothelial Dystrophy Type Ii
Sensorineural hearing impairment, Corneal stromal edema, Corneal opacity, Abnormal Descemet membr... ORPHA:293603
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Craniofacial hyperostosis, Bone cyst, Corneal opacity, Retinopathy, Aor... ORPHA:2396
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Sensorineural hearing impairm... OMIM:610651
Treacher-Collins Syndrome
Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Encephalocele, Abnormality of bone min... ORPHA:861
Dowling-Degos Disease
Arthritis, Abnormality of the hand, Palmar pits, Acne inversa ORPHA:79145
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Gaucher Disease Type 3
Hepatomegaly, Anemia, Hematuria, Pancytopenia, Increased bone mineral density, Abnormal heart val... ORPHA:77261
Yao Syndrome
Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si... OMIM:617321
Microphthalmia, Syndromic 2
Microphthalmia, Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Bifid... OMIM:300166
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Osteomyelitis, Splen... OMIM:233690
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Temple Syndrome
Recurrent otitis media, Hydrocephalus, High palate, Bifid uvula, Cleft palate, Flexion contractur... OMIM:616222
Rabin-Pappas Syndrome
Retinal telangiectasia, Tracheomalacia, Retinal detachment, Optic nerve hypoplasia, Sensorineural... OMIM:620155
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly... ORPHA:3261
Curry-Jones Syndrome
Microphthalmia, Anal stenosis, Unicoronal synostosis, Intestinal pseudo-obstruction, Bicoronal sy... OMIM:601707
Agel Amyloidosis
Keratoconjunctivitis sicca, Corneal ulceration, Abnormal spleen morphology, Cardiomyopathy, Facia... ORPHA:85448
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Limited elbow extension, Genu valgum, Recurrent otitis media, Broad long bone diaphyses, Hyperlor... OMIM:301066
Lowe Oculocerebrorenal Syndrome
Rickets, Joint contracture of the hand, Wrist swelling, Genu valgum, Platyspondyly, Pathologic fr... OMIM:309000
Marfan Syndrome
Osteopenia, Limited elbow movement, Reduced bone mineral density, Spondylolisthesis, Retinal deta... ORPHA:558
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Decreased proportion of me... OMIM:618394
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Osteopenia, Non-caseating epithelioid cell granulomatosis, Macr... ORPHA:227990
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta, Optic disc coloboma, Opacification of the corneal stroma, I... OMIM:169550
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas... ORPHA:79240
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Splenomegaly, Hypoglycorrhachia, Cataract, Stomatocytosis, Nuclear catara... OMIM:608885
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Retinal degeneration OMIM:616896
Marfan Syndrome
Limited elbow extension, Kyphoscoliosis, Hammertoe, Spondylolisthesis, Retinal detachment, Pectus... OMIM:154700
Apert Syndrome
Optic atrophy, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Vertebral segmentation defect,... ORPHA:87
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Immunodeficiency 87 And Autoimmunity
Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Jaundice, Cleft pa... OMIM:619573
Tenorio Syndrome
Osteopenia, Gastroesophageal reflux, Hydrocephalus, Enuresis, Joint hypermobility, Ventriculomega... OMIM:616260
Scrub Typhus
Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy, Acanthocytosis OMIM:615558
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Talipes, Clinodactyly of the 5th finger, Short hallux, Short 5th finger, Shor... ORPHA:508488
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Abnormal pinna morphology, Corneal opacity, Wrist flexion contracture, Biliary tr... OMIM:268300
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnant... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Peters anomaly, Encephalocele, Hydrocephalus, Persistent pupillary membrane, Cong... OMIM:613150
Czeizel-Losonci Syndrome
Hypoplastic helices, Dextrocardia, Congenital megaureter, Low-set, posteriorly rotated ears, Hydr... ORPHA:2437
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Nephrocalcinosis, Atrop... OMIM:240300
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Low-set, posteriorly rotated ears, Anencephaly, Encephalocele, Meningocel... ORPHA:1908
Vacterl/Vater Association
Abnormal intervertebral disk morphology, Finger syndactyly, Vertebral segmentation defect, Abnorm... ORPHA:887
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Osteopetrosis, Diaphyseal sclerosis, Hydrocephalus, Dandy-Walker malformation, Inc... OMIM:618476
Lead Poisoning
Abnormal T cell morphology, Cranial hyperostosis, Anemia, Skin rash, Imbalanced hemoglobin synthe... ORPHA:330015
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Arthritis, Skin rash, Leukocytosis, Pericarditis, Conjunctivitis, Erysipelas, Splenomeg... ORPHA:32960
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Macular coloboma, Ketonuria, Jaundice, Hemolytic-uremic syndrome, Renal insufficie... ORPHA:79282
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Anemia, Hypospadias, Joint hypermobility, Low-set, posteriorly ro... ORPHA:235
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Kyphosis, Back pain, Sacroiliac arthritis, Inflammation of the large intestin... OMIM:106300
Smith-Lemli-Opitz Syndrome
Abnormality of the gallbladder, Hypoplasia of penis, Sensorineural hearing impairment, Ventriculo... ORPHA:818
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Anemia, Pancreatitis, Periodontitis, Thyroiditis, Chronic neutropenia, Osteoporosis, ... ORPHA:79259
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myositis, Arthritis, Skin rash, Sinusitis, Endocarditis, Eosinophilia, Increased inf... ORPHA:183
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Situs inversus totalis, Asplenia, Communicating hydrocephalus, Conductive h... OMIM:244400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Gastroesophageal reflux, Sensorineu... OMIM:616975
Loeys-Dietz Syndrome 3
Osteopenia, Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Spon... OMIM:613795
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Micromelia, Short neck, Craniosynostosis, Polysplenia OMIM:200995
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Hydrocephalus, Microcornea, C... OMIM:175780
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Hip dislocation, Sacral dimple, Accessory spleen... OMIM:194190
Stevenson-Carey Syndrome
Microphthalmia, Gastroesophageal reflux, Low-set ears, Camptodactyly, Posteriorly rotated ears, A... OMIM:611961
Multiple Myeloma
Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Functional abnormality of the gastroint... ORPHA:29073
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Meckel Syndrome 14
Occipital encephalocele, Microphthalmia, Polycystic kidney dysplasia, Low-set ears, Decreased cal... OMIM:619879
Pettigrew Syndrome
Optic atrophy, Aqueductal stenosis, Calvarial osteosclerosis, Hydrocephalus, Sensorineural hearin... OMIM:304340
Optic Pathway Glioma
Optic atrophy, Papilledema, Hydrocephalus ORPHA:2086
Lyme Disease
Joint swelling, Arthritis, Infectious encephalitis, Uveitis ORPHA:91546
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Joint hypermobility, Delayed epiphyseal ossification, Hypsarrhythmia, Sensorineural h... OMIM:616007
Bartsocas-Papas Syndrome
Popliteal pterygium, Cleft palate, Corneal opacity, Synostosis of joints ORPHA:1234
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... OMIM:263200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Microphthalmia, Retinal dystrophy, Hydrocephalus, Cataract, Buphthalmos, Ventriculomegaly OMIM:616538
Ileal Neuroendocrine Tumor
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Lymphadenopathy,... ORPHA:100078
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... OMIM:254450
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Tracheoesophageal fistula, Pyloric sten... ORPHA:379
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Macrotia OMIM:600776
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Osteopenia, Astigmatism, Anemia, Pancytopenia, Focal segmental glomer... OMIM:242900
Aymé-Gripp Syndrome
Ventriculomegaly, Hydrocephalus, Sensorineural hearing impairment, Microtia, Limitation of joint ... ORPHA:1272
Shwachman-Diamond Syndrome 2
Normocytic anemia, Metaphyseal widening, Thrombocytopenia, Anterior rib cupping, Metaphyseal irre... OMIM:617941
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Macrotia, High palate OMIM:300558
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, High, narrow palate, Dysplastic pulmonary valve, Hydrocephalus, Right ventr... OMIM:612863
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Conjunctival icterus, Ascites, Right ... ORPHA:57777
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Low-set ears, Patchy osteosclerosis, Bifid uvula, Posteriorly rotated ears, Ventr... OMIM:241410
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Sensorineural hearing impairment, Pulmonic stenosis, Leukopenia, Splenomegaly, ... OMIM:612541
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation, High palate, Low-set ears, Camptodactyly, Hydronephrosi... OMIM:614846
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Williams-Beuren Region Duplication Syndrome
Chronic otitis media, Unilateral renal agenesis, Hydrocephalus, High palate, Hydronephrosis, Vent... OMIM:609757
Ring Chromosome 10 Syndrome
Microphthalmia, Aganglionic megacolon, Abnormal antihelix morphology, Low-set ears, Large earlobe ORPHA:1438
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Joubert Syndrome 2
Microphthalmia, Nephronophthisis, Retinal dystrophy, Encephalocele, Hydrocephalus, High palate, L... OMIM:608091
Peters Plus Syndrome
Ureteral duplication, Corneal opacity, Pulmonic stenosis, Ventriculomegaly, Anterior chamber syne... ORPHA:709
Hec Syndrome
Cardiomyopathy, Communicating hydrocephalus, Developmental cataract, Abnormal retinal vascular mo... ORPHA:2119
Autoimmune Polyendocrine Syndrome, Type Ii
Steatorrhea, Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia,... OMIM:269200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary... OMIM:619534
Scedosporiosis
Pneumonia, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Osteomy... ORPHA:449280
17Q12 Microduplication Syndrome
Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Microphthalmia ORPHA:261272
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias, Gastroesophageal reflux, Horseshoe kidney, High palate, Low-set ears... ORPHA:65286
Norrie Disease
Microphthalmia, Aplasia/Hypoplasia of the lens, Sensorineural hearing impairment, Corneal opacity... ORPHA:649
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microphthalmia, Microcornea, Macrotia, Ventricular septal defect, Keratoconjunctiv... OMIM:234050
Lateral Meningocele Syndrome
Meningocele, Hydrocephalus, Neurogenic bladder, High palate, Low-set ears, Abnormality of the mid... OMIM:130720
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Gastritis, Atrial septal defect, Polycystic kidne... ORPHA:84064
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Sensorineural hearing impairment, Cardiomyopathy, Abnormal autonomic nervou... OMIM:105210
Noonan Syndrome 1
Kyphoscoliosis, Juvenile myelomonocytic leukemia, Radial deviation of finger, Pectus excavatum of... OMIM:163950
Heart And Brain Malformation Syndrome
High, narrow palate, Microphthalmia, Gastroesophageal reflux, Attached earlobe, Dandy-Walker malf... OMIM:616920
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus OMIM:615599
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Microtia, Ocular albinism, Anal atresia, Anteriorly placed anus, Cupped ear, Abno... ORPHA:1352
Neurofibromatosis Type 1
Osteopenia, Neoplasm of the gastrointestinal tract, Hydrocephalus, Corneal opacity, Heterochromia... ORPHA:636
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Kikuchi-Fujimoto Disease
Myocarditis, Abnormality of the gastrointestinal tract, Neutropenia, Hepatomegaly, Anemia, Lympha... ORPHA:50918
Shigellosis
Myocarditis, Acute colitis, Arthritis, Splenic abscess, Leukocytosis, Conjunctivitis, Thrombocyto... ORPHA:810
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence, Decreased nerve conduction velocity, Optic nerve hypoplasia, Sensorineural ... ORPHA:101085
Simpson-Golabi-Behmel Syndrome
Clinodactyly of the 5th finger, Short 2nd finger, Finger syndactyly, Scoliosis, Vertebral segment... ORPHA:373
Fanconi Anemia, Complementation Group L
Microphthalmia, Anemia, Esophageal atresia, Unilateral renal agenesis, Hydrocephalus, Microtia, L... OMIM:614083
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Pelvic ki... OMIM:601186
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren... OMIM:255120
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Robinow Syndrome, Autosomal Dominant 1
Radial deviation of finger, Rhizomelia, Sacral dimple, Duplication of the distal phalanx of hand,... OMIM:180700
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Keratoconjunctiv... ORPHA:2907
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Osteopenia, Non-caseating epithelioid cell granulomatosis, Macr... ORPHA:227982
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Hydrocephalus, Knee flexion contracture, Ventriculomegaly, Atrial septal ... OMIM:603387
Generalized Pustular Psoriasis
Cheilitis, Arthritis, Leukocytosis, Palmoplantar pustulosis, Pustule, Lymphopenia, Erythroderma, ... ORPHA:247353
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Renal cyst, Bile duct proliferation, Cleft ... OMIM:611561
Frontorhiny
Microphthalmia, Low-set, posteriorly rotated ears, Encephalocele, Camptodactyly of finger, Bifid ... ORPHA:391474
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukop... OMIM:618986
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Scoliosis, Camptodactyly, Kyphosis, Broad thumb, Short phalanx of finger, Microgna... OMIM:616894
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Low-set, posteriorly rotated ears, Hydrocephalus, Anal... ORPHA:59315
Hydrolethalus
Microphthalmia, Low-set, posteriorly rotated ears, Anencephaly, Anophthalmia, Hydrocephalus, Low-... ORPHA:2189
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormality of somatosensory evoked potentials, Sensorineural hearing im... ORPHA:99027
Classical Ehlers-Danlos Syndrome
Osteopenia, Generalized joint hypermobility, Dislocated radial head, Shoulder dislocation, Scolio... ORPHA:287
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Hennekam Syndrome
Lymphadenopathy, Ectopic kidney, Abnormal pinna morphology, Low-set ears, Ascites, Pyloric stenos... ORPHA:2136
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Monosomy 18P
Microphthalmia, Abnormal antihelix morphology, Macrotia, Cleft palate, Holoprosencephaly, Protrud... ORPHA:1598
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hy... ORPHA:729
Charge Syndrome
Microphthalmia, Abnormal pinna morphology, Microtia, Tracheoesophageal fistula, Dysphagia, Abnorm... ORPHA:138
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Punctate keratitis, Spleno... OMIM:617388
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Spondyloocular Syndrome
Osteopenia, Duodenal ulcer, Posterior subcapsular cataract, Femur fracture, Retinal detachment, S... OMIM:605822
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Fanconi Anemia, Complementation Group C
Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hearing impairment, Bone... OMIM:227645
Autosomal Dominant Robinow Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Finger synd... ORPHA:3107
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis ORPHA:99812
Myoclonic-Astatic Epilepsy
Microphthalmia, EEG with polyspike wave complexes, Interictal epileptiform activity, EEG with irr... ORPHA:1942
Short Stature, Microcephaly, And Endocrine Dysfunction
Limb undergrowth, Anemia, Clinodactyly, Lymphopenia OMIM:616541
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus ORPHA:1827
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Iron deficiency anemia, Osteoporosis, Osteomalacia, Keratoconjunctivitis sicca, Colitis ORPHA:309031
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly OMIM:617967
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Antisynthetase Syndrome
Myocarditis, Joint dislocation, Myositis, Arthritis, Skin rash, Keratoconjunctivitis sicca ORPHA:81
Marfanoid-Progeroid-Lipodystrophy Syndrome
High, narrow palate, Hydrocephalus, Hyperextensibility of the finger joints, Lateral ventricular ... OMIM:616914
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column OMIM:601076
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Hydrocephalus, Communicating hydrocephalus, Coronal cra... OMIM:112240
Floating-Harbor Syndrome
Kyphoscoliosis, 11 pairs of ribs, Dislocated radial head, Short clavicles, Short metacarpal, Shor... ORPHA:2044
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Anemia, Severe periodontitis, Leukocytosis, Neutrophilia, Limb undergrowt... ORPHA:99843
Melioidosis
Lung abscess, Pneumonia, Liver abscess, Prostatitis, Foot osteomyelitis, Acute infectious pneumon... ORPHA:31202
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Enlarged kidney, Hydrocephalus, Cardiomyopathy, Ascites, Cataract, Hyp... OMIM:261740
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Conductive hearing impairment, Hydrocephalus ORPHA:93262
Charge Syndrome
Mixed hearing impairment, Microphthalmia, Sensorineural hearing impairment, Microtia, Tracheoesop... OMIM:214800
Chromosome 1P36 Deletion Syndrome, Distal
Optic atrophy, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Wide anterior fontan... OMIM:607872
Cerebrooculonasal Syndrome
Narrow palate, Encephalocele, Anophthalmia, Hydrocephalus, Optic nerve hypoplasia, Dandy-Walker m... OMIM:605627
Alexander Disease Type I
Hydrocephalus, Dysphagia ORPHA:363717
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenome... ORPHA:731
Rheumatic Fever
Myocarditis, Arthritis, Sinusitis, Pericarditis, Endocarditis ORPHA:3099
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Familial Mediterranean Fever
Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Lymphadenopathy, Arthritis, A... ORPHA:342
Alagille Syndrome 1
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:118450
Listeriosis
Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Stiff neck, Splenic abscess, B... ORPHA:533
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Protruding tongue, Aortic valve stenosis, Macrotia, M... ORPHA:324410
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Recurrent otitis media, Cholangitis, Arthritis, Skin rash, Chronic gastritis, Atop... ORPHA:183675
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:300972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Ventriculomegaly, Hydrocephalus, R... OMIM:253280
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias, Low-set, posteriorly rotated ears, Microcornea, Abnormal pinna morph... ORPHA:2505
Peho Syndrome
Optic atrophy, Hypsarrhythmia, Hydrocephalus, Abnormal pinna morphology, Limitation of joint mobi... ORPHA:2836
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation, Abnormal pinna morphology, Cleft palate, Flexion contra... OMIM:147800
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Microphthalmia, Microcornea, High palate, Zonular cataract, Osteoporosis, Under... OMIM:268400
Myhre Syndrome
Short finger, Radial deviation of finger, Enlarged vertebral pedicles, Hypoplastic iliac wing, 2-... OMIM:139210
7Q11.23 Microduplication Syndrome
Chronic otitis media, Abnormal earlobe morphology, Abnormal optic disc morphology, Aortic valve s... ORPHA:96121
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn... ORPHA:791
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Protruding ear, Gastroesophageal reflux, Hydrocephalus, High palate, Joint hypermobility OMIM:612940
Lymphangioleiomyomatosis
Optic atrophy, Retinal hamartoma, Gastrointestinal hemorrhage, Hematuria, Lymphadenopathy, Chylop... ORPHA:538
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hydrocephalus OMIM:618302
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Ankle clonus ORPHA:284289
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Ascites, Lymphadenitis, Osteomyelit... OMIM:306400
Pseudoxanthoma Elasticum, Forme Fruste
Angioid streaks of the fundus, Macular degeneration, Scoliosis, Abnormal sternum morphology, Kyph... OMIM:177850
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Scoliosis, Pectus excava... OMIM:613658
Kagami-Ogata Syndrome
Kyphoscoliosis, Bell-shaped thorax, Limitation of joint mobility, Coat hanger sign of ribs, Micro... ORPHA:254519
Traboulsi Syndrome
Microphthalmia, Spherophakia, Homocystinuria, Joint hypermobility, Phakodonesis, High palate, Iri... OMIM:601552
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Protruding ear, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal deta... ORPHA:2526
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Mixed hearing impairment, Tracheomalacia, Hydrocephalus, Microcornea, High palate, Lo... ORPHA:536467
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract, Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Phace Syndrome
Retinal vascular malformation, Microphthalmia, Abnormal cardiac septum morphology, Optic nerve hy... ORPHA:42775
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu... ORPHA:139402
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Thymic Neuroendocrine Tumor
Osteopenia, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, C... ORPHA:97289
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Hydrocephalus, Low-set ears, High palate, Congenital contracture, Colpocepha... OMIM:620156
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Abnormal T cell count, Enteroviral hepa... OMIM:307200
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Angioid ... ORPHA:51608
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Patent foramen ovale, Corneal opacity, Right atrial enlargement, Pericardial effusion, Myocardial... OMIM:620519
Hutchinson-Gilford Progeria Syndrome
Reduced bone mineral density, Short clavicles, Osteolytic defects of the distal phalanges of the ... ORPHA:740
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Microtia, High palate, Low-set ears, Cleft palate, Holoprosencephaly, Ventriculom... OMIM:612530
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Arthrogryposis multiplex congenita, Hearing impairment... OMIM:618143
Joubert Syndrome
Situs inversus totalis, Aganglionic megacolon, Encephalocele, Hydrocephalus, Low-set ears, Iris c... ORPHA:475
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, L... OMIM:607597
Rodrigues Blindness
Protruding ear, Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Klatskin Tumor
Hepatomegaly, Jaundice, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Protruding ear, Microphthalmia, Microcornea, Macrotia, Flexion contractur... OMIM:601675
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality, Urinary incontinence... ORPHA:206448
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus, Low-set ears, Anal atresia, Asplenia, Cleft palate, Urethral atres... OMIM:273395
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Optic atrophy, Osteopenia, Hydrocephalus, High palate, Low-set ears, Posteriorly rotated ears, Jo... OMIM:618590
Gomez-Lopez-Hernandez Syndrome
Craniosynostosis, Low-set ears, High palate, Posteriorly rotated ears, Opacification of the corne... OMIM:601853
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Neutropenia, Recurrent otitis media, Gastroesophage... OMIM:608233
Fanconi Anemia, Complementation Group E
Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hearing impairment, Abno... OMIM:600901
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Glycogen Storage Disease Ii
Urinary incontinence, Hepatomegaly, Hearing impairment, Splenomegaly, Cardiomegaly, Macroglossia OMIM:232300
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Hydrocephalus, Renal cyst, Bile duct proliferation, Cleft p... OMIM:612284
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Hyd... ORPHA:220497
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Cleft palate, High palate ORPHA:1135
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Joint hypermobility, High, narrow palate, Hydrocephalus ORPHA:2181
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Primary Sjögren Syndrome
Normocytic anemia, Normochromic anemia, Chronic active hepatitis, Arteritis, Optic neuritis, Arth... ORPHA:289390
Behçet Disease
Gastrointestinal hemorrhage, Pancreatitis, Lymphadenopathy, Renal insufficiency, Optic neuritis, ... ORPHA:117
Neurocardiofaciodigital Syndrome
Double inlet left ventricle, Vesicoureteral reflux, High palate, Hearing impairment, Dilated four... OMIM:619869
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathi... OMIM:277400
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomyopathy, C... OMIM:619259
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Microtia, Cholestasis, Ventricular ... OMIM:222470
Oculodentodigital Dysplasia
Microphthalmia, Vertebral hyperostosis, Joint contracture of the 5th finger, Microcornea, Neuroge... OMIM:164200
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microphthalmia, Microtia, Prolonged neonatal jaundice, Bifid uvula, Apl... OMIM:620186
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Hydrocephalus, Sensorineural hearing impairmen... ORPHA:637
Lymphangiectasia, Intestinal
Prominent floating ribs, Lymphopenia OMIM:152800
Middle Ear Neuroendocrine Tumor
Unilateral conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Chronic... ORPHA:100084
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Recurrent otitis media, Gastroesophageal reflux, Hilar... OMIM:620233
Opitz-Kaveggia Syndrome
Narrow palate, Anal stenosis, Hypospadias, Hydrocephalus, Sensorineural hearing impairment, Anal ... OMIM:305450
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia, Lymphadenopathy ORPHA:2221
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Reactive Arthritis
Recurrent aphthous stomatitis, Arthritis, Joint stiffness, Pericarditis, Pustule, Inflammation of... ORPHA:29207
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Sensorineural hearing impairment, Dandy-Walker malformation, Hypertrophic cardiomy... OMIM:612938
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus, Cleft palate, Abnormal mast cell morphology ORPHA:398189
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Arthritis, Skin rash, Ch... OMIM:301074
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin... OMIM:251880
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Thymoma
Aplastic anemia, Myositis, Rheumatoid arthritis, Pure red cell aplasia, Imbalanced hemoglobin syn... ORPHA:99867
Aicardi-Goutières Syndrome
Developmental glaucoma, Elevated circulating hepatic transaminase concentration, Chronic lymphati... ORPHA:51
Immunodeficiency 27B
Salmonella osteomyelitis, Generalized lymphadenopathy, Osteomyelitis OMIM:615978
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Flexion c... OMIM:256040
Monosomy 18Q
Pulmonary valve defects, Dysplastic pulmonary valve, Sensorineural hearing impairment, Hydrocepha... ORPHA:1600
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Wagro Syndrome
Aniridia, Corneal opacity, Low-set ears, Proteinuria, Cataract OMIM:612469
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Joint contracture OMIM:616881
Wiedemann-Rautenstrauch Syndrome
Kyphoscoliosis, Atlantoaxial abnormality, Short humerus, Hypoplastic vertebral bodies, Joint hype... ORPHA:3455
Fanconi Anemia, Complementation Group A
Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hearing impairment, Abno... OMIM:227650
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... ORPHA:86843
Houge-Janssens Syndrome 2
Joint hypermobility, Ventriculomegaly, Unilateral renal agenesis, Hydrocephalus OMIM:616362
Phace Association
Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Dandy-Walker malformation, Developmental c... OMIM:606519
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Hydrocephalus, Myoglobinuria, Polycystic kidney ... ORPHA:157
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Craniosynostosis, Smooth tongue, Corneal opacity, Ventriculomegaly ORPHA:79396
Monosomy 9P
Bilateral single transverse palmar creases, Proximal placement of thumb, Abnormality of the verte... ORPHA:261112
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Cardiofaciocutaneous Syndrome
Optic atrophy, Atrial septal defect, Abnormality of the gastrointestinal tract, Low-set, posterio... ORPHA:1340
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Narrow palate, Limited elbow extension, Hypospadias, Hydrocephalus, High palate, A... OMIM:123790
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Reynolds Syndrome
Arthritis, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca ORPHA:779
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Broad finger, Short phalanx of finger, Abnormal hand morphology, Small hand OMIM:300845
15Q Overgrowth Syndrome
Congenital stationary night blindness, High, narrow palate, Mixed hearing impairment, Low-set, po... ORPHA:314585
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... ORPHA:98974
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Multiple bladder diverticula, Recurrent otitis media, Microtia, Hearing impairmen... ORPHA:2728
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the radius, Abnormal thumb morphology, Finger syndactyly, Arthritis, Scoliosis, Ker... ORPHA:2363
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Progressive hearing impairment, Acute monocytic leukemia, Leukocytosis, Hy... ORPHA:514
Polymyositis
Arthritis, Pericarditis, Chondrocalcinosis ORPHA:732
Hepatoerythropoietic Porphyria
Osteopenia, Red urine, Corneal ulceration, Purple urine, Red-brown urine, Keratoconjunctivitis, O... ORPHA:95159
3Mc Syndrome 3
Penoscrotal hypospadias, Abnormal pinna morphology, Corneal opacity, Auricular pit, Hearing impai... OMIM:248340
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Fanconi Anemia, Complementation Group S
Narrow palate, Microphthalmia, Anemia OMIM:617883
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Autosomal Dominant Cutis Laxa
Osteopenia, Protruding ear, Unilateral renal agenesis, Corneal opacity, Low-set ears, Development... ORPHA:90348
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
High, narrow palate, Recurrent otitis media, Anterior polar cataract, Renal tubular acidosis, Hyd... OMIM:619575
Adiposis Dolorosa
Arthritis, Recurrent skin infections ORPHA:36397
Zttk Syndrome
Optic atrophy, Scoliosis, Hemivertebrae, Kyphosis, Rib fusion, Flexion contracture, Cervical ribs... OMIM:617140
Giant Cell Arteritis
Optic atrophy, Joint stiffness, Arthritis, Pericarditis ORPHA:397
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hearing impairment, Anemia OMIM:618838
Senior-Loken Syndrome 8
Polydactyly, Rod-cone dystrophy, Macular atrophy, Retinal dystrophy OMIM:616307
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Coronal craniosynostosis, Microphthalmia, Low-set ears, Encephalocele ORPHA:228390
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Mucoepithelial Dysplasia, Hereditary
Corneal neovascularization, Hematuria, Melena, Keratoconjunctivitis, Furrowed tongue, Hearing imp... OMIM:158310
Fanconi Anemia, Complementation Group N
Aplastic anemia, Microphthalmia, Acute myeloid leukemia, Ectopic kidney, Unilateral renal agenesi... OMIM:610832
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Prolonged neonatal jaundice, Splenomegal... OMIM:619525
Fraser Syndrome 2
Microphthalmia, Unilateral renal agenesis, Low-set ears, Hypoplasia of the thymus, Anal atresia, ... OMIM:617666
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia, Low-set, posteriorly rotated ears, Communicatin... ORPHA:1237
Dyskeratosis Congenita, X-Linked
Optic atrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Pterygium, P... OMIM:305000
Neurooculorenal Syndrome
Aqueductal stenosis, Mixed hearing impairment, Dextrocardia, Tetralogy of Fallot with pulmonary s... OMIM:620305
Carcinoid Syndrome
Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, S... ORPHA:100093
2Q31.1 Microdeletion Syndrome
Microphthalmia, Low-set ears, Camptodactyly of finger, Cleft palate, Optic disc coloboma, Ventric... ORPHA:251014
Temple Syndrome
Hydrocephalus, Bifid uvula ORPHA:254516
Houge-Janssens Syndrome 1
Pyloric stenosis, Ventriculomegaly, Hydrocephalus OMIM:616355
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Abnormal earlobe morphology, Large intestinal polyposis, S... ORPHA:116
Late-Onset Retinal Degeneration
Drusen, Choroidal neovascularization, Patchy atrophy of the retinal pigment epithelium, Macular d... ORPHA:67042
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Vestibular areflexia, Hypochromic microcytic anemia, Absent brainstem auditory ... ORPHA:3240
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocyti... ORPHA:77293
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Tracheomalacia, Hydrocephalus, Limitation of joint mobility, High palate, An... ORPHA:93259
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Hypospadias, Low-set, posteriorly rotated ears, Hypoplasia of penis, Encephalocel... ORPHA:2166
Aicardi-Goutieres Syndrome 7
Hematemesis, Hepatomegaly, Anemia, Pancytopenia, Arthritis, Hypertrophic cardiomyopathy, Hepatiti... OMIM:615846
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Dysphagia, Lymphadenopathy ORPHA:1332
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti... ORPHA:100080
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Dysphagia, Tracheoesophageal fistula ORPHA:142
Incontinentia Pigmenti
Optic atrophy, Microphthalmia, Retinal detachment, Retinal vascular proliferation, Leukocytosis, ... OMIM:308300
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos... ORPHA:293173
Dubowitz Syndrome
Aplastic anemia, Microphthalmia, Hypospadias, Gastroesophageal reflux, High palate, Megalocornea,... OMIM:223370
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Cleft soft palate, Retinal dystrophy, Hydrocephalus, Optic nerve hypoplasia, Leuko... OMIM:619321
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Pterygium, Hydrocephalus, Dandy-Walker malformation, Hydranencephaly, Joint contracture, Cleft pa... OMIM:225790
Desmosterolosis
Hydrocephalus, Low-set ears, Total anomalous pulmonary venous return, Cleft palate, Posteriorly r... OMIM:602398
Hydrolethalus Syndrome 1
Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi... OMIM:236680
Marshall-Smith Syndrome
Large sternal ossification centers, Ventriculomegaly, Hydrocephalus, Optic nerve hypoplasia, Bila... OMIM:602535
Marden-Walker Syndrome
Joint stiffness, Bifid uvula, Hypospadias, Hydrocephalus, Cleft palate, Posteriorly rotated ears,... ORPHA:2461
Cerebral Visual Impairment
Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Increased cup-to-disc ratio, Retinopathy of... ORPHA:447788
Autosomal Dominant Dopa-Responsive Dystonia
Paresis of extensor muscles of the big toe, Scoliosis, Rheumatoid arthritis, Progressive flexion ... ORPHA:98808
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos, Lateral ventricle dilatation ORPHA:77299
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Camurati-Engelmann Disease
Optic atrophy, Hepatomegaly, Anemia, Optic nerve compression, Hyperostosis, Limitation of joint m... ORPHA:1328
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Neuroendocrine Tumor Of Stomach
Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Iron ... ORPHA:100075
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity, Flexion contracture OMIM:614594
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Ventricular septal hypertrophy, Sensorineural hearing impairment, Exaggerated med... OMIM:608670
Spastic Paraplegia 9A, Autosomal Dominant
Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology OMIM:601162
Oculopalatocerebral Syndrome
Microphthalmia, Cleft palate, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Gastroesophageal reflux, Optic nerve hypoplasia, Corneal dystrophy, Dandy-Walker mal... ORPHA:495875
Pontocerebellar Hypoplasia, Type 7
Optic atrophy, Hydrocephalus, High palate, Low-set ears, Macrotia, Ventriculomegaly, Micropenis OMIM:614969
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Small earlobe, Corneal opacity, Hearing impairment, Cleft palate, Microglossia ORPHA:364577
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Osteomalacia, Hemolytic anemia, Increased susceptibility t... ORPHA:18
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Dandy-Walker malformation, Microcornea, High palate, Low-set ears, Cleft palate, ... OMIM:156610
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix... ORPHA:309854
Mednik Syndrome
Cirrhosis, Sensorineural hearing impairment, Cholestasis, Microcolon, Volvulus, Cataract, Hepatic... OMIM:609313
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Melkersson-Rosenthal Syndrome
Lymphadenopathy, Facial palsy, Furrowed tongue, Abnormal autonomic nervous system physiology, Mac... ORPHA:2483
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr... OMIM:620565
Fixed Subaortic Stenosis
Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ... ORPHA:3092
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Cleft palate, Anencephaly OMIM:614120
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Astigmatism, Ectopia pupillae, Cataract OMIM:618727
Kabuki Syndrome
Protruding ear, Hypospadias, Hypoplasia of penis, Hydrocephalus, Sensorineural hearing impairment... ORPHA:2322
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu... ORPHA:520
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Joint hypermobility, Bicuspid aorti... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Joint hypermobility, Bicuspid aorti... ORPHA:363958
Digeorge Syndrome
Bifid uvula, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, Truncus arteriosus, Pos... OMIM:188400
Glutaric Acidemia I
Glutaric aciduria, Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation, Ketonuria OMIM:231670
Fetal Alcohol Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Joint stiffness, Cleft palate, Atrial septal d... ORPHA:1915
Seckel Syndrome 2
Microphthalmia, Hypospadias, Ectopic kidney, Microglossia OMIM:606744
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Pancreatitis, Chondrocalcinosis OMIM:600740
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Vater/Vacterl Association
Hypoplasia of the radius, Preaxial polydactyly, Abnormal vertebral morphology, Triphalangeal thum... OMIM:192350
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus OMIM:616521
Combined Oxidative Phosphorylation Deficiency 59
Retinal degeneration OMIM:620646
Gray Platelet Syndrome
Myelofibrosis, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr... ORPHA:308552
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Aganglionic megacolon ORPHA:275543
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti... ORPHA:100082
Okamoto Syndrome
Urinary incontinence, Intestinal malrotation, Abnormal mitral valve morphology, Aortic valve sten... ORPHA:2729
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Sensorineural hearing impairment, Heterochromia iridis, Micr... ORPHA:163746
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology, Tinnitus ORPHA:73256
Neural Tube Defects, Susceptibility To
Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele OMIM:182940
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Tapered toe, Rib fusion, Tapered finger ORPHA:544488
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Bilateral microphthalmos, Hypospadias, Unilateral renal agenesis, Low-... ORPHA:468631
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Anemia, Calvarial osteosclerosis, Retinal calcification, Decreased skul... ORPHA:93325
Orofaciodigital Syndrome I
Hydrocephalus, Polycystic kidney dysplasia, High palate, Tongue nodules, Ankyloglossia, Low-set e... OMIM:311200
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia, Low-set ears, Cupped ear OMIM:167730
Isotretinoin-Like Syndrome
Gastroesophageal reflux, Aplasia/Hypoplasia of the inner ear, Abnormal cardiac ventricle morpholo... ORPHA:2306
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Relapsing Polychondritis
Myocarditis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Arthritis, Limit... ORPHA:728
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Optic atrophy, Joint hypermobility, Ventriculomegaly, Hydrocephalus ORPHA:60040
Fanconi Anemia, Complementation Group U
Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra... OMIM:617247
Spondyloepiphyseal Dysplasia, Maroteaux Type
Mucopolysacchariduria, Opacification of the corneal stroma, Generalized osteoporosis, Small joint... OMIM:184095
Nephronophthisis 11
Retinal degeneration, Anemia OMIM:613550
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Leptospirosis
Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Chorioretinitis, Ma... ORPHA:509
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Familial Mediterranean Fever
Arthritis, Crohn's disease, Leukocytosis, Pericarditis, Erysipelas, Neutrophilia, Splenomegaly, O... OMIM:249100
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Hydrocephalus, Hyperextensibility of the finger joints, Microtia, Cleft pala... ORPHA:163979
Systemic Lupus Erythematosus
Cheilitis, Malar rash, Arthritis, Discoid lupus rash, Retinopathy, Thrombocytopenia, Leukopenia, ... ORPHA:536
Lymphoid Interstitial Pneumonia
Skin rash, Clubbing, Eczematoid dermatitis, Rheumatoid arthritis, Bronchiectasis, Keratoconjuncti... ORPHA:79128
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Arthritis, Viral hepatitis, Pericarditis, Nephritis, Membranoprolifer... ORPHA:91139
Galloway-Mowat Syndrome 3
Microphthalmia, Glomerular sclerosis, High palate, Low-set ears, Camptodactyly, Nephrotic syndrom... OMIM:617729
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the wrist, Keratoconjunctivitis sicca, Joint dislocation, Scoliosis, Wormian bones... ORPHA:285
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Crimean-Congo Hemorrhagic Fever
Hematemesis, Ascites, Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Jaundice, Stiff neck,... ORPHA:99827
Yunis-Varon Syndrome
Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, De... OMIM:216340
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate, Low-set ears, Posteriorly rotated ears OMIM:613456
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Neuroblastoma
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemia, Lymphadenop... ORPHA:635
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated circulating hepatic transaminase concentration, Bicuspid aortic valve, Joint hypermobili... OMIM:619475
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Conductive hearing impairment, Astigmatism, Sclerocornea ORPHA:2095
Mend Syndrome
Anterior polar cataract, Hydrocephalus, Dandy-Walker malformation, High palate, Low-set ears, Aor... OMIM:300960
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Retinitis Pigmentosa 23
Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e... OMIM:300424
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Functioning Gonadotropic Adenoma
Osteopenia, Hydrocephalus, Ascites, Osteoporosis, Enlarged polycystic ovaries ORPHA:91348
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Urinary incontinence, Sensorineural hearing impairment, Iris atrophy, Pulmonic st... ORPHA:261552
Lenz-Majewski Hyperostotic Dwarfism
Epispadias, Cranial hyperostosis, High, narrow palate, Osteopetrosis, Abnormal cortical bone morp... ORPHA:2658
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Short metatarsal, Sandal gap, Broad 2nd toe, Hallux valgus, Scoli... OMIM:601358
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Moebius Syndrome
Corneal opacity, High palate, Facial palsy, Hearing impairment, Cleft palate, Dysphagia, Aplasia/... ORPHA:570
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Urinary incontinence, Sensorineural hearing impairment, Pulmonic stenosis, Aortic... ORPHA:261537
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Abnorm... ORPHA:363417
Nance-Horan Syndrome
Microphthalmia, Microcornea, Macrotia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Thakker-Donnai Syndrome
Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Anal ... ORPHA:1780
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Hydrocephalus, Abnormal pinna morphology, Camptodactyly, Coronal cra... OMIM:207410
Familial Tumoral Calcinosis
Hyperostosis, Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Histiocytoid cardiomyopathy, Sclerocornea, Lateral ventricle dilatation, Dilated ... OMIM:300952
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Leukocytosis, Left ventricular hypertrophy ORPHA:90065
Zimmermann-Laband Syndrome 1
Hepatomegaly, Gastroesophageal reflux, Long penis, Spina bifida occulta, Hyperextensibility of th... OMIM:135500
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Congenital Myopathy 22A, Classic
Normal pressure hydrocephalus, High palate, Congenital finger flexion contractures, Osteoporosis,... OMIM:620351
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Sclerocornea, Ectopia pupillae, Cataract OMIM:615877
Branchiooculofacial Syndrome
Microphthalmia, Sensorineural hearing impairment, Microtia, Malrotation of colon, Ectopic thymus ... OMIM:113620
Behcet Syndrome
Iritis, Arthritis, Chorioretinitis, Epididymitis, Iridocyclitis, Erythema nodosum OMIM:109650
Neuroocular Syndrome
Microphthalmia, Short uvula, Hyperextensibility of the finger joints, Microcornea, Stellate iris,... OMIM:619539
Epithelial Recurrent Erosion Dystrophy
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... ORPHA:293381
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Osteoporosis, Elevated circulating alanine aminotransf... ORPHA:365
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Recurrent otitis media, Scoliosis, Short foot, Fusio... OMIM:157800
Mowat-Wilson Syndrome
Microphthalmia, Urinary incontinence, Sensorineural hearing impairment, Aortic valve stenosis, Pu... ORPHA:2152
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Limited elbow movement, Limited knee flexion/extension, Pollakisuria, Brachial plexus neuropathy,... ORPHA:268
Holoprosencephaly 14
Aqueductal stenosis, Subependymal cysts, Aortic valve atresia, Hydrocephalus, Dandy-Walker malfor... OMIM:619895
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Retinoblastoma, Patent foramen ovale, High palate, Low-set ears, Anteverted ears,... OMIM:613884
Cone-Rod Dystrophy 2
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... OMIM:120970
Renpenning Syndrome 1
Situs inversus totalis, Protruding ear, Microphthalmia, Hypospadias, Phimosis, High palate, Anal ... OMIM:309500
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Sprengel anoma... ORPHA:1394
Acromegaly
Macrodactyly, Cortical diaphyseal thickening of the upper limbs, Deep palmar crease, Kyphosis, Sp... ORPHA:963
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Hydrocephalus, Dilated third ventricle, Hearing impairment, Flexion cont... ORPHA:500055
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... ORPHA:449395
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Insensitivity To Pain, Congenital, With Anhidrosis
Recurrent corneal erosions, Postural hypotension with compensatory tachycardia, Corneal ulceratio... OMIM:256800
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Microcornea, Persistent pupillary membrane, Low-set ears, Cataract, Large earlobe OMIM:257850
Complement Factor I Deficiency
Recurrent otitis media, Recurrent sinusitis, Septic arthritis, Recurrent skin infections, Pyelone... OMIM:610984
Schisis Association
Micromelia ORPHA:63862
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Recurrent fractures, Osteop... OMIM:222700
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, ... ORPHA:83471
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Loeys-Dietz Syndrome 1
Spondylolisthesis, Abnormal sternum morphology, Scoliosis, Pectus carinatum, Postaxial hand polyd... OMIM:609192
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Anemia, Hydrocephalus, Bone cyst, Calcification of the auricular cartilage, Conductive hearing im... ORPHA:3042
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Protruding ear, Microphthalmia, Joint contracture of the 5th finger, Low-set ears, Cleft palate, ... OMIM:620098
Mowat-Wilson Syndrome
Microphthalmia, Pulmonic stenosis, Abnormal heart morphology, Abnormal enteric ganglion morpholog... OMIM:235730
Radial Aplasia, X-Linked
Hydrocephalus, Penile hypospadias, Anal atresia OMIM:312190
Thyroid Lymphoma
Lymphadenopathy, Dysphagia ORPHA:97285
Kabuki Syndrome 1
Intestinal malrotation, Lateral ventricle dilatation, Joint hypermobility, Hydrocephalus, Hearing... OMIM:147920
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Ureteral duplication, Pulmonic stenosis, Biliary tr... OMIM:261540
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Gout ORPHA:411543
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Plasminogen Deficiency, Type I
Duodenal ulcer, Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Nephritis, Conjunctivi... OMIM:217090
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Pterygium, Finger syndactyly, Calcaneovalgus defo... OMIM:256520
Townes-Brocks Syndrome
Microphthalmia, Ectopic kidney, Hypoplasia of penis, Abnormal pinna morphology, Microtia, Urethra... ORPHA:857
Coronary Arterial Fistula
Bicuspid aortic valve, Atrial septal defect, Bacterial endocarditis, Patent foramen ovale, Aortic... ORPHA:2041
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Oeis Complex
11 pairs of ribs, Hemivertebrae, Congenital hip dislocation, Sacral segmentation defect, Absence ... OMIM:258040
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Craniosynostosis And Dental Anomalies
Chronic otitis media, Lambdoidal craniosynostosis, 2-3 toe syndactyly, Prominent metopic ridge, C... OMIM:614188
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptod... ORPHA:2753
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Microphthalmia, Sensorineural hearing impairment, Keratitis, Conjunct... OMIM:278730
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contractur... OMIM:620232
C Syndrome
Bilateral single transverse palmar creases, Sacral dimple, Clinodactyly of the 5th finger, Joint ... ORPHA:1308
Alexander Disease
Osteopenia, Aqueductal stenosis, Hydrocephalus, High palate, Abnormal autonomic nervous system ph... ORPHA:58
Mucolipidosis Iii Gamma
Claw hand deformity, Shoulder contracture, Finger joint contracture, Aortic valve stenosis, Mucop... OMIM:252605
Teebi-Shaltout Syndrome
High, narrow palate, Hypoplastic helices, Microphthalmia, Small earlobe, Low-set ears, Camptodact... OMIM:272950
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Dysphagia OMIM:207950
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Somatomammotropinoma
Macrodactyly, Cortical diaphyseal thickening of the upper limbs, Deep palmar crease, Kyphosis, Sp... ORPHA:314769
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Elevated circulating hepatic transaminas... OMIM:269700
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Optic nerve hypoplasia, Sensorineural hearing impairment, High pal... ORPHA:300570
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Dysphagia, Bicuspid aortic valve, Cardiomegaly, Ventric... OMIM:300855
Costello Syndrome
Limited elbow movement, Lymphangiectasis, Tracheomalacia, Hydrocephalus, Hyperextensibility of th... OMIM:218040
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Macrotia, Ventriculomegaly, EEG abnormality OMIM:617281
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus OMIM:222748
Infantile Nephropathic Cystinosis
Rickets, Pigmentary retinopathy ORPHA:411629
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Joint stiffness, Aqueductal stenosis, Holoprosencephaly, Hydrocephalus ORPHA:2182
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Hereditary Xanthinuria
Rheumatoid arthritis, Arthropathy, Gout ORPHA:3467
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma, Papilledema OMIM:260500
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Icf Syndrome
Anemia, Low-set ears, Protruding tongue, Communicating hydrocephalus, Lymphopenia, Abnormality of... ORPHA:2268
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Leber Congenital Amaurosis 15
Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat... OMIM:613843
Pfeiffer Syndrome
Hydrocephalus, High palate, Coronal craniosynostosis, Humeroradial synostosis, Elbow ankylosis OMIM:101600
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Hydrocephalus, Lateral ventricle dilatation, Ventriculomega... OMIM:602200
Dural Sinus Malformation
Hydrocephalus, Chemosis, Papilledema, Pulsatile tinnitus, Myelopathy ORPHA:97339
Pyoderma Gangrenosum
Myositis, Rheumatoid arthritis, Inflammation of the large intestine, Pustule, Myeloid leukemia ORPHA:48104
Immunoglobulin A Vasculitis
Optic atrophy, Arthritis, Skin rash, Episcleritis, Pustule, Orchitis, Infectious encephalitis ORPHA:761
Hereditary Sensory And Autonomic Neuropathy Type 4
Neuropathic arthropathy, Abnormality of lower limb joint, Anemia, Abnormal hip bone morphology, A... ORPHA:642
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Momo Syndrome
Bilateral microphthalmos, Abnormal bone ossification, High palate, Underfolded helix, Chorioretin... ORPHA:2563
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Lipemia retinalis, Colitis OMIM:615947
Granular Corneal Dystrophy Type Ii
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... ORPHA:98963
Autosomal Recessive Spastic Paraplegia Type 11
Scoliosis, Retinal degeneration ORPHA:2822
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Midgut malrotation, Chroni... ORPHA:100079
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Cleft palate, Tetralogy of Fallot... OMIM:153400
Kawasaki Disease
Myocarditis, Cervical lymphadenopathy, Jaundice, Glossitis, Abnormal heart valve morphology, Arth... ORPHA:2331
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Aqueductal stenosis, Retinal dystrophy, Hydrocephalus, Sensorineural hearing impai... OMIM:619512
Holoprosencephaly 7
Semilobar holoprosencephaly, Microphthalmia, Bilateral microphthalmos, Alobar holoprosencephaly, ... OMIM:610828
Igg4-Related Ophthalmic Disease
Abnormality of infra-orbital nerve, Pancreatitis, Cholangitis, Lymphadenopathy, Sialadenitis, Abn... ORPHA:449563
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intesti... OMIM:617718
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Pure red cell aplasia, Hashimoto thyroiditis, Hepatitis, Hemolyti... ORPHA:589
Ohdo Syndrome, X-Linked
Microphthalmia, Microtia, High palate, Low-set ears, Hearing impairment, Posteriorly rotated ears... OMIM:300895
Plague
Hematemesis, Mydriasis, Hepatomegaly, Glossitis, Arthritis, Lymphadenitis, Hearing impairment, In... ORPHA:707
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Marburg Hemorrhagic Fever
Pancreatitis, Neutrophilia in presence of infection, Arthritis, Abnormal lymphocyte morphology, S... ORPHA:99826
Hemangioblastoma
Hydrocephalus, Neurogenic bladder, Retinal capillary hemangioma ORPHA:252054
Idiopathic Camptocormia
Abnormal intervertebral disk morphology, Myelitis, Myositis, Spinal canal stenosis, Osteoarthriti... ORPHA:1320
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Ureteral agenesis, Renal hypoplasia OMIM:617914
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Pallister-Killian Syndrome
Kyphoscoliosis, Hip dislocation, Sacral dimple, Rhizomelia, Postaxial hand polydactyly, Short pal... OMIM:601803
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He... ORPHA:97287
Cornelia De Lange Syndrome
Bilateral single transverse palmar creases, Short 1st metacarpal, Proximal placement of thumb, Cl... ORPHA:199
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Microphthalmia, Syndromic 6
Microphthalmia, Lambdoidal craniosynostosis, Retinal dystrophy, Anophthalmia, Microcornea, High p... OMIM:607932
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Chromosome 14Q11-Q22 Deletion Syndrome
Optic atrophy, Hip subluxation, Prominent metopic ridge, Micrognathia, Mesomelia OMIM:613457
Monosomy 13Q14
Protruding ear, Abnormality of the gastrointestinal tract, Microphthalmia, Retinoblastoma, Low-se... ORPHA:1587
Hypomagnesemia 3, Renal
Rickets, Genu valgum, Bowing of the legs, Short metacarpal OMIM:248250
Deafness, X-Linked 7
Hearing impairment, Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral ... OMIM:301018
Postinfectious Vasculitis
Gastrointestinal inflammation, Arthritis, Bacterial endocarditis, Viral hepatitis, Retinal vascul... ORPHA:48435
Granular Corneal Dystrophy Type I
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... ORPHA:98962
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia, Spinal dysraphism, Splenomegaly, Cranial hyperostosis OMIM:612918
Arachnoiditis
Hearing impairment, Tinnitus, Hydrocephalus, Urinary bladder sphincter dysfunction ORPHA:137817
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Anal canal adenocarcinom... ORPHA:424016
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Mitra... OMIM:618874
Melanosis, Neurocutaneous
Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma OMIM:249400
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Unilateral renal agenesis, Abnormal antihelix morphology, Hydrocephalus... ORPHA:261337
Arachnoid Cyst
Mydriasis, Urinary incontinence, Encephalocele, Hydrocephalus, Facial palsy, Cranial nerve compre... ORPHA:2356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Optic nerve dysplasia, Occipital encephalocele, Anencephaly, Multicystic kidney dysplasia, Retina... OMIM:615287
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate OMIM:614402
Townes-Brocks Syndrome 1
Sensorineural hearing impairment, Microtia, Tracheoesophageal fistula, Urethral valve, Lop ear, H... OMIM:107480
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cystic angiomat... OMIM:608594
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Kyphoscoliosis, Cervical ribs, Hyperextensible hand joints, Slender long bone, Opt... ORPHA:500150
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, EEG abnormality ORPHA:1946
Intellectual Developmental Disorder, Autosomal Dominant 65
Low-set ears, Macrotia, Posteriorly rotated ears, Noncommunicating hydrocephalus OMIM:619320
Pseudoxanthoma Elasticum
Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr... OMIM:264800
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Microtia, Cleft palate, Anotia, Conotruncal defect OMIM:243440
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Tubulointerstitial nephritis, Gout OMIM:174000
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Chromosome 17P13.1 Deletion Syndrome
High, narrow palate, Hydrocephalus, Elbow flexion contracture, High palate, Spina bifida, Posteri... OMIM:613776
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Dandy-Walker malformation, Ves... OMIM:130650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Recurrent otitis media, Impaired lymphocyte transformation with phytohema... OMIM:600802
African Trypanosomiasis
Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Iritis, Urinary incontinence, Optic neuriti... ORPHA:3385
47,Xyy Syndrome
Congenital stationary night blindness, Hypospadias, Hydrocephalus, Low-set ears, Micropenis ORPHA:8
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamine lev... ORPHA:653
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, Abnormal helix morphology, Cardiomyopathy, Camptodactyly of toe, Cleft... ORPHA:158687
Medulloblastoma
Elevated circulating hepatic transaminase concentration, Abnormal cranial nerve morphology, Hydro... ORPHA:616
Frontonasal Dysplasia 2
Craniosynostosis, Microphthalmia, Low-set ears, Encephalocele OMIM:613451
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility ORPHA:399180
Aprosencephaly And Cerebellar Dysgenesis
Talipes equinovarus, Craniosynostosis, Micrognathia, Retinal dysplasia OMIM:601374
Congenital Tracheomalacia
Esophageal atresia, Gastroesophageal reflux, Tracheomalacia, Tracheobronchomalacia, Tracheoesopha... ORPHA:95430
Juvenile Dermatomyositis
Myositis, Arthritis, Skin rash, Limitation of joint mobility, Pericarditis ORPHA:93672
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Xeroderma Pigmentosum
Optic atrophy, Craniofacial hyperostosis, Pterygium, Sensorineural hearing impairment, Conjunctiv... ORPHA:910
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Dihydropyrimidine Dehydrogenase Deficiency
Deep palmar crease, Micromelia, Epiphyseal dysplasia, Short neck, Macular hypoplasia ORPHA:1675
Macular Corneal Dystrophy
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... ORPHA:98969
Fontaine Progeroid Syndrome
High, narrow palate, Microphthalmia, Gastroesophageal reflux, Hydrocephalus, Low-set ears, Protru... OMIM:612289
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Hydrocephalus, Low-set ears, Cleft palate, Ventriculomegaly ORPHA:1812
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Riddle Syndrome
Arthritis, Recurrent sinusitis, Recurrent pneumonia, Otitis media, Pneumonia, Chronic sinusitis ORPHA:420741
Lymphatic Filariasis
Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Knee osteoarthritis, Abnormal... ORPHA:2035
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Keratoconjunctivitis sicca, Optic nerve compression, Lymphade... ORPHA:79078
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Cherubism
Narrow palate, Marcus Gunn pupil, Optic neuropathy, Macular scar, Submandibular lymph node enlarg... OMIM:118400
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Neurogenic bladder, Abnormality of the lymphatic system, Abnormal heart morphology ORPHA:137667
Pontine Tegmental Cap Dysplasia
Ankle clonus, Scoliosis, Hemivertebrae, Rib fusion OMIM:614688
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Bifid uvula, Cleft palate, Cataract, Submucous... ORPHA:2250
Tetrasomy 5P
Low-set ears, Hydrocephalus, High palate, Posteriorly rotated ears ORPHA:3309
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Subependymal nodules, Retinal hemorrhage, Communicating hydrocephalus, Dysphag... ORPHA:25
Carney Triad
Gastrointestinal hemorrhage, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites, Gastr... ORPHA:139411
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Renal artery stenosis, Cardiomegaly, Ankylosis, Dilated cardiomyopathy OMIM:208000
Insulin-Resistance Syndrome Type B
Skin rash, Nephritis, Thrombocytopenia, Leukopenia, Osteoarthritis, Pneumonia ORPHA:2298
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pneumonia, Pancreatitis, Acute colitis, Leukocytosis, Thrombocytopenia, Septic arthr... ORPHA:544482
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Mixed hearing impairment, Microphthalmia, Iris atrophy, Cleft palate OMIM:201180
Solitary Median Maxillary Central Incisor
Microphthalmia, Holoprosencephaly, Anophthalmia OMIM:147250
Microphthalmia, Syndromic 1
Microphthalmia, Abnormal pinna morphology, Bicuspid aortic valve, Aganglionic megacolon, Hypospad... OMIM:309800
Holoprosencephaly 2
Semilobar holoprosencephaly, Microphthalmia, Single ventricle, Alobar holoprosencephaly, Bilatera... OMIM:157170
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Corneopalpebral synechiae, Anophthalmia, Anteriorly placed anus OMIM:248450
Linear Nevus Sebaceus Syndrome
Microphthalmia, Dandy-Walker malformation, Ventriculomegaly, EEG abnormality, Iris coloboma ORPHA:2612
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Hydrocephalus, Perineal fistula, Anal atresia, Rectal atresia ORPHA:3016
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Ureteral triplication, Low-set ears, High palate, Hydronephrosis, Mitral valve pro... OMIM:104350
Pallister-Hall Syndrome
Mesoaxial polydactyly, Oligodactyly, Broad thumb, Polydactyly affecting the 3rd finger, Overlappi... ORPHA:672
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Camptodactyly of finger, Conductive hearing im... ORPHA:306542
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Bronchiectasis, Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Hemophilia A
Joint hemorrhage, Osteoarthritis OMIM:306700
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Protruding ear, Hydrocephalus, Bone cyst, Patent foramen ovale, High palate, Hypertrophic cardiom... ORPHA:363700
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Hypospadias, Microtia, Microcornea, Low-set ears, Ureterocele, Uplifted earlobe, ... OMIM:616734
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Short hard palate, Optic nerve hypoplasia, Bilateral cleft palate, ... OMIM:610829
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Loeys-Dietz Syndrome 2
Joint hypermobility, Hydrocephalus, Patent foramen ovale, Bicuspid pulmonary valve, Osteoporosis,... OMIM:610168
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Perimembranous ventricular septal defect, Transposition of the great arter... OMIM:612474
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Reynolds Syndrome
Gastrointestinal hemorrhage, Steatorrhea, Jaundice, Hepatomegaly, Elevated circulating hepatic tr... OMIM:613471
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Abnormal earlobe morphology, High palate, Cardiomegaly, Joint hypermobility, Ventri... ORPHA:96191
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Pancreatitis, Chondrocalcinosis ORPHA:405
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Retinal degeneration, Acanthocytosis, Pigmentary retinopathy OMIM:234200
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Ventricular septal defect, Renal insufficiency, Renal corticomed... OMIM:219730
Iniencephaly
Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Low-set ears, Anal atresia,... ORPHA:63259
Acrofacial Dysostosis, Cincinnati Type
Cleft anterior mitral valve leaflet, Tracheobronchomalacia, Microtia, Dysphagia, Bicuspid aortic ... OMIM:616462
Oculoectodermal Syndrome
Astigmatism, Chorioretinal atrophy, Microcornea, Hypertrophic cardiomyopathy, Bladder exstrophy, ... OMIM:600268
Malakoplakia
Hematuria, Neoplasm of the rectum, Dysuria, Urinary hesitancy, Urinary urgency, Neoplasm of the c... ORPHA:556
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card... OMIM:620066
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocephalus, Microtia, Low-set ears, Ventriculomegaly OMIM:613603
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Abnormal pancreas morphology, Cholangitis, Lymphadenopathy, S... ORPHA:449432
Dermochondrocorneal Dystrophy
Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract, Irregular tarsal ... OMIM:221800
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin ORPHA:79099
Hemophilia B
Joint hemorrhage, Osteoarthritis OMIM:306900
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia, High palate, Cupped ear OMIM:110100
Ablepharon Macrostomia Syndrome
Corneal erosion, Hypoplasia of penis, Microtia, Corneal opacity, Hearing impairment, Camptodactyl... ORPHA:920
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Dermatomyositis
Myocarditis, Myositis, Abnormal eosinophil morphology, Skin rash, Arthritis, Pericarditis, Heliot... ORPHA:221
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Hypospadias, Abnormal pinna morphology, Absent tragus, High palate, Atresia of th... OMIM:603457
Tuberous Sclerosis Complex
Retinal hamartoma, Cardiac rhabdomyoma, Subependymal nodules, Polycystic kidney dysplasia, Renal ... ORPHA:805
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Urinary incontinence OMIM:236690
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Vici Syndrome
Neutropenia, Chronic mucocutaneous candidiasis, T lymphocytopenia, Micrognathia, Decreased propor... OMIM:242840
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Ventriculomegaly, Hydrocephalus, Homocystinuria ORPHA:395
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis OMIM:307000
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus OMIM:617542
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent pneumonia, Persistence of hemoglobin F OMIM:619769
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Astigmatism, Aganglionic megacolon, Corneal erosion, Hydroureter, Corneal opacity, Camptodactyly ... ORPHA:2273
Orofaciodigital Syndrome Ii
Hydrocephalus, High palate, Conductive hearing impairment, Cleft palate, Lobulated tongue, Tongue... OMIM:252100
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Johanson-Blizzard Syndrome
Conjunctival icterus, Sensorineural hearing impairment, Ascites, Urethrovaginal fistula, Splenome... OMIM:243800
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Exstrophy-Epispadias Complex
Penoscrotal transposition, Epispadias, Anal stenosis, Abnormality of the gastrointestinal tract, ... ORPHA:322
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Opacification of the corneal stroma, Hearing impairment, Tinnitus ORPHA:79280
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Sy... OMIM:300967
Fraser Syndrome
Finger syndactyly, Vertebral segmentation defect, Abnormal rib morphology, Limb undergrowth, Wide... ORPHA:2052
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating hydrocephalus ORPHA:2184
Glycogen Storage Disease Ic
Chronic pancreatitis, Stomatitis, Inflammation of the large intestine, Gout, Cyclic neutropenia OMIM:232240
Adams-Oliver Syndrome 1
Microphthalmia, Encephalocele, Pulmonic stenosis, Aortic valve stenosis, Cleft palate, Tetralogy ... OMIM:100300
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Optic atrophy, Hearing impairment, Retinopathy, Hydrocephalus ORPHA:220295
Dysbetalipoproteinemia
Acute pancreatitis, Gout ORPHA:412
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Camptodactyly of finger, Hypoplasia of the ear cartilage, Large earlobe, Iris col... ORPHA:1236
Semilobar Holoprosencephaly
Neural tube defect, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Sensorin... ORPHA:220386
Alobar Holoprosencephaly
Neural tube defect, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Sensorin... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Sensorin... ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Sensorin... ORPHA:93924
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Abnormal optic nerve morphology, Hamartomatous polyposis, Ab... ORPHA:109
Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anteriorly placed anus, Anophthalmia ORPHA:2717
Coffin-Siris Syndrome 12
Elevated circulating hepatic transaminase concentration, Sensorineural hearing impairment, Noncom... OMIM:619325
Witteveen-Kolk Syndrome
Microphthalmia, Sensorineural hearing impairment, Joint hypermobility, Ventriculomegaly, Male ure... OMIM:613406
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Vitreous floaters, Posterior uveitis, Retinal pigment epitheli... OMIM:605808
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo... ORPHA:1457
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Scoliosis, Femoral bowing, Hemivertebrae, Ca... OMIM:201750
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve, High, narrow palate, Abnormality iris morphology ORPHA:91387
Frontofacionasal Dysplasia
Microphthalmia, Microcornea, Bifid uvula, Cataract, Cranium bifidum occultum, Iris coloboma OMIM:229400
Oxoglutaric Aciduria
Hydrocephalus, Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Vascular Ehlers-Danlos Syndrome
Talipes equinovarus, Joint dislocation, Periodontitis, Pectus excavatum, Congenital hip dislocati... ORPHA:286
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Pustule ORPHA:48377
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Rheumatoid arthritis, Hashim... ORPHA:49041
Alström Syndrome
Urinary incontinence, Elevated circulating hepatic transaminase concentration, Splenomegaly, Reti... ORPHA:64
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eos... ORPHA:99889
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Craniopharyngioma
Optic atrophy, Hydrocephalus, Hearing impairment, Papilledema, Increased susceptibility to fractures ORPHA:54595
Primary Fanconi Renotubular Syndrome
Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures ORPHA:3337
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Hypospadias, Hydrocephalus, Cle... OMIM:313850
Genitopatellar Syndrome
Knee flexion contracture, Scoliosis, Inferior pubic ramus hypoplasia, Congenital hip dislocation,... OMIM:606170
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration, Keratoconjunctivitis sicca OMIM:618479
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Gitelman Syndrome
Chondrocalcinosis, Iron deficiency anemia, Hashimoto thyroiditis, Gout, Tubulointerstitial nephritis ORPHA:358
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hydrocephalus, Optic nerve hypoplasia, Joint hypermobility, Ventriculo... ORPHA:457284
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus, Abdominal situs inversus OMIM:618699
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hypermobility, Arthritis ORPHA:93111
Alport Syndrome
Macular degeneration, Retinal flecks, Nephritis ORPHA:63
Chronic Graft Versus Host Disease
Pancytopenia, Arthritis, Flexion contracture, Bronchiectasis, Urinary bladder inflammation, Fasci... ORPHA:99921
Hydrocephalus, Congenital, 4
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy OMIM:620422
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Choreoacanthocytosis
Arthritis, Acanthocytosis, Abnormal erythrocyte enzyme concentration or activity, Splenomegaly ORPHA:2388
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration ORPHA:247234
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Retinal pigment e... ORPHA:71505
Pagod Syndrome
Optic atrophy, Abnormal rib morphology, Abnormality of the spleen, Abnormal clavicle morphology ORPHA:991
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Fraser Syndrome 3
Hypoplasia of penis, Hydrocephalus, Low-set ears, Ascites, Ureteral agenesis, Simple ear OMIM:617667
Craniofacial Microsomia 1
Occipital encephalocele, Microphthalmia, Ectopic kidney, Sensorineural hearing impairment, Microt... OMIM:164210
Chilton-Okur-Chung Neurodevelopmental Syndrome
Recurrent otitis media, Hypospadias, Sensorineural hearing impairment, Patent foramen ovale, Low-... OMIM:619841
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Neurogenic bladder, Dermal sinus tract,... OMIM:600145
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Meningioma
Urinary incontinence, Hydrocephalus, Neoplasm of the tongue, Facial palsy, Papilledema, Tinnitus ORPHA:2495
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology ORPHA:94147
Cone-Rod Dystrophy 6
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... OMIM:601777
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
High palate, Low-set ears, Communicating hydrocephalus, Macrotia, Posteriorly rotated ears, Joint... OMIM:617011
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Choroideremia, Reti... ORPHA:1435
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Limitation of joint mobility, High palate, Communicating hydro... ORPHA:457359
Neurofibromatosis, Type I
Aqueductal stenosis, Hypsarrhythmia, Hydrocephalus, Renal artery stenosis, Spina bifida, Lisch no... OMIM:162200
Holoprosencephaly 1
Microphthalmia, Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Micropenis, Single v... OMIM:236100
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Recurrent corneal erosions, Corneal neovascularization, Aganglionic megacolon, Hypospadias, Unila... OMIM:308205
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Bifid uvula, Cleft palate, Cleft soft palate ORPHA:2736
Lhermitte-Duclos Disease
Hydrocephalus, Macroglossia ORPHA:65285
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Apolipoprotein A-I Deficiency
Opacification of the corneal stroma ORPHA:425
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus, Optic nerve compression ORPHA:91350
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Renal Cysts And Diabetes Syndrome
Gout OMIM:137920
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cleft soft palate, Microtia, Atresia of the external auditory canal, Co... OMIM:154500
Hypoplasminogenemia
Hydrocephalus, Duodenal ulcer, Dandy-Walker malformation, Nephrolithiasis ORPHA:722
Singleton-Merten Syndrome 1
Osteopenia, Osteolytic defects of the phalanges of the hand, Mitral valve calcification, Osteopor... OMIM:182250
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Enuresis, Occipital meningo... ORPHA:268810
Isolated Arrhinia
Microtia, Microphthalmia ORPHA:1134

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term atrophy Chsy1em1(IMPC)Mbp HOM Early adult
Eye - MPATH pathological process term developmental dysplasia Chsy1em1(IMPC)Mbp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chsy1.

No publications found that use IMPC mice or data for Chsy1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Chsy1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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