Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Notum MGI:1924833

Gene Summary

Name:

notum palmitoleoyl-protein carboxylesterase

Synonyms:

5730593N15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
decreased grip strength	Notum^em1(IMPC)Tcp	HET	Late adult	4.86×10^-05
small uterus	Notum^em1(IMPC)Tcp	HET	Late adult	0.00
cataract	Notum^em1(IMPC)Tcp	HET	Late adult	2.36×10^-07
decreased exploration in new environment	Notum^em1(IMPC)Tcp	HET	Early adult	1.49×10^-08
abnormal uterus morphology	Notum^em1(IMPC)Tcp	HET	Early adult	0.00
preweaning lethality, incomplete penetrance	Notum^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal brain morphology	Notum^em1(IMPC)Tcp	HOM	Early adult	0.00
anophthalmia	Notum^em1(IMPC)Tcp	HOM	E18.5	0.00
small spleen	Notum^em1(IMPC)Tcp	HET	Late adult	0.00
small ovary	Notum^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal kidney morphology	Notum^em1(IMPC)Tcp	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

157 Images

View images

Gross Pathology and Tissue Collection

Images

12 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

Histopathology

Images

20 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Immunophenotyping

Panel A FCS file(s)

7 Images

View images

X-ray

4 Images

View images

Eye Morphology

Images Ophthalmoscopy

1 Images

View images

Human diseases caused by Notum 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.

Human diseases associated with Notum (0 diseases)
Human diseases predicted to be associated with Notum (1227 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Mounier-Kühn Syndrome	Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T...	ORPHA:3347
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Tracheal atresia	OMIM:601612
Congenital Respiratory-Biliary Fistula	Tracheal stenosis	ORPHA:2040
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Tracheal atresia	ORPHA:3346
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Atelectasi...	ORPHA:3348
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im...	ORPHA:71267
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ...	OMIM:610967
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow...	OMIM:301014
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me...	OMIM:184260
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Anonychia-Microcephaly Syndrome	Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition	ORPHA:1094
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteri...	ORPHA:166272
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica...	OMIM:259440
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones	ORPHA:53697
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Jung Syndrome	Tracheal stenosis, Recurrent respiratory infections	ORPHA:2321
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Isolated Osteopoikilosis	Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, Syndactyly,...	ORPHA:166119
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ...	ORPHA:53
Laryngotracheoesophageal Cleft Type 4	Tracheal stenosis, Tracheoesophageal fistula	ORPHA:93941
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Cranio...	OMIM:259700
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe...	OMIM:618363
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal dental ename...	ORPHA:10
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl...	ORPHA:2790
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Moderate albuminuria, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of t...	OMIM:619269
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ...	ORPHA:79405
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Tracheal stenosis, Hypoplasia of penis	OMIM:601427
Hall-Riggs Syndrome	Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp...	OMIM:234250
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Short 1st metacarpal, Joint hyperflexibility, Hip dysplasia, Short mid...	ORPHA:63442
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Craniosynostosis	ORPHA:178377
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Mic...	OMIM:613848
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Thin upper lip vermilion, Abnormal cortical bone morphology, Unilateral re...	ORPHA:2512
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Cataract 29	Cataract	OMIM:115800
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Renal agenesis, Cleft palate, Upper limb phocomelia, Atypi...	ORPHA:294975
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Urethral stricture, Increased connective tissue, Carious teeth, Keratitis, Scarring alopecia of s...	OMIM:226670
Pendred Syndrome	Tracheal stenosis, Nephropathy	ORPHA:705
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ...	ORPHA:79406
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Osteoporosis	Osteoporosis	OMIM:166710
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal...	OMIM:112240
Keutel Syndrome	Recurrent respiratory infections, Pulmonary artery stenosis, Calcification of cartilage, Recurren...	ORPHA:85202
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Taurodontism	Taurodontia	OMIM:272700
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Unilateral renal agenesis, Micrognathia, Diastema, Patent ductus arter...	OMIM:609757
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Failure to thrive, Pancytopenia, Unilateral renal agenesis, Postaxial polydactyly, ...	OMIM:614576
Spastic Paraparesis And Deafness	Cataract, Hypogonadism	OMIM:312910
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Osteoporosis, Obesity, Short metatarsal, Enamel hypo...	OMIM:612463
Cranioectodermal Dysplasia 4	Joint hypermobility, Sagittal craniosynostosis, Recurrent pneumonia, Stage 5 chronic kidney disea...	OMIM:614378
48,Xyyy Syndrome	Acne, Thick lower lip vermilion, Abnormal renal morphology, Irregularly spaced teeth, Radioulnar ...	ORPHA:99329
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal ...	ORPHA:96263
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Cataract	OMIM:274205
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Coxa vara, Increased suscepti...	OMIM:610968
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Schimke Immuno-Osseous Dysplasia	Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephr...	ORPHA:1830
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Emanuel Syndrome	Broad jaw, Chronic oral candidiasis, Recurrent urinary tract infections, Congenital hip dislocati...	OMIM:609029
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ...	ORPHA:79411
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Velop...	OMIM:613680
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Anemia	ORPHA:79402
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ...	OMIM:610915
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Hip dislocation, Cut...	OMIM:203550
Burn-Mckeown Syndrome	Mandibular prognathia, Inguinal hernia, Unilateral renal agenesis, Cleft upper lip, Micrognathia,...	OMIM:608572
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor...	OMIM:616294
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hall...	OMIM:212780
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Atrophic scars, Enamel hypoplasia, Failure to thrive	OMIM:226700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph...	OMIM:211900
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Toe syndactyly, ...	ORPHA:819
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Micrognathia, Postaxial ...	OMIM:618142
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Hurler-Scheie Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate...	OMIM:607015
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Momo Syndrome	Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus...	ORPHA:2563
Majeed Syndrome	Flexion contracture, Glomerulopathy, Increased bone mineral density, Hepatomegaly, Acne, Congenit...	ORPHA:77297
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Infertility	OMIM:300719
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl...	OMIM:166200
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Thin long bone diaphyses, Osteoporosis, Hip dis...	OMIM:616507
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor...	ORPHA:96264
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario...	OMIM:131300
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ...	OMIM:144750
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi...	ORPHA:763
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Small for gest...	OMIM:101800
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Tracheobronchomegaly	Death in infancy, Recurrent bronchopulmonary infections, Diverticulosis of trachea, Bronchiectasis	OMIM:275300
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eosin...	OMIM:147060
Hypomandibular Faciocranial Dysostosis	Tracheal stenosis, Death in infancy, Recurrent respiratory infections, Abnormal tracheobronchial ...	ORPHA:1790
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Dentinogenesis imperfecta, Atypical scarring of skin	OMIM:229200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Ck Syndrome	Dental crowding, Micrognathia, Abnormal digit morphology, High palate, Malar flattening, Abnormal...	OMIM:300831
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Recurre...	ORPHA:251004
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Inguinal hernia, Multiple joint contractures, Dental crowdi...	ORPHA:96170
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxil...	ORPHA:245
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis...	OMIM:122860
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious ...	OMIM:612714
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Camptodactyly of fi...	OMIM:619951
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow...	ORPHA:1423
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Premature loss of t...	OMIM:174810
Pycnodysostosis	Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ...	OMIM:265800
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Carious te...	OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Hemolytic-uremic syndrom...	OMIM:614727
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat...	ORPHA:3019
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Conical tooth, Thromb...	OMIM:617475
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, ...	ORPHA:887
Hypogonadism-Cataract Syndrome	Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal...	OMIM:240950
Microcephaly 30, Primary, Autosomal Recessive	Tracheal stenosis	OMIM:620183
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate	OMIM:600252
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Abnormal epiphysis morphology, Neutropenia, Enamel hypoplasia, Brach...	ORPHA:2643
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Omphalocele, Congenital hip dislocation, In...	OMIM:614450
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia of the lungs, Multicystic kidney dysplasia, Abnormal lung lobation, Tracheal s...	ORPHA:3301
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Joint stiffness	ORPHA:2871
Braddock Syndrome	Preaxial hand polydactyly, Failure to thrive, Unilateral renal agenesis, Micrognathia	ORPHA:52047
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping toe, Unilateral renal agenesis, High, narrow palate, Renal ...	OMIM:618494
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Joint hypermobility, Unilateral renal agenesis, Cleft lip, Pierre-Robin...	OMIM:619504
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ...	OMIM:157980
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilater...	OMIM:614900
Snijders Blok-Campeau Syndrome	Joint laxity, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, E...	OMIM:618205
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Micrognathia, Cleft upper lip, Ectopic kidney, Cleft p...	OMIM:601076
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, 2-3 toe syndactyly, High palate, Short philtrum, Talipes equinovarus, ...	ORPHA:3306
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Inguinal hernia, Hypospadias, Overlapping toe, Unilateral renal agenesi...	OMIM:616737
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly, Syndactyly	OMIM:613576
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enam...	ORPHA:1133
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border, Hepatitis	ORPHA:363523
Fraser Syndrome 3	Hypoplasia of penis, Abnormal lung lobation, Ureteral agenesis, Stillbirth, Tracheal atresia	OMIM:617667
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat...	OMIM:224300
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N...	OMIM:615285
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Micrognathia, Umbilical hernia, Nephroblastoma, Enlar...	OMIM:618272
Mulibrey Nanism	Hepatomegaly, Dental crowding, Nephroblastoma, Cardiomegaly, Absent frontal sinuses, Thickened co...	OMIM:253250
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Branchioskeletogenital Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Upper limb peromelia, Downturned corners of mou...	ORPHA:1299
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Short distal phalanx of finger, Bowing of t...	ORPHA:2484
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi...	OMIM:618761
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Obesity, Short metatarsal, ...	OMIM:103580
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Osteoarthritis, Short toe, Tooth ag...	ORPHA:633
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor...	ORPHA:1077
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Diastrophic Dysplasia	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Mi...	ORPHA:628
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Re...	ORPHA:2863
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia, Shagree...	ORPHA:1816
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic...	ORPHA:79409
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal age...	ORPHA:2260
Rapp-Hodgkin Syndrome	Syndactyly, Hypospadias, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngea...	OMIM:129400
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Acne, Camptodactyly of finger,...	ORPHA:137834
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of...	ORPHA:289176
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo...	ORPHA:536467
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Micrognathia, Coxa valga, Cleft palate, Oligosacchariduria, Downt...	ORPHA:163649
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,...	ORPHA:3270
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Spastic Paraparesis-Deafness Syndrome	Cataract, Hypogonadism	ORPHA:2815
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria, Arthri...	ORPHA:375
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip d...	OMIM:616362
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Hypospadias, Diastema, Agenesis of molar, Supernumerary tooth, ...	OMIM:619718
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Cleft palate,...	ORPHA:79284
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra...	ORPHA:666
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atypical scarring of skin, A...	ORPHA:79410
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Anencephaly 2	Anophthalmia	OMIM:619452
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn...	ORPHA:85184
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Micromelia, Bowing of the legs,...	OMIM:610682
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Ever...	OMIM:619980
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A...	OMIM:194072
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ...	ORPHA:2710
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Short humeru...	OMIM:239000
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage flui...	OMIM:608710
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, T...	OMIM:612350
Oculodentodigital Dysplasia	Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teeth, Clinodactyly, 4-5 f...	OMIM:164200
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Galactosemia Iv	Cataract, Prolonged neonatal jaundice	OMIM:618881
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Hypophosphatasia, Childhood	Elevated urine pyrophosphate, Craniosynostosis, Premature loss of primary teeth, Carious teeth, B...	OMIM:241510
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Osteoporosis, Obesity, Short metatarsal, Low urinary...	OMIM:612462
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Short lo...	OMIM:618845
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Micropenis, Increased overbite	OMIM:618504
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Period...	ORPHA:79259
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal pelvis bone morph...	ORPHA:73
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Cleft palate, Short distal phalanx of finger	OMIM:601355
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Unilateral renal agenesis, Patent ductus arteriosus, ...	OMIM:617190
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur...	ORPHA:534
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Small for gestational age, Rocker bottom foot, Micrognathia, Carious t...	OMIM:214150
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis	OMIM:244200
Osteoglosphonic Dysplasia	Inguinal hernia, Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, Tooth ...	ORPHA:2645
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
12Q14 Microdeletion Syndrome	Ectopic kidney, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Renal hypoplasia, Horse...	ORPHA:94063
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent pneumonia...	OMIM:619752
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Clinodactyly, Renal hypoplasia, Micro...	OMIM:616541
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral densi...	OMIM:617052
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub...	ORPHA:2780
Proteus Syndrome	Thin bony cortex, Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hype...	OMIM:176920
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Neonatal death, Long h...	OMIM:259775
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Urethral atresia, ...	ORPHA:1896
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Seckel Syndrome 5	Hypospadias, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypo...	OMIM:613823
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Trichomegaly	Cataract	OMIM:190330
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Obesit...	OMIM:300602
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Downturned corners of mouth, Craniosynostosis, Unilateral renal agenesis, Micrognathia	ORPHA:1064
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Arthritis, A...	ORPHA:37748
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Branchial cyst, Branchial fistula, Congenital hip dislocation...	OMIM:113650
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Tapered finger, Dental malocclusion, Alveo...	ORPHA:444072
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla...	OMIM:620099
Grant Syndrome	Bowing of the long bones, Micrognathia, Open bite, Joint hyperflexibility, Abnormal pelvic girdle...	ORPHA:2097
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Seckel Syndrome 1	Ivory epiphyses, Pancytopenia, Dental crowding, Selective tooth agenesis, Hypospadias, Micrognath...	OMIM:210600
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Abnormality of the dentition, Clinodactyly, Nephrocalcinosis, Oligodontia,...	ORPHA:557003
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Tracheal stenosis, Hypospadias, Tracheomalacia	OMIM:217980
Geleophysic Dysplasia 3	Tracheal stenosis, Pneumonia	OMIM:617809
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis...	ORPHA:221139
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Thin upper lip vermilion, Recurrent urinary tract infections, Exaggerated cupid's b...	OMIM:619293
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenis...	ORPHA:77259
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size	ORPHA:1875
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Abnormality of the...	ORPHA:416
Dyskeratosis Congenita	Hepatomegaly, Recurrent fractures, Abnormality of neutrophils, Abnormality of the dentition, Hypo...	ORPHA:1775
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Micrognathia, Osteopetrosis, Decreased body weight, Clinodactyly ...	OMIM:617306
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Filippi Syndrome	2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion border, Short philt...	OMIM:272440
Spondyloepimetaphyseal Dysplasia, Shohat Type	Tracheal stenosis, Abnormal bronchus morphology	ORPHA:93352
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, P...	OMIM:619797
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ...	ORPHA:487796
Chondrodysplasia Punctata 2, X-Linked Dominant	Tracheal stenosis, Hydronephrosis, Tracheal calcification	OMIM:302960
Orofaciodigital Syndrome Type 5	Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac...	ORPHA:2919
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Abnormal bronchus morphology, Pulmonary artery stenosis, Trache...	ORPHA:79345
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism...	ORPHA:2658
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger...	OMIM:119600
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Keratitis, Scarring alopecia of scalp, Folliculitis, Conjunctivitis, Enamel hypopl...	OMIM:612843
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short philtrum, High palat...	ORPHA:96121
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin...	OMIM:308050
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Galactosemia Ii	Cataract, Prolonged neonatal jaundice	OMIM:230200
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
Hamamy Syndrome	Osteopenia, Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Long to...	OMIM:611174
Hydrolethalus	Tracheal atresia	ORPHA:2189
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca...	OMIM:269300
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron deficiency anemi...	OMIM:212750
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Micropenis, High palate, Unilateral renal agenesis	OMIM:308750
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Decreased body weight, Dental crowding, Persistence of primary teeth, Micrognathia,...	OMIM:618342
Mucopolysaccharidosis-Plus Syndrome	Metaphyseal widening, Flexion contracture, Leukopenia, Neutropenia, Nephritis, Hepatomegaly, Pate...	OMIM:617303
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Beemer-Ertbruggen Syndrome	Deep philtrum, Increased bone mineral density, Thrombocytopenia, Micrognathia	ORPHA:1237
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h...	ORPHA:94089
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Potocki-Shaffer Syndrome	Nephroblastoma, Micrognathia, Downturned corners of mouth, Short philtrum, Micropenis, Decreased ...	ORPHA:52022
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Desmosterolosis	Failure to thrive, Increased bone mineral density, Renal agenesis, Micromelia, Micrognathia, Rena...	ORPHA:35107
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hyperphosphaturia, Coxa valga, Carious teeth, Hypoplasia of teeth, Genu valgum, Hypophosphatemic ...	OMIM:613312
Cerebellofaciodental Syndrome	Tapered finger, Dental malocclusion, Shortening of all distal phalanges of the fingers, Genu valg...	OMIM:616202
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Microgn...	OMIM:259720
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl...	OMIM:619719
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Large h...	ORPHA:3220
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Oligosacchariduria, Macro...	OMIM:616354
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Short fifth metatars...	ORPHA:79444
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph...	OMIM:190350
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Dental crowding, Hypospadias, Joint stiffness, Tracheobronchomalacia, Pierr...	OMIM:619184
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Foot oligodactyly...	OMIM:154400
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Scarring, Delayed eruption of primary teeth, Flexion contrac...	ORPHA:90322
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contract...	OMIM:604273
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia	ORPHA:517
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa...	OMIM:613684
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Laryngotracheal stenosis	OMIM:222600
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynos...	ORPHA:2314
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi...	OMIM:618506
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Cleft palate, Evert...	OMIM:619736
Meckel Syndrome, Type 8	Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyp...	OMIM:613885
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora...	ORPHA:952
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Tracheal stenosis, Recurrent respiratory infections	ORPHA:2637
Myoectodermal Gonadal Dysgenesis Syndrome	Short palm, Omphalocele, Accessory spleen, Small for gestational age, Unilateral renal agenesis, ...	OMIM:618419
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te...	OMIM:218400
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Post...	OMIM:216360
Endocrine-Cerebroosteodysplasia	Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Microphallus, Thick upper lip verm...	OMIM:612651
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab...	ORPHA:436
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta...	OMIM:213980
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Cleft pal...	ORPHA:2635
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi...	OMIM:601957
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Limitation of joint mobility, Ectopic ossification in ligament tissu...	ORPHA:337
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil...	ORPHA:1193
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Sandal gap, Micrognathia, Renal hypoplasia/aplasia, Splenomegal...	ORPHA:1046
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Multiple joint contractures, Hypospadias, Camptodactyly...	ORPHA:468631
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short palm, Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostos...	ORPHA:171839
H Syndrome	Hallux valgus, Psoriasiform dermatitis, Lipodystrophy, Abnormality of the kidney, Recurrent fract...	ORPHA:168569
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Progressive alveolar ridge hypertro...	OMIM:252500
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp...	ORPHA:1897
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Short femur, Recurrent fractures, Unilateral renal agenesis, Metaphy...	OMIM:618188
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nar...	OMIM:226600
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Cleft palate, Cervical C2/C3 vertebral fusi...	OMIM:118100
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Abnormal sacroiliac joint morphology, Cr...	ORPHA:324964
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Long philtrum, Purse...	ORPHA:800
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria, Abnormal renal tubule morph...	ORPHA:839
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp...	OMIM:618727
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, D...	ORPHA:884
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Malar flatten...	OMIM:618874
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Hip contracture, Hydroureter, Unilateral renal agenesis, Broad distal p...	OMIM:619194
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N...	ORPHA:432
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon...	ORPHA:50945
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Hypoplasia of the uterus, Leukopenia, Anemia, Bone ma...	OMIM:619151
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contracture, De...	ORPHA:90321
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Gingivitis, Premature loss of teeth,...	OMIM:618107
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short palm, Finger syndactyly, Inguinal hernia, Camptodactyly of finge...	ORPHA:915
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Submucous cleft hard palate, Fused cervical vertebrae,...	OMIM:619227
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala...	ORPHA:420561
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,...	ORPHA:181
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k...	OMIM:614527
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Overweight, Hiatus hernia, Patent ductus arteriosu...	OMIM:619769
Atelis Syndrome 1	Eczema, Carious teeth, Thrombocytopenia, Bronchiectasis, Leukopenia, High palate, Long philtrum, ...	OMIM:620184
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Micropenis, High palate, Unilateral renal agenesis	OMIM:308700
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Hepatomegaly, Persistenc...	ORPHA:2785
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Chronic ki...	ORPHA:85445
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Hydroureter, Abnormal dental morphology, Abnormal de...	ORPHA:1458
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H...	OMIM:613091
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Short fifth metatars...	ORPHA:79443
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small for gestational age, Abnormal finger flexion c...	ORPHA:2980
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia	ORPHA:99927
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Sulfocysteinuria, Eczema, Increased urinary sulfite level, Decreased u...	OMIM:272300
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ...	ORPHA:1486
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, Renal hy...	OMIM:617661
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Igg4-Related Thyroid Disease	Tracheal stenosis	ORPHA:64744
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short palm, Short metacarpal, Dental crowding, Avascular ne...	OMIM:190351
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly	OMIM:236110
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Swelling of proximal int...	ORPHA:69087
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m...	OMIM:617926
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Sinusitis, Transient neutropenia, Aplastic anemia, Metaphyseal cho...	ORPHA:811
Char Syndrome	Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Persistence of primary te...	ORPHA:46627
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se...	ORPHA:2410
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Micrognathia, Osteoporosis, Truncal obesity...	ORPHA:73272
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va...	OMIM:608940
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Ope...	ORPHA:1327
Scarf Syndrome	Inguinal hernia, Craniosynostosis, Perineal hypospadias, Micropenis, Joint hyperflexibility, Shor...	ORPHA:3134
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndact...	OMIM:270400
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Craniosynostosis, Abnormality of the dentition, Bowing of the legs,...	OMIM:241500
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar...	ORPHA:93346
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor...	ORPHA:950
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c...	ORPHA:33364
Cohen Syndrome	Short metacarpal, Small for gestational age, Micrognathia, Hypoplasia of the maxilla, High, narro...	OMIM:216550
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Oslam Syndrome	Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu...	ORPHA:2760
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Micrognathia, Bowing o...	ORPHA:313855
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Anaplastic Thyroid Carcinoma	Neoplasm of the lung, Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal skeletal musc...	ORPHA:142
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing	OMIM:126550
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph...	OMIM:123000
Craniofacioskeletal Syndrome	Tracheal stenosis, Hypospadias, Hydronephrosis	OMIM:300712
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses o...	OMIM:309350
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Hepatomegaly, Abnormal dental morphology, Renal hyp...	ORPHA:191
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Neuronal Intestinal Pseudoobstruction	Natal tooth, Patent ductus arteriosus, Congenital diaphragmatic hernia	ORPHA:99811
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Coffin-Siris Syndrome 3	Joint laxity, Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th fing...	OMIM:614608
Felty Syndrome	Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Splenome...	ORPHA:47612
Geleophysic Dysplasia 1	Tracheal stenosis, Joint contracture of the hand, Wrist flexion contracture, Camptodactyly of finger	OMIM:231050
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda...	OMIM:257850
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper...	ORPHA:88630
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m...	ORPHA:2673
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Mic...	OMIM:619356
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Vesicoureteral reflux, Micropenis, Elbo...	ORPHA:95699
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short ph...	ORPHA:221016
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Proteinuria, Sagittal craniosynostosis, Micrognathia, Hematuria, Tubulointerstitial ...	OMIM:616901
Acrofacial Dysostosis, Catania Type	Carious teeth, Hypospadias, Short palm	OMIM:101805
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Patent ductus arteriosus, S...	ORPHA:2712
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Synostosis...	ORPHA:289
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Osteoporosis, Nephrolithiasis, Oral ulcer, Gout, Focal s...	OMIM:232220
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Nephrocalcinosis, Flexion contracture	OMIM:617105
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane...	OMIM:243150
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Cataract, Hypogonadism	ORPHA:2528
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp...	ORPHA:2741
Sanjad-Sakati Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis, Abnormality of the...	ORPHA:2323
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,...	OMIM:617237
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Micrognathia, Absent thumb, Absent radius, Renal hypoplasia, Cleft pal...	OMIM:614083
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Oral mucosal blisters, Urethrovesical occlusion, Atrophic scars, Arthrogryposis multiplex congeni...	OMIM:226730
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Thrombocytopenia, Osteopetrosis, Failure to thrive, Anemia	OMIM:615085
Cockayne Syndrome Type 3	Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Ca...	ORPHA:90324
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Renal hypoplasia, Cleft palate, High pa...	OMIM:246560
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Unilateral renal agenesis	OMIM:235740
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the...	ORPHA:3145
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, High palate, Long philtrum	OMIM:618825
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chon...	ORPHA:99646
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Gastrointestinal inflammation, A...	ORPHA:79404
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Three M Syndrome 2	Delayed eruption of teeth, Small for gestational age, Dental malocclusion, Prominent calcaneus, S...	OMIM:612921
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Brachydactyly, Inguinal hernia, Sandal gap, Thick lower lip vermilion,...	OMIM:614607
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic...	OMIM:617641
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Micromelia, Bilateral renal hypoplasia, Cleft maxilla...	ORPHA:508488
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Kenny-Caffey Syndrome, Type 1	Carious teeth, Small hand, Short foot, Slender long bone, Short palm, Decreased skull ossificatio...	OMIM:244460
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Renal agenesis, Small f...	OMIM:615583
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Osteopenia, Flexion contracture, Gastrointestinal inflammation, Iron deficien...	ORPHA:79408
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Flexion contracture, Genu valgum, Irregu...	ORPHA:263463
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth,...	OMIM:610253
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing...	ORPHA:221008
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Small for gestational age, Long penis, High palate, Advanced eruption of t...	OMIM:262190
Cranioectodermal Dysplasia 1	High, narrow palate, Tubulointerstitial nephritis, High palate, Widely spaced teeth, Microdontia,...	OMIM:218330
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Prot...	ORPHA:1855
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Clinodactyly, Failu...	OMIM:617883
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Recurrent urinary tract infections, Sandal gap, Joint hypermobility, C...	OMIM:619229
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth mal...	ORPHA:3238
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Cataract	ORPHA:79238
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Tracheal stenosis, Micropenis, Hypospadias, Hydronephrosis	ORPHA:163979
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Hepatomegaly, Lipodystrophy, Lipoat...	ORPHA:2348
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Abnormality of the dentition, Hypoplasia of the maxilla, Cra...	OMIM:617140
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g...	ORPHA:347
Larsen Syndrome	Tracheal stenosis, Bronchomalacia, Tracheomalacia	OMIM:150250
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Oral mucosal blisters, Urinary bladder inflammatio...	ORPHA:79403
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Micrognathia, Carious teeth, Trismus, Tapered finger, Adducted thumb, Elbow flexion c...	OMIM:272430
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Abnormality of the dentition, Oligod...	ORPHA:2315
Werner Syndrome	Renal neoplasm, Increased bone mineral density, Lipodystrophy, Rocker bottom foot, Lipoatrophy, J...	ORPHA:902
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Nephropathy, Abnormal dental enamel morphology	ORPHA:2238
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease...	ORPHA:243
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosyn...	ORPHA:667
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene...	OMIM:617666
Short Syndrome	Delayed eruption of teeth, Joint laxity, Enlarged epiphyses, Inguinal hernia, Small for gestation...	OMIM:269880
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Acute leukemia	ORPHA:281090
Frontometaphyseal Dysplasia 2	Hip contracture, Neurogenic bladder, Decreased muscle mass, Elbow contracture, Camptodactyly, Tra...	OMIM:617137
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneous fat, Corneal scarring, Premat...	OMIM:610965
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Short lingual frenulum, Unilateral renal agenesis, Widely-spaced maxillary centra...	OMIM:608980
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Abnor...	ORPHA:2063
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica...	OMIM:204690
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Unilateral renal agenesis, Hip dislocation, Talipes equinovarus, Hernia...	OMIM:616603
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300554
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat...	OMIM:619322
Hydrolethalus Syndrome 1	Hypospadias, Abnormal lung lobation, Stillbirth, Tracheal stenosis, Agenesis of the diaphragm, Hy...	OMIM:236680
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epip...	OMIM:241530
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Recurrent fractures, Ab...	ORPHA:2050
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl...	OMIM:113300
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ...	ORPHA:50814
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Eczema, Thrombocytopenia, Gingival ov...	ORPHA:508542
Kabuki Syndrome 2	Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Cle...	OMIM:300867
Lead Poisoning	Delayed eruption of teeth, Small for gestational age, Skin rash, Chronic kidney disease, Cranial ...	ORPHA:330015
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Microdon...	OMIM:615873
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp...	OMIM:620193
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Slender lon...	OMIM:612731
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Immunodeficiency 32B	Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B...	OMIM:226990
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Recurrent urinary tract infections, Inguinal hernia, Hypospadias, Cleft soft palat...	ORPHA:268261
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un...	OMIM:616300
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300009
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou...	ORPHA:582
Cartilage-Hair Hypoplasia	Tracheal stenosis, Aplasia/Hypoplasia of the abdominal wall musculature, Mucopolysacchariduria	ORPHA:175
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Brachydactyly, Adducted thumb	OMIM:620062
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Hypospadias, Abnor...	ORPHA:2616
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Anemia, Ne...	ORPHA:575
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat...	OMIM:619503
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Scarring, Craniosynostosis, Oral mucosal blisters, Atrophic scars, Smo...	ORPHA:79396
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Patent ductus arteriosus, Renal tubular dysfunction, Decreased body...	OMIM:614886
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow...	OMIM:272460
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, 3-4 fin...	OMIM:181270
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand...	OMIM:240300
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Renal cyst, Downturned co...	ORPHA:261494
Acrocraniofacial Dysostosis	Craniosynostosis, Micrognathia, Tapered finger, Coxa valga, Cleft palate, Ulnar deviation of fing...	ORPHA:949
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the kidney, Tracheomalacia, Abnormality of the denti...	ORPHA:261652
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Transient neutropenia, Chronic ...	ORPHA:500095
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Eczema, Conical tooth, Hypoplasia o...	OMIM:305100
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Toe syndactyly, Camptodactyly of finger, Unilateral ren...	ORPHA:261337
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Pallister-Hall Syndrome	Ectopic kidney, Large for gestational age, Micropenis, Bifid uvula, Microretrognathia, Mesoaxial ...	ORPHA:672
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement o...	OMIM:620370
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple...	ORPHA:507
Hereditary Leiomyomatosis And Renal Cell Cancer	Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm	ORPHA:523
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, al...	OMIM:619824
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Aphthous ulcer, Bronchiecta...	OMIM:301082
Teeth Present At Birth	Natal tooth	OMIM:187050
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long toe, Tapered toe, Hepatomegaly, ...	OMIM:608836
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Short palm, Micrognathi...	ORPHA:85201
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short palm, Hypoplasti...	OMIM:235510
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, ...	ORPHA:818
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Aphthous ulcer, Leukocytosis, Uveitis, Arthritis, Renal amyloidosis, Conjunctivitis	OMIM:120100
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia	ORPHA:2309
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Spl...	OMIM:309900
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short philtrum, Advan...	OMIM:619148
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Seborrheic dermatitis, Marked delay in eruption of permanent ...	OMIM:104570
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia	OMIM:601345
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Micrognathia, Glossoptosis, High palate, Hypospadias, Rhizomelia, Hemolytic-uremic sy...	OMIM:611209
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital...	OMIM:202010
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Joint stiffness, Coxa valga, Patent ductus arteriosus, Splenomeg...	OMIM:230600
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Joint laxity, Hepatomegaly, Inguinal hernia, Grayish enamel, Carious teeth...	OMIM:253000
Trichothiodystrophy 3, Photosensitive	Natal tooth, Lymphopenia, Carious teeth, Neutropenia, Eclabion, Failure to thrive	OMIM:616395
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypopl...	ORPHA:2409
Scarf Syndrome	Inguinal hernia, Coronal craniosynostosis, Perineal hypospadias, Micropenis, Short sternum, Lambd...	OMIM:312830
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestational...	ORPHA:464306
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ...	OMIM:616367
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short palm, Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Small hand, Short foot...	OMIM:241410
Desmosterolosis	Rhizomelia, Micrognathia, Generalized osteosclerosis, Patent ductus arteriosus, Gingival fibromat...	OMIM:602398
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism	ORPHA:1381
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Renal insufficiency, Pancytopenia, Micrognathia, Abnormality of the dentitio...	ORPHA:85321
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi...	ORPHA:93357
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec...	ORPHA:47
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Slender build, Narrow palate, Micropenis, Short upper lip, T...	ORPHA:364028
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam...	ORPHA:1031
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Talipes equinovaru...	OMIM:617865
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Failure to thrive, Flexion contracture of finger, Brachydactyly, Recur...	OMIM:601812
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Renal dysplasia, Short femur, Dental crowdin...	OMIM:300990
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Patent ductus arteriosus, Cleft palate, Thin vermilion border, Long philtrum, Incis...	OMIM:615502
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Digeorge Syndrome	Micrognathia, High, narrow palate, High palate, Short philtrum, Hypoplasia of the thymus, Bifid u...	OMIM:188400
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Lipodystrophy, Lymphopenia, Splenomegaly, Thrombocy...	OMIM:617591
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Urinary incontinence, Abnormality of the dentition, Micrognathia, Un...	ORPHA:476126
Cornelia De Lange Syndrome 1	Micromelia, Micrognathia, Ectopic kidney, High, narrow palate, Proximal placement of thumb, Conge...	OMIM:122470
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Fraser Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal lung l...	ORPHA:2052
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Dental malocclusion, 2-3 finger syndactyly...	OMIM:269500
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Abnormal dental morpholog...	ORPHA:568
Radial-Renal Syndrome	Absent radius, Absent thumb, Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Abnorm...	ORPHA:85408
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal agenesis, Renal hypoplasia/aplasia, Micrognathia, High, narrow palate, Joint stiffness, Cle...	ORPHA:2516
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Inguinal hernia, Omphaloc...	OMIM:247200
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Splenomegaly, Sclerosing cholangitis, Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Müllerian Aplasia And Hyperandrogenism	Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina...	ORPHA:247768
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ...	OMIM:615382
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Distal Duplication 5Q	Hypoplasia of the ulna, Brachydactyly, Hypospadias, Eczema, Craniosynostosis, Micrognathia, Cario...	ORPHA:96097
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Alg9-Cdg	Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uvula, Microretrogn...	ORPHA:79328
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Sotos Syndrome	Mandibular prognathia, Joint laxity, Abnormality of the kidney, High, narrow palate, Patent ductu...	OMIM:117550
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Osteopenia, Syndactyly, Brachydactyly, Small for gestational age, Proximal pla...	OMIM:615789
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me...	ORPHA:192
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Ehlers-Danlos Syndrome, Classic-Like	Unilateral renal agenesis, Increased connective tissue, Hiatus hernia, Atrophic scars, Vesicouret...	OMIM:606408
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Overlapping toe,...	OMIM:618975
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Eczema, Scarring alopecia of scalp, Cleft palate, Short philtrum, Acne inversa	OMIM:617337
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Wide mouth, Enamel hypoplasia, Failure to thrive, Bifid uvula	OMIM:615802
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Skin rash, Osteolysi...	ORPHA:35687
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Clubbing, Bronchiectasis, Weight loss, Keratoconjunctivitis sicc...	ORPHA:79128
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Int...	OMIM:127550
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Osteomal...	OMIM:309000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, C...	ORPHA:457284
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Tarsal syno...	ORPHA:1307
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te...	OMIM:248370
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Short palm, Micropen...	OMIM:268310
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus...	ORPHA:505248
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	ORPHA:280365
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Prolidase Deficiency	Hepatomegaly, Eczema, Micrognathia, Hyperimidodipeptiduria, Splenomegaly, Thrombocytopenia, Recur...	OMIM:170100
Cockayne Syndrome A	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas...	OMIM:216400
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Leukocytosis, Clubbing of fingers, Conjunctivitis, ...	OMIM:191900
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Long fingers, Abnormality of dental eruption, Hip dislocation,...	ORPHA:96092
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Prolidase Deficiency	Hepatomegaly, Recurrent cystitis, Arachnodactyly, Micrognathia, Carious teeth, Splenomegaly, Crus...	ORPHA:742
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Micrognathia, Short hallux, Stage 2 chronic...	OMIM:620305
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ...	OMIM:618963
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Martsolf Syndrome 2	Cataract, Hypogonadotropic hypogonadism, Developmental cataract	OMIM:619420
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate...	ORPHA:464311
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Abnormal morphology...	ORPHA:93
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Nephrolithiasis, Joint hyperflexi...	ORPHA:2067
Schimke Immunoosseous Dysplasia	Osteopenia, Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Thrombocyt...	OMIM:242900
Immunodeficiency 27A	Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocy...	OMIM:209950
Cataract 47	Microcornea, Cataract	OMIM:612018
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia	ORPHA:363741
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ne...	OMIM:616738
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, M...	OMIM:145420
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Tapered finger, Seborrheic derma...	OMIM:301072
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Poikiloderma With Neutropenia	Joint laxity, Skin rash, Micrognathia, Carious teeth, Joint stiffness, Splenomegaly, Recurrent pn...	OMIM:604173
Gaucher Disease	Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent f...	ORPHA:355
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Hyperphosphaturia, Recurrent fractures, Abnormal toe mor...	OMIM:163200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Cleft p...	ORPHA:2237
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpho...	ORPHA:2363
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu...	ORPHA:464329
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal...	ORPHA:659
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Lymphopenia, Abnormal dental morphology, Abnormal o...	ORPHA:2136
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr...	ORPHA:235
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Inguinal hernia, Exaggerated cupid's bow, Camptodactyly of finger, Arachnodact...	ORPHA:2215
Penoscrotal Transposition	Renal agenesis, Hypospadias, Micrognathia, Abnormality of the urethra, Penoscrotal transposition,...	ORPHA:2842
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Hypophosphaturia, Dental malocclusion, Localized hypoplas...	ORPHA:73223
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Carious teeth, Flexion contracture, Osteolysis, Oliguria, Arthritis, Narrow ...	ORPHA:220393
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Hig...	OMIM:607812
Dent Disease	Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa...	ORPHA:1652
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Arachnodactyly, Chronic kidney disease, O...	ORPHA:261222
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Bowing of the long bones, Lipodystrophy, Increased adipose ti...	ORPHA:199276
Poems Syndrome	Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss...	ORPHA:2905
Satoyoshi Syndrome	Hypoplasia of the uterus, Amenorrhea	OMIM:600705
Williams Syndrome	Osteopenia, Hypoplasia of penis, Micrognathia, Cardiomegaly, Abnormal tubulointerstitial morpholo...	ORPHA:904
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Hepatomegaly, Inguinal hernia, Pneumonia, Joint ...	OMIM:253200
Trisomy 9P	Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Clinodactyly...	ORPHA:236
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Axial malrotati...	OMIM:274000
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Renal malrotation, Clinodactyly, Thick vermilion border, Everted lower...	OMIM:615866
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Laryngomalacia	Abnormal tracheal morphology	OMIM:150280
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine...	OMIM:619281
Lacrimoauriculodentodigital Syndrome 2	Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Conjunctiv...	OMIM:620192
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Large for gestational age, Thrombocytopenia, Aminoaciduria, High palate, N...	OMIM:614520
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Leopard Syndrome 1	Mandibular prognathia, Hypospadias, Unilateral renal agenesis, Limited elbow movement, Cleft pala...	OMIM:151100
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Supernumerary tooth, Patent duc...	ORPHA:86818
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Small for gestation...	OMIM:268400
Kindler Epidermolysis Bullosa	Urethral stricture, Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis...	ORPHA:2908
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Re...	OMIM:615560
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Metaphysea...	OMIM:618476
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hepatomegaly, Hamartoma of tong...	OMIM:269860
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Eczema, Micrognathia, Seborrheic dermatiti...	ORPHA:369950
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia	OMIM:614381
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Cranioectodermal Dysplasia 3	Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Micrognathia, 2-4 toe syndactyly...	OMIM:614099
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gestational ag...	OMIM:260400
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Premature loss of ...	ORPHA:99843
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H...	ORPHA:2872
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Abnormality of the dentition, Nephrol...	ORPHA:93598
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Hepatomegaly, Pancytopenia, Small for gestational age, Homocystinuria, ...	OMIM:277380
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hyperextensibility at elbow, Failure to thrive in infancy, Joint hypermobility, Unilateral renal ...	ORPHA:500150
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Narrow greater sciatic notch,...	OMIM:312870
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Webbed penis, Micropenis, Fused thoracic vertebra...	ORPHA:97360
Bardet-Biedl Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis	ORPHA:110
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Neonatal death, Micropenis, Distal shortening of limbs, Syndactyly, M...	OMIM:146510
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Failure to thrive, Oral leukoplakia	OMIM:616353
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Pelvic kidney, Anemia	OMIM:617244
Schisis Association	Omphalocele, Small for gestational age, Renal agenesis, Micromelia, Congenital diaphragmatic hern...	ORPHA:63862
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosi...	ORPHA:98850
Generalized Pustular Psoriasis	Renal insufficiency, Overweight, Pustule, Leukocytosis, Cheilitis, Obesity, Uveitis, Arthritis, P...	ORPHA:247353
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Unilateral renal agenesis, Abnormal paranasal sinus morphology...	ORPHA:141099
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Small for gestational age, Unilateral renal agenesis, Patent ductus arteriosus, Neonatal death, F...	OMIM:620024
Familial Benign Copper Deficiency	Anemia, Deep philtrum, Diaphyseal thickening, Acne	ORPHA:1551
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy...	ORPHA:2962
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodacty...	ORPHA:158687
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Conjunctivitis, Chronic mucocutaneous ca...	ORPHA:36913
Porphyria, Congenital Erythropoietic	Osteopenia, Hepatomegaly, Hemolytic anemia, Erythrodontia, Splenomegaly, Red urine, Osteolysis, C...	OMIM:263700
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Cataract, Hypogonadism	OMIM:601794
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Cardiomegaly, Deep philtrum, Iron deficiency anemia, Sh...	OMIM:300855
Hallermann-Streiff Syndrome	Natal tooth, Small for gestational age, Selective tooth agenesis, Micrognathia, High, narrow pala...	OMIM:234100
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Uveitis, Reduced bone mineral density, G...	ORPHA:828
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Thin bony cortex, Dental crowding...	OMIM:309583
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatom...	OMIM:612541
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, Widely...	OMIM:266920
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia, Antecubital pterygium	OMIM:616258
Bladder Exstrophy And Epispadias Complex	Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal p...	OMIM:600057
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Folliculitis, Angular cheilitis	OMIM:167210
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobil...	ORPHA:2796
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ...	ORPHA:464
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge...	OMIM:149730
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Tracheoesophageal fistula	OMIM:189960
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia	OMIM:617802
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Weight loss, Hematuria, Leukop...	ORPHA:520
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Micrognathia, Abnormality of the dentition, High, narrow palate...	ORPHA:2108
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Small for gestational age, Splenomegaly, Elbow flexion contracture,...	OMIM:618440
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio...	OMIM:182250
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long bones, Thickened cortex of...	OMIM:269150
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa...	ORPHA:79474
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Ne...	OMIM:314390
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Large for gestation...	ORPHA:116
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Thyroiditis, Nephro...	ORPHA:39041
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly...	OMIM:309801
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Asplenia, Femoral bowing, Stillbirth, Talipes equinovarus, Cystic renal dysplasia, ...	OMIM:615415
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing, Short philtrum, High palate,...	ORPHA:798
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Recurrent skin infections, Carious teeth, Narrow mouth, Flexion contracture, Atypical scarring of...	ORPHA:89842
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia	ORPHA:83601
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Er...	OMIM:620072
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Wrist ...	ORPHA:1826
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Short ...	OMIM:135500
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi...	OMIM:232200
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Ureteral stenosis, Abnormal hemidiaphragm morphology, Pneumotho...	ORPHA:2257
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Renal agenesis, Unilater...	OMIM:308205
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Orofaci...	ORPHA:77301
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st...	OMIM:305600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen...	OMIM:301040
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Lymphopenia, Tented upper lip vermilion, Patent ductus arteriosus after pre...	OMIM:618460
Galactokinase Deficiency	Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Hyperins...	ORPHA:79237
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Abnormality of the kidney, Tapered finger, Lon...	ORPHA:521445
Fanconi Anemia, Complementation Group P	Pancytopenia, Absent thumb, Micrognathia, Short thumb, Hypoplasia of the radius, Horseshoe kidney...	OMIM:613951
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre...	ORPHA:3464
Atelosteogenesis Type I	Laryngotracheal stenosis, Multiple renal cysts, Pulmonary hypoplasia	ORPHA:1190
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Hepatoerythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Erythrodontia, Scarring, Splen...	ORPHA:95159
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio...	OMIM:215140
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Inguinal hernia, Hypospadias, Eczema, Aplastic anemia, Mic...	OMIM:223370
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Anem...	OMIM:276700
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Diamond-Blackfan Anemia 10	Macrocytic anemia, Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, Morgagni diaphr...	OMIM:613309
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas...	OMIM:133540
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Pitt-Hopkins Syndrome	Tapered finger, Hiatus hernia, Broad fingertip, Short metatarsal, Small hand, Micropenis, Wide mo...	ORPHA:2896
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, H...	OMIM:280000
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Scarring alopecia of scalp, Red-brown urine, Leukopenia, Erythroid hype...	ORPHA:79277
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid...	OMIM:143095
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Osteoporosis, Microdontia, Oral leukoplakia, Thromb...	OMIM:224230
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal th...	ORPHA:124
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Gracile Bone Dysplasia	Aniridia, Micropenis, Hypoplastic spleen, Asplenia	OMIM:602361
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Deep philtrum, Non-midli...	ORPHA:1297
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Marden-Walker Syndrome	Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, H...	ORPHA:2461
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia...	OMIM:127000
Congenital Tracheal Stenosis	Abnormal bronchus morphology, Abnormal lung morphology, Abnormal lung lobation, Abnormality of th...	ORPHA:141127
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Otitis media, Vesicoureteral reflux, Joint laxity, Hypospadias, Broad hallux, Su...	ORPHA:353281
Orofaciodigital Syndrome Type 6	Syndactyly, Failure to thrive, Mesoaxial polydactyly, Renal agenesis, Hamartoma of tongue, Microg...	ORPHA:2754
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Decreased body weight, Juvenile ...	OMIM:266270
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Cholangitis, Micrognathia, Hypersplenism...	ORPHA:731
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, Cleft lip, Preaxial polyda...	OMIM:617925
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Recurrent urinary tract infections, Abnormality ...	ORPHA:847
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
15q26 overgrowth syndrome	Mandibular prognathia, Long toe, Renal agenesis, Abnormality of the kidney, Craniosynostosis, Mic...	DECIPHER:81
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Abnormality of the dentiti...	OMIM:605822
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow...	OMIM:614204
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Micrognathia, Renal hypoplasia/aplasia,...	ORPHA:3015
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Cutaneous finger syndactyly, High palate, Bifid...	OMIM:211380
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Splenomegaly, Thrombocyt...	ORPHA:77261
Trisomy 1Q	Anophthalmia	ORPHA:261344
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Thrombocytopenia...	OMIM:617053
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Abnor...	ORPHA:3353
Barber-Say Syndrome	Delayed eruption of teeth, Failure to thrive, Wide mouth	ORPHA:1231
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Sapho Syndrome	Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s...	ORPHA:793
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Vesicoureteral reflux, Recurrent aspi...	ORPHA:2745
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Humeral pseudarthrosis, Sho...	ORPHA:2044
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad...	OMIM:613673
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Inguinal hernia, Unilateral renal agenesis, Hip dislocation, Bronchiect...	ORPHA:90348
Bnar Syndrome	Abnormal fifth toe morphology, Renal agenesis, Short lingual frenulum	ORPHA:217266
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Recurrent urinary tract infections, Inguinal hernia, Broa...	ORPHA:404448
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Osteopetrosis, Splenomegaly	OMIM:618541
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ...	OMIM:209885
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Incontinentia Pigmenti	Delayed eruption of teeth, Maculopapular exanthema, Scarring, Eosinophilia, Conical tooth, Kerati...	OMIM:308300
Autosomal Recessive Spastic Paraplegia Type 77	Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Hip dysplasia, Macrodon...	ORPHA:466722
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Enlarged ovaries, Dental crowding, Ab...	ORPHA:769
Ichthyosis, Congenital, Autosomal Recessive 11	Blepharitis, Conical primary incisor	OMIM:602400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope...	OMIM:304790
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ...	ORPHA:508
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Polysplenia,...	OMIM:200995
Weill-Marchesani Syndrome 1	Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Patent ductus arteriosus, Narrow pa...	OMIM:277600
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Eczema, Urinary re...	OMIM:617799
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Nephrocalcinosis...	ORPHA:79500
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Hypospadias, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow palate, ...	OMIM:123790
Kallmann Syndrome	Hypoplasia of penis, Renal agenesis, Recurrent fractures, Obesity, Cleft palate, Reduced bone min...	ORPHA:478
Microphthalmia, Syndromic 9	Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s...	OMIM:601186
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy...	ORPHA:2834
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Abnormal dental morphology, Recurrent skin infections, Scarring,...	ORPHA:158668
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Hypospadias, Patent ductus art...	ORPHA:1465
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Joint stiffness, Abnor...	ORPHA:3027
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Cataract	ORPHA:1069
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Horseshoe...	ORPHA:3109
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ...	ORPHA:2036
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Dental crowding, Broad hallux, S...	OMIM:614188
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Nephr...	OMIM:136140
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Ureteropelvic junction obstruction, Exaggerated cupid's bow, Vesicovaginal...	OMIM:300896
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Congenital Tracheomalacia	Bronchomalacia, Pneumonia, Anomalous tracheal cartilage, Tracheobronchomalacia, Pneumothorax, Par...	ORPHA:95430
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Trismus, Thrombocytopenia, Failure to thrive, Recurrent aspiration pn...	OMIM:230900
Beta-Thalassemia Intermedia	Osteopenia, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inad...	ORPHA:231222
Icf Syndrome	Abnormality of neutrophils, Protruding tongue, Micrognathia, Macroglossia, Umbilical hernia, Lymp...	ORPHA:2268
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Tracheal...	ORPHA:261537
Cerebrocostomandibular Syndrome	Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft palate, Mic...	OMIM:117650
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca...	OMIM:619638
Weill-Marchesani Syndrome 2	Short metacarpal, Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Patent ductus art...	OMIM:608328
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Inguinal he...	OMIM:278250
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Atopic dermatitis, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Gapo Syndrome	Hepatomegaly, Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Lon...	OMIM:230740
Meckel Syndrome, Type 1	Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Cleft upper lip, Patent d...	OMIM:249000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Patent ductus arteriosus, Stage 5 chro...	OMIM:208540
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Inguinal hernia, Micro...	OMIM:619525
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Short philtrum, Joint contracture of the 5th finger, Prominent fingertip pads, Clinod...	ORPHA:363611
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Macrodactyly, Seborrheic dermatitis, 2-4 toe syndactyly, Multiple lipomas, Foot poly...	ORPHA:276280
Fanconi Anemia, Complementation Group F	Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3 fin...	OMIM:603467
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Joint laxity, Sy...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Joint laxity, Sy...	ORPHA:353277
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Ectopic kidney, Patent ductus arteriosus, Short toe, Orofacial cl...	ORPHA:1519
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical ...	OMIM:130650
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va...	OMIM:264090
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Tracheal...	ORPHA:261552
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Aphthous ulcer, Peritonitis, Le...	OMIM:249100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Renal artery aneurysm, Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomeg...	OMIM:615688
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Calcium oxalate nephrolithias...	OMIM:259900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy...	ORPHA:2969
Hutchinson-Gilford Progeria Syndrome	Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Micrognathia, Cardiomegaly, High, narrow palate, Abn...	ORPHA:3472
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Tracheal...	ORPHA:2152
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Ectopic ki...	OMIM:227650
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Recurrent urinary tract infections, Inguinal hernia, Small for gestatio...	OMIM:613658
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Congenital diaphrag...	OMIM:200980
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragma...	ORPHA:199
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Knobloch Syndrome 2	Patent ductus arteriosus, Enamel hypoplasia, Micrognathia	OMIM:618458
Restrictive Dermopathy 1	Natal tooth, Ureteral duplication, Hypospadias, Limb joint contracture, Rocker bottom foot, Micro...	OMIM:275210
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki...	OMIM:600901
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Carious teeth, Thrombocytopenia, Ure...	OMIM:305000
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Hepatomegaly, Congenital hip dislocation, Renal agenesis, Block vertebrae, Cardiomeg...	OMIM:306955
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Ureterocele, Vesico...	OMIM:604292
Degcags Syndrome	Osteopenia, Micrognathia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High pa...	OMIM:619488
Aniridia 3	Aniridia, Cataract	OMIM:617142
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Delayed eruption of primary teeth	OMIM:300952
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Hepatosplenomegal...	OMIM:260920
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of erupt...	ORPHA:2250
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Micrognathia, Tapered finger, Throm...	OMIM:620005
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Oligodontia, Ureter...	OMIM:129900
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu...	ORPHA:293173
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa...	ORPHA:93111
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Deep philtrum, Uraciluria, High pala...	ORPHA:1675
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki...	OMIM:227645
Pentalogy Of Cantrell	Omphalocele, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Non-midline cleft lip,...	ORPHA:1335
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Prema...	ORPHA:3455
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Prominent interphalangeal joints,...	OMIM:135900
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Humeroradial synostosi...	OMIM:134780
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Oral ulcer, T lymphocytopenia, Colitis, Pustular rash, Ost...	OMIM:619381
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Proximal placement of thumb, Large for gestatio...	OMIM:229850
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of...	OMIM:261540
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Hepatomegaly, Leukocytos...	ORPHA:1304
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe...	ORPHA:169105
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi...	ORPHA:2968
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia	OMIM:246400
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Gingivitis, Periodontitis, Rectal...	OMIM:116920
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Alveolar ridge overgrowth, Corneal sca...	ORPHA:642
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Lysinuric Protein Intolerance	Hepatomegaly, Recurrent fractures, Splenomegaly, Oroticaciduria, Thrombocytopenia, Osteoporosis, ...	OMIM:222700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia	ORPHA:1101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Meacham Syndrome	Accessory spleen, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Horseshoe kidney,...	OMIM:608978
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Recurrent pneumo...	OMIM:612301
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super...	OMIM:615948
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p...	OMIM:300755
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Astigmatism, Uro...	OMIM:618820
Craniotubular Dysplasia, Ikegawa Type	Short palm, Metaphyseal dysplasia, Broad femoral neck, Thick lower lip vermilion, Broad ischia, D...	OMIM:619727
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Enlarged kidney, Cardiomegaly	OMIM:261740
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Laryngotracheal stenosis, Recurrent pneumonia, Elbow flexion contracture, Horseshoe kidney, Dista...	ORPHA:508533
Holoprosencephaly	Microphthalmia, Anophthalmia	ORPHA:2162
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Short philtrum, Conjunctivitis, Chronic otiti...	OMIM:616268
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal finger morphology, Phocomelia, Hepatomegaly, Multicystic kidn...	ORPHA:2538
Gardner Syndrome	Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke...	ORPHA:79665
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Thyroiditis, Eruption failure, Odontoma, Lipom...	ORPHA:733
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Leukocytosis, Flexion contracture, Renal hypoplasia, Genu valgum, Downturned c...	OMIM:619321
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocat...	OMIM:606170
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Patent ductus arteri...	ORPHA:138
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgna...	OMIM:601803
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Restrictive Dermopathy	Osteopenia, Natal tooth, Ureteral duplication, Multiple joint contractures, Hypospadias, Camptoda...	ORPHA:1662
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Sotos Syndrome	Ureteral duplication, No permanent dentition, Flexion contracture, Vesicoureteral reflux, Chronic...	ORPHA:821
Cerebrofacioarticular Syndrome	Hypospadias, Renal hypoplasia, Abnormal tracheal morphology, Camptodactyly, Tracheomalacia	ORPHA:314679
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, Flexion contracture, Hydronephrosis, Anomalous tracheal cartilage	ORPHA:35173
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Spl...	ORPHA:90340
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Clinodactyly ...	OMIM:619522
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Cushing Disease	Increased urinary cortisol level, Acne, Dorsocervical fat pad, Intra-oral hyperpigmentation, Leuk...	ORPHA:96253
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:564
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Peters Plus Syndrome	Cataract, Corneal opacity, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Microcornea, H...	ORPHA:709
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Broad hallux, Aplasia of the thymus, Micro...	OMIM:620186
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Iniencephaly	Omphalocele, Renal agenesis, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Oro...	ORPHA:63259
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepa...	ORPHA:797
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Cleft ...	OMIM:313850
Tetraamelia Syndrome 1	Renal agenesis, Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia, Asplenia, Cleft p...	OMIM:273395
Cardiac-Urogenital Syndrome	Accessory spleen, Penoscrotal hypospadias, Congenital diaphragmatic hernia, Patent ductus arterio...	OMIM:618280
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos	OMIM:219000
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Myhre Syndrome	Skeletal muscle hypertrophy, Laryngotracheal stenosis, Generalized muscle hypertrophy, Camptodactyly	OMIM:139210
Pfeiffer Syndrome	Tracheal cartilaginous sleeve, Bronchomalacia	OMIM:101600
Microsporidiosis	Myositis, Pneumonia, Bronchitis, Urethritis, Abnormal tracheal morphology, Bronchiolitis, Nephritis	ORPHA:2552
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Mowat-Wilson Syndrome	Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Patent ductus arteriosus, Subm...	OMIM:235730
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Charge Syndrome	Microphthalmia, Anophthalmia, Unilateral microphthalmos	OMIM:214800
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes...	ORPHA:649
Limb-Mammary Syndrome	Absent nipple, Chronic irritative conjunctivitis, Primary amenorrhea, Bilateral breast hypoplasia...	ORPHA:69085
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Block vertebrae, Cleft upper lip, Hypoplasia of the...	OMIM:164210
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Glomuvenous Malformation	Abnormal tracheal morphology	ORPHA:83454
Wolf-Hirschhorn Syndrome	Accessory spleen, Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract ...	OMIM:194190
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse...	OMIM:130050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Neu-Laxova Syndrome 1	Cryptorchidism, Bifid uterus	OMIM:256520
Okamoto Syndrome	Bifid uterus	ORPHA:2729
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Cystocele, Cognitive impairment, Uterine rupture, Uterine prolapse	ORPHA:286

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	Life Stage
Kidney - agenesis	Notum^em1(IMPC)Tcp	HOM	Early adult
Tooth - developmental dysplasia	Notum^em1(IMPC)Tcp	HOM	Early adult
Ear - inflammation	Notum^em1(IMPC)Tcp	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 Notum.

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

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
Notum^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Notum^em1(IMPC)Tcp	Exon Deletion	Mice, Tissue
Notum^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter