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Gene: Cyp27b1 MGI:1098274

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Gene Summary

Name:
cytochrome P450, family 27, subfamily b, polypeptide 1
Synonyms:
Vddr,  1alpha(OH)ase,  P450c1,  25(OH)D 1alpha-hydroxylase,  P450VD1alpha,  Cyp40,  Vdd1,  Pddr,  Cyp27b,  Cyp1,  25-hydroxyvitamin D3 1alpha-hydroxylase,  VddrI,  Cp2b

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased leukocyte cell number Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 1.00×10-05
decreased body length Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 4.40×10-26
abnormal rib morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
abnormal vertebrae morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12
abnormal humerus morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
abnormal cranium morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 7.41×10-12
increased circulating alkaline phosphatase level Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal ulna morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
abnormal bone structure Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 1.22×10-27
abnormal joint morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
decreased circulating calcium level Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating aspartate transaminase level Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.77×10-06
abnormal radius morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
decreased grip strength Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 1.71×10-13
decreased bone mineral content Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 2.44×10-34
decreased bone mineral density Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased exploration in new environment Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 3.51×10-08
abnormal pelvic girdle bone morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 2.83×10-08
abnormal tibia morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
decreased circulating phosphate level Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 3.33×10-05
increased circulating bilirubin level Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 5.02×10-06
abnormal clavicle morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
short tibia Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased locomotor activity Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 3.93×10-08
decreased total body fat amount Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 3.85×10-05
abnormal scapula morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
abnormal femur morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
abnormal fibula morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
decreased lymphocyte cell number Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 4.03×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Histopathology

Images

5 Images

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X-ray

XRay Images Hind Leg and Hip

13 Images

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Gross Pathology and Tissue Collection

Images

4 Images

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Human diseases caused by Cyp27b1 mutations

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

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

The table below shows human diseases associated to Cyp27b1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Fibular bowing, D... OMIM:264700
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Subperiosteal bone resorption, Postnatal growth retardation, Hypocalcemic seizures, Elev... ORPHA:289157

The table below shows human diseases predicted to be associated to Cyp27b1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Elevated circulating parathyroid hormone level, Flared metaphysis, Metaphyseal cuppin... OMIM:619073
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Short stature,... OMIM:612089
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Osteoporosis
Osteoporosis OMIM:166710
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Hypocalcemia, Bone cys... ORPHA:93160
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Reduced bone mineral density, Hypophosphatemic rickets, ... ORPHA:157215
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic rickets, Fibular bowing... OMIM:307800
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Short stature, Hypophosphatemia, Osteomalacia OMIM:193100
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Hypocalcemia, Growth delay, Hypophosphatemia, Osteomalacia, Bowing of the legs ORPHA:89937
Autosomal Recessive Kenny-Caffey Syndrome
Postnatal growth retardation, Hypocalcemic seizures, Calvarial osteosclerosis, Congenital hypopar... ORPHA:93324
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Difficulty walking, Fibular bowing, Enlargement of the costochondral junction, Delayed e... OMIM:600081
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Elevated circulating parathyroid hormone level, Calvarial osteosclerosis, Parathyroid... OMIM:617994
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis OMIM:608805
Spondyloepiphyseal Dysplasia, Nishimura Type
Elevated circulating parathyroid hormone level, Disproportionate short-limb short stature, Cone-s... OMIM:618618
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Fibular bowing, D... OMIM:264700
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin... OMIM:241530
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Subperiosteal bone resorption, Postnatal growth retardation, Hypocalcemic seizures, Elev... ORPHA:289157
Vitamin D-Dependent Rickets, Type 2A
Rickets, Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Fibular bowing, D... OMIM:277440
Mccune-Albright Syndrome
Abnormal femur morphology, Bone marrow hypocellularity, Ovarian cyst, Hypophosphatemia, Polyostot... ORPHA:562
Dent Disease 1
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Hypophosphatemia, Metaphys... OMIM:300009
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Short stature, Hypophosphate... OMIM:613388
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R... ORPHA:53697
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... OMIM:612462
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Progressive Familial Intrahepatic Cholestasis
Short stature, Failure to thrive, Reduced bone mineral density, Hypocalcemia ORPHA:172
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov... ORPHA:249
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Familial Isolated Hyperparathyroidism
Osteopenia, Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyperparathyr... ORPHA:99879
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia, Elevated circulating creatinine concentration, Short stature OMIM:179830
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Joint disloc... ORPHA:53
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Bowing of the long bones, Osteomyelitis, Increased sus... OMIM:166260
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Kenny-Caffey Syndrome, Type 1
Calvarial osteosclerosis, Congenital hypoparathyroidism, Slender long bone, Hypocalcemia, Decreas... OMIM:244460
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Short low... ORPHA:2501
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Elevated circulatin... ORPHA:94089
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Postnatal growth retardation, Decreased response to growth hormone stimulation test, ... OMIM:614732
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Dent Disease
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Re... ORPHA:1652
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... OMIM:179800
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac... OMIM:146300
Fanconi Renotubular Syndrome 3
Rickets, Short stature, Growth delay, Elevated circulating creatinine concentration, Bowing of th... OMIM:615605
2P21 Microdeletion Syndrome
Hypocalcemia, Nephrolithiasis, Growth delay, Failure to thrive, Hypogonadism, Cystinuria ORPHA:163693
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive, Hypokalemia, Growth delay OMIM:602722
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me... OMIM:617974
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Hypoparathyroidism, Clubbing of fingers, Hypercalciur... OMIM:156400
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Hypocalcemia, Short metacarpal, Pseudohypoparathy... OMIM:603233
Hyperparathyroidism, Neonatal Severe
Polyuria, Elevated circulating parathyroid hormone level, Calcinosis, Anemia, Hypercalciuria, Rec... OMIM:239200
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Talipes, Genu recurvatum, Scoliosis, Short metacarpal, Hypophosphat... ORPHA:2611
Hypercholanemia, Familial 1
Rickets, Failure to thrive, Increased serum bile acid concentration OMIM:607748
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Hypophosphatemia, Abnormal epiphysis morphology,... ORPHA:89936
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Fanconi Renotubular Syndrome 1
Rickets, Hypokalemia, Short stature, Hypophosphatemia, Osteomalacia OMIM:134600
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular... OMIM:156530
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Hypokalemia OMIM:267200
Short Stature, Dauber-Argente Type
Osteopenia, Postnatal growth retardation, Increased insulin like growth factor binding protein ac... OMIM:619489
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Infantile Systemic Hyalinosis
Osteopenia, Abnormality of the adrenal glands, Osteoporosis, Joint stiffness, Camptodactyly of fi... ORPHA:2176
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of ... ORPHA:1350
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypocalcemic... OMIM:241410
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Rickets, Osteopenia, Generalized aminoaciduria, Renal tubular acidosis, Hyp... ORPHA:2088
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Abnormal vertebr... ORPHA:352540
Osteogenesis Imperfecta, Type Xxii
Abnormal blood phosphate concentration, Reduced bone mineral density, Slender long bone, Bowing o... OMIM:619795
Cystinosis
Rickets, Delayed puberty, Hypokalemia, Nephrogenic diabetes insipidus, Short stature, Failure to ... ORPHA:213
Cystinosis, Nephropathic
Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Hypophosphatemia, Splenomegal... OMIM:219800
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Osteomalacia, Osteoporosis, Coxa vara, Joint stiffness, Severe short stature... ORPHA:1901
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Osteoporosis, Hyperphosphat... OMIM:612286
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... ORPHA:175
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Hypouricemia, Short stature, Glycosuria, Hyperphosphaturia, N... OMIM:616026
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... OMIM:300510
Pseudohypoparathyroidism, Type Ia
Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Short metacarpal,... OMIM:103580
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Sclerotic vertebral body, Difficulty walking, Bell-shaped thorax, Diaphyseal scler... OMIM:618476
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cholelithiasis, Short stature, Failure to thrive, Conjugated hyperbilirubinemia OMIM:211600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Short metacarpal, Hypoplastic pelvis, Abnormal epiphysis morphology, Broad palm... ORPHA:93351
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Fanconi-Bickel Syndrome
Rickets, Postnatal growth retardation, Increased serum bile acid concentration, Generalized amino... OMIM:227810
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hypokalemia, Short stature OMIM:611590
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hypoparathyroidism, Abnormality of the medullary cavity of the long b... OMIM:127000
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Osteoporosis, Female infertility, Primary ameno... OMIM:300604
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Renal phosphate wasting, Nephrolithiasis, Osteoporosis, Hyperphosphaturia, Hypophosph... OMIM:612287
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo... ORPHA:3104
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Hyperparathyroidism 4
Osteopenia, Parathyroid carcinoma, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas... ORPHA:3130
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ... ORPHA:2114
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Reduced bone mineral densit... ORPHA:243
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia, Osteomalacia OMIM:600740
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... ORPHA:432
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, L... OMIM:600969
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Hypophosphatasia
Abnormal metaphysis morphology, Irritability, Anemia, Narrow chest, Bowing of the long bones, Abn... ORPHA:436
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Spinal rigidity, Falls, Hypocalcemia, Areflexia of lower limbs, Elevat... OMIM:615883
Opsismodysplasia
Short long bone, Flat acetabular roof, Short metacarpal, Hypoplastic ischia, Hypoplastic vertebra... OMIM:258480
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Hypocalcemia, Pseudohypopa... ORPHA:94090
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Short stature, Hepatosplenomegaly, Splenomegaly, Primary amen... OMIM:612526
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Anemia, Calvarial osteosclerosis, Flared metaphysis, Hypocalcemia,... OMIM:259700
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic... OMIM:620076
Eiken Syndrome
Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib... ORPHA:79106
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Multiple Endocrine Neoplasia Type 1
Adrenocortical abnormality, Reduced bone mineral density, Neoplasm of the pancreas, Pheochromocyt... ORPHA:652
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Jo... ORPHA:85198
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Recurrent fractures, Abnormal finger morphology, Precocious... OMIM:163200
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Hypophosphatemic rickets, Medullary nephrocalcinosis, Short stature, Hyperphosphatur... OMIM:613312
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Hypocalcemia... OMIM:606407
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:203330
Sanjad-Sakati Syndrome
Postnatal growth retardation, Hypoparathyroidism, Congenital hypoparathyroidism, Hypocalcemia, Se... ORPHA:2323
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Failure to thrive,... OMIM:616963
Infantile Sialic Acid Storage Disease
Osteopenia, Abnormal foot morphology, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilir... OMIM:269920
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Reduced bon... ORPHA:90796
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hor... OMIM:614837
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bo... ORPHA:93307
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypercalciuria, Hypocalce... ORPHA:2239
Slc35A2-Cdg
Osteopenia, Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Inability to... ORPHA:356961
Zollinger-Ellison Syndrome
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... ORPHA:913
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Distal Renal Tubular Acidosis
Reduced bone mineral density, Decreased glomerular filtration rate, Renal potassium wasting, Prox... ORPHA:18
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Ovarian Dysgenesis 5
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:617690
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Oculoskeletodental Syndrome
Hypercalciuria, Hypocalcemia, Elbow flexion contracture, Mucopolysacchariduria, Renal agenesis, H... OMIM:618440
Pseudohypoparathyroidism Type 1C
Short metacarpal, Short 4th metacarpal, Decreased response to growth hormone stimulation test, Re... ORPHA:79444
Oculoskeletodental Syndrome
Hypocalcemia, Scoliosis, Hyperlordosis, Thoracic kyphosis, Enamel hypoplasia, Hypoplasia of the c... ORPHA:557003
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga, Abnormality of the vertebral column OMIM:191420
Progressive Osseous Heteroplasia
Limitation of joint mobility, Ectopic ossification in muscle tissue, Osteoarthritis, Brachydactyl... ORPHA:2762
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... OMIM:612964
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Limitation of joint mobility, Osteoporosis ORPHA:3294
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... OMIM:618883
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar s... ORPHA:71289
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Autoimmune hypoparathyroidis... ORPHA:36913
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Medulla... OMIM:162300
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:614129
Hypophosphatasia, Infantile
Irritability, Anemia, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Elevated plas... OMIM:241500
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Hypocalcemia, Decreased skull ossification, Short stature, ... OMIM:602361
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Celiac Disease, Susceptibility To, 1
Rickets, Delayed puberty, Postnatal growth retardation, Hypocalcemia, Thyroiditis, Osteoporosis, ... OMIM:212750
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Short stature, Failure to thrive, Bone marrow... OMIM:619151
Estrogen Resistance
Delayed puberty, Osteopenia, Increased circulating osteocalcin level, Hyperinsulinemia, Breast ap... OMIM:615363
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Failure to thrive, Type I diabetes mellitus, Osteoporosis OMIM:560000
Idiopathic Congenital Hypothyroidism
Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Neonatal hyperb... ORPHA:95717
Dent Disease 2
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... OMIM:300555
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ovarian Dysgenesis 6
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... OMIM:618078
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Hypocalcemia, Autosomal Dominant 1
Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,... OMIM:601198
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Short stature, Failure to thrive, Slender build, Slender long bones with narrow diaph... ORPHA:50811
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Infertility, Osteoporosis, Female hypogonadism, Oligomenorr... ORPHA:397685
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ... OMIM:605274
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Reduced bone minera... ORPHA:2235
Estrogen Resistance Syndrome
Osteopenia, Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnorm... ORPHA:785
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e... ORPHA:950
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Autosomal Dominant Kenny-Caffey Syndrome
Postnatal growth retardation, Hypocalcemic seizures, Calvarial osteosclerosis, Abnormal circulati... ORPHA:93325
Aromatase Deficiency
Osteopenia, Male infertility, Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postp... ORPHA:91
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Rickets, Abnormality of thyroid physiology, Hypokalemia, Growth... ORPHA:411629
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Renal a... ORPHA:247768
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Genu valgum, Hypophosphatemia OMIM:618913
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Broad femoral neck, Abnormality of the hand, Difficulty walking, Hump-shaped mound of bone in cen... ORPHA:99642
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Neoplasm of the adrenal cortex, Growth delay... ORPHA:163634
Malaria
Anemia, Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia... ORPHA:673
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ... OMIM:612447
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Postnatal growth retardation, Hyperbilirubinemia, Abnormal serum bile acid concentration... ORPHA:79303
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Pseudohypoparathyroidism Type 1A
Reduced bone mineral density, Short metacarpal, Short 4th metacarpal, Decreased response to growt... ORPHA:79443
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hypocalcemia, Growth delay, Splenomegaly ORPHA:100025
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Thymic Neuroendocrine Tumor
Osteopenia, Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thym... ORPHA:97289
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Decreased circulating... OMIM:146200
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Femoral bowing, Flat acetabular roof, Short long bone, Pectus excav... OMIM:608728
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Lowe Oculocerebrorenal Syndrome
Pathologic fracture, Joint hypermobility, Stage 5 chronic kidney disease, Hip dislocation, Ricket... OMIM:309000
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finge... OMIM:614851
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Hypocalcemia, Short ribs, ... OMIM:607143
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... ORPHA:1159
Osteopetrosis, Autosomal Recessive 5
Irritability, Hip subluxation, Cranial hyperostosis, Anemia, Hypochromic microcytic anemia, Osteo... OMIM:259720
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... ORPHA:398063
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi... OMIM:101800
Ring Chromosome 10 Syndrome
Sandal gap, Hypocalcemia, Pectus excavatum, Micrognathia, Short neck, Tapered finger ORPHA:1438
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency, Subperiosteal bone formation, Osteoscle... OMIM:609993
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Barrel-shaped chest, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density... OMIM:239000
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Abnormal circulating... OMIM:615923
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Thyroid C cell hyperplasia, Pri... ORPHA:653
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Failure to thrive, Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Hypomagnesemia 3, Renal
Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevat... OMIM:248250
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Frasier Syndrome
Ambiguous genitalia, male, Glomerulopathy, Focal segmental glomerulosclerosis, Male pseudohermaph... ORPHA:347
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Joint stif... ORPHA:166011
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Genu valgum, Broad femoral head, Shallow acetabular fos... OMIM:620639
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla... ORPHA:971
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... ORPHA:1803
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Delayed ossification of carpal bones, Decreased body weight, Short ... OMIM:618392
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Kyphosis, Cognitive impairment, Jo... ORPHA:582
Grant Syndrome
Abnormal cortical bone morphology, Joint dislocation, Narrow chest, Joint hypermobility, Abnormal... ORPHA:2097
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Atelosteogenesis Type Iii
Short tubular bones of the hand, Abnormal cervical curvature, Thoracic hypoplasia, Absent radius,... ORPHA:56305
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Infantile Myofibromatosis
Abnormal metaphysis morphology, Bone cyst, Limitation of joint mobility, Hypercalcemia, Osteolysi... ORPHA:2591
Smith-Mccort Dysplasia 1
Short metacarpal, Kyphosis, Iliac crest serration, Metaphyseal irregularity, Genu varum, Irregula... OMIM:607326
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Frontotemporal dementia, Paget disease of bone, Scapular winging, Abnormal pelvic girdle bone mor... OMIM:167320
Femoral-Facial Syndrome
Abnormal fibula morphology, Inguinal hernia, Scoliosis, Vertebral segmentation defect, Abnormal p... ORPHA:1988
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Platyspondyly, Short metatarsal, Enlarg... OMIM:271650
Juvenile Nephropathic Cystinosis
Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch... ORPHA:411634
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Abnormal fallopian tube morphology, Hypocalcemia, Abnormal renal mo... ORPHA:1655
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Premature epimetaphyseal fusio... ORPHA:85435
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho... ORPHA:3337
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:271700
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Anemia, Talipes equinovarus, Single transverse palmar crease, Elevated ... OMIM:619743
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Hip osteoarthritis, Knee osteoarthritis, Abnormal femora... ORPHA:2619
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia ORPHA:405
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:168558
Parathyroid Carcinoma
Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Testicu... ORPHA:143
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... ORPHA:289548
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Anemia, Abnormal vagina morphology, Hypercalcemia, Thrombocytopenia, Re... ORPHA:2123
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner... ORPHA:47159
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hypercholanemia, Familial, 2
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... OMIM:201170
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delayed epiphyseal ossificatio... ORPHA:166024
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Arthritis, Abnormality of the tonsils, Abnormality of the lymphatic system,... ORPHA:47
Microcephaly-Micromelia Syndrome
Narrow chest, Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing rib... OMIM:251230
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplasia/hypoplasia of the femur, Abnormal circulating calcium-phosphate regulating hormone concen... ORPHA:2636
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Platyspondyly, Joint ... OMIM:618395
Camurati-Engelmann Disease
Abnormal femur morphology, Hyperlordosis, Kyphosis, Leukopenia, Splenomegaly, Ataxia, Craniofacia... ORPHA:1328
Familial Isolated Hypoparathyroidism
Short stature, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparat... ORPHA:2238
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia, Hyperparathyroidism ORPHA:2668
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology, Craniofacial hyperostosis ORPHA:1513
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Occipital Horn Syndrome
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ... ORPHA:198
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... ORPHA:321
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes, Cubitus v... ORPHA:1836
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... OMIM:612885
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki... ORPHA:2237
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,... OMIM:151210
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Hypocalcemia, Short stature, Hypothyroidism, Brachydactyly, Short distal phal... ORPHA:1563
Wilson Disease
Splenomegaly, High nonceruloplasmin-bound serum copper, Joint hypermobility, Decreased circulatin... OMIM:277900
Pseudopseudohypoparathyroidism
Short metatarsal, Short metacarpal, Osteoporosis, Short stature, Pseudohypoparathyroidism, Obesit... OMIM:612463
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem... OMIM:256050
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Delayed cranial suture closure, Delayed proxima... ORPHA:95716
Hyperparathyroidism-Jaw Tumor Syndrome
Thyroid carcinoma, Elevated circulating parathyroid hormone level, Testicular neoplasm, Osteoporo... ORPHA:99880
Mucopolysaccharidosis, Type Iva
Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Joint hypermobili... OMIM:253000
Adrenal Hypoplasia, Congenital
Renal salt wasting, Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious... OMIM:300200
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the... OMIM:194072
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Short stature OMIM:268315
Neu-Laxova Syndrome
Rickets, Osteopenia, Osteoporosis, Flexion contracture, Hypogonadism, Osteomalacia, Arthrogryposi... ORPHA:2671
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Schneckenbecken Dysplasia
Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Th... OMIM:269250
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormal ilium morphology, Bilate... ORPHA:163665
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Narrow chest... ORPHA:667
Hypophosphatasia, Childhood
Waddling gait, Elevated plasma pyrophosphate, Rachitic rosary, Craniosynostosis, Bowing of the legs OMIM:241510
Kniest Dysplasia
Tibial bowing, Pectus excavatum, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped f... OMIM:156550
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... OMIM:208500
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed puberty, Absence of secondary sex characteristics, Reduced bone mineral density, Osteopor... ORPHA:2410
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Pectus excavatum, Short humerus, Short distal phalanx of ... OMIM:218330
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Short neck, Abnormal morphology of ulna, Abnormal metacarpal morphology ORPHA:2233
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short lon... OMIM:618728
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial... ORPHA:85450
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteoporosis, Growth delay, Weight loss, Osteomalacia ORPHA:309031
Premature Ovarian Failure 22
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... OMIM:620548
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Brea... ORPHA:2232
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Bell-shaped t... OMIM:616300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Coxoauricular Syndrome
Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ... ORPHA:1508
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, ... ORPHA:90362
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin... OMIM:602271
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit... OMIM:610967
Raine Syndrome
Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Pectus ex... OMIM:259775
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno... ORPHA:1426
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab... ORPHA:1106
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Joint s... ORPHA:534
Calciphylaxis
Secondary hyperparathyroidism, Hyperphosphatemia, Ectopic ossification ORPHA:280062
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc... ORPHA:968
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Urogenital... OMIM:273250
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Mucolipidosis Type Iii
Reduced bone mineral density, Abnormal hip bone morphology, Craniofacial hyperostosis, Large ilia... ORPHA:577
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Renal salt wasting, Hyperkalemia, Abnormal circulating renin, Congenital hypothyroidism, Precocio... OMIM:614736
Addison Disease
Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Type I ... ORPHA:85138
Woodhouse-Sakati Syndrome
Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hypoplasia of... ORPHA:3464
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia... ORPHA:3320
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Small for gestational age, Hypocalcemia, Uncon... OMIM:613658
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... ORPHA:96334
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Anemia, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Aminoaciduria, Renal Fanco... ORPHA:436271
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Conjugated hyperbiliru... OMIM:620010
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Short ... OMIM:601076
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal thorax morphology, Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia OMIM:200900
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Scoliosis, Recurrent fractures, Pectus excavatum, Kyphosis, Decr... OMIM:259440
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... ORPHA:1427
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Abnormal form of the vertebral b... ORPHA:1486
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... OMIM:112350
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab... ORPHA:970
Crigler-Najjar Syndrome Type 1
Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Cachexia, Splenomegaly, Abnormal blood ion concentration, Ty... ORPHA:37042
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase... OMIM:618660
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Abnormal metaphysis morphology, Flat capital femoral epiphysis, Broad femoral neck, F... ORPHA:157965
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Congenital hip dislocation, Epiphyseal dysplas... OMIM:617913
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Joint hypermobility, Abnormality of the ovary, Hypogonadism ORPHA:1875
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ... ORPHA:543
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactiv... OMIM:620632
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortic... OMIM:620366
46,Xy Sex Reversal 4
Gonadal dysgenesis, Distal symphalangism, Hypoplastic labia majora, Hypergonadotropic hypogonadis... OMIM:154230
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Ataxia, Wormian bones, Broad palm, Short ... OMIM:300232
Rhizomelic Chondrodysplasia Punctata, Type 5
Pes cavus, Swan neck-like deformities of the fingers, Broad-based gait, Metaphyseal cupping, Narr... OMIM:616716
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Hypokalemia, Clubbing of fingers, Hypocalcemia, Clubbing, Hypomagnesemia OMIM:175500
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Platyspondyly, Bell-shaped thorax, Crumpled long bones, Recurren... OMIM:166210
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Wolcott-Rallison Syndrome
Difficulty walking, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Hy... ORPHA:1667
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Shor... OMIM:620306
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Anemia, Glycosuria, Hyperphosphaturia, Failure to thrive, Proteinuria, Aminoaciduria, Renal Fanco... OMIM:220110
Hemochromatosis, Type 3
Anemia, Arthritis, Impotence, Increased circulating iron concentration, Lymphopenia, Elevated tra... OMIM:604250
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short long bone, Short ribs, Hypoplastic ischia, Dumbbell-shaped lo... OMIM:228520
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Ver... ORPHA:2631
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Thoracic hypoplasia, Lumb... OMIM:100800
Insulin-Like Growth Factor I Deficiency
Osteopenia, Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased body weight, ... OMIM:608747
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc... OMIM:143880
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Single transverse palmar crease, Short attention span, Osteoporos... ORPHA:73272
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp... OMIM:614524
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Kyphosis, Joint stiffness, Constricted iliac wing, Ataxia, Joint hypermobility, Co... OMIM:253010
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Bilateral single transverse palmar creases, Kyphoscoliosis, Multiple carpal ossification centers,... OMIM:143095
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Short long bone, Hyperlordosis, Thoracic hypoplasia, Metaphyse... ORPHA:93352
Orofaciodigital Syndrome Iv
Short finger, Pectus excavatum, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Microg... OMIM:258860
Desbuquois Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho... ORPHA:1425
Kyphomelic Dysplasia
Tibial bowing, Femoral bowing, Flat acetabular roof, Short metacarpal, Short humerus, Thoracic hy... OMIM:211350
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact... ORPHA:392
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Metaphyseal widening, Metaphy... OMIM:265900
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Cone-shaped epiphysis, Lon... OMIM:210720
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Inguinal hernia, Epiphyseal stippling, Scoliosis, Stippled calcification ... OMIM:222765
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper... ORPHA:140286
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... OMIM:250420
3M Syndrome
Rocker bottom foot, Hyperlordosis, Enlarged thorax, Kyphosis, Hypoplastic pelvis, Hypoplastic isc... ORPHA:2616
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Pancreatic lymphangiectasis, Hydroneph... OMIM:235255
Hydatidiform Mole
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Blue urine, Increased body weight... ORPHA:94086
Pearson Syndrome
Reticulocytosis, Bone marrow hypocellularity, Hypophosphatemia, Splenomegaly, Pancreatic fibrosis... ORPHA:699
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio... OMIM:114000
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Genetic Recurrent Myoglobinuria
Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc... ORPHA:99845
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Femoral bowing, Short metacarpal, Kyphosis, Decreased skull ossification, Multiple... OMIM:610915
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno... OMIM:617514
Lathosterolosis
Anisopoikilocytosis, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Butterfly verteb... OMIM:607330
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Hypoplastic ... ORPHA:93315
Achondrogenesis Type 1B
Narrow chest, Short thorax, Femoral hernia, Micromelia, Abnormal enchondral ossification, Abnorma... ORPHA:93298
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Leukocytosis, Hyp... ORPHA:247353
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Holzgreve Syndrome
Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti... ORPHA:2167
Achondrogenesis, Type Ia
Hypoplastic sacrum, Abnormal foot bone ossification, Broad clavicles, Abnormal hand bone ossifica... OMIM:200600
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Inguinal hernia, Osteoporosis, Bilateral talipes equinovarus, Supernumerary ribs, Finger clinodac... ORPHA:2958
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac... ORPHA:2319
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Joint hypermobility, Flared metaph... ORPHA:2502
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh... ORPHA:457395
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Butterfly vertebrae, Congenital diaphragmatic h... ORPHA:958
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Postnatal growth retardation, Maturity-onset diabetes of the young, Intrauterine growth retardati... ORPHA:254531
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, ... ORPHA:280356
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Immunodeficiency 104
Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenomegaly, T lymphocytop... OMIM:608971
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Generalized lipodystrophy, Metaphyseal striations, Conge... OMIM:608154
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... ORPHA:99429
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... OMIM:300863
Osteogenesis Imperfecta, Type X
Tibial bowing, Dentinogenesis imperfecta, Thoracic hypoplasia, Joint hypermobility, Broad ribs, F... OMIM:613848
Osteogenesis Imperfecta, Type Iii
Slender long bone, Scoliosis, Tibial bowing, Thin ribs, Kyphosis, Biconcave vertebral bodies, Dec... OMIM:259420
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Desbuquois Dysplasia 2
Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectus excavatum, Broa... OMIM:615777
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Familial Glucocorticoid Deficiency
Renal salt wasting, Hyperkalemia, Azoospermia, Recurrent urinary tract infections, Decreased circ... ORPHA:361
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Single transverse palmar crease, 2-3 toe s... OMIM:617866
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype... OMIM:619868
Timothy Syndrome
Hypocalcemia, Cutaneous syndactyly OMIM:601005
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Platyspondyly, Femoral bowing, Thoracic kyphosis, Broad thumb, ... OMIM:619638
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Mycetoma
Abnormality of the hand, Vertebral compression fracture, Abnormal form of the vertebral bodies, A... ORPHA:2583
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Platyspondyly, Narrow chest, Metaphyseal cupping, Short thorax, Bowin... ORPHA:85166
Omodysplasia 1
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,... OMIM:258315
Hemochromatosis, Type 2A
Azoospermia, Arthritis, Infertility, Increased circulating iron concentration, Splenomegaly, Amen... OMIM:602390
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis,... OMIM:122860
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Deviation of finger, Short stature, Hypothyroidism,... ORPHA:1227
Double Outlet Right Ventricle
Hypoparathyroidism, Hypocalcemia, Short stature, Failure to thrive, Abnormality of cartilage of e... ORPHA:3426
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip... OMIM:210710
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me... OMIM:614856
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Platyspondyly, Vertebral compression fracture, Narrow chest, Angulated hu... OMIM:616229
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid hyp... OMIM:237800
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ... OMIM:187760
Cleidocranial Dysplasia
Decreased skull ossification, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal... ORPHA:1452
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Generalized osteosclerosis, Short... OMIM:215045
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve... OMIM:617952
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Hypokalemia, Hypocalcemia, Hyponatremia, Nephrocalcinosis, Hypomagnesemia OMIM:620152
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:2378
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Scoliosis, Tapered f... ORPHA:476126
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Short ribs, Splenomegaly, Metaphyseal irregularity, Joint hypermobi... OMIM:602557
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Asymmetry of the t... OMIM:250250
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Difficulty walking, Arthralgia of the hip, Intervertebral disk degeneration, Abnorma... ORPHA:93311
Rhabdoid Tumor
Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Hypercalcemia, Thrombocytopenia, Weight loss ORPHA:69077
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
2Q31.1 Microdeletion Syndrome
Sandal gap, Kyphosis, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal ... ORPHA:251014
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Decreased circulating androstenedione concentration, Clitoral hypertrophy, De... OMIM:201750
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Thanatophoric Dysplasia, Type I
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187600
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Craniofacioskeletal Syndrome
Clinodactyly of the 5th finger, Barrel-shaped chest, Hypocalcemia, Narrow iliac wing, Hypoplastic... OMIM:300712
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Flared metaphysis, Short greater sciatic notch, Wide-cupped costocho... OMIM:187601
Diarrhea 10, Protein-Losing Enteropathy Type
Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Hypertriglyceridemia, H... OMIM:618183
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Hypotriglyceridemia, Short long bone, Short metacarpal, Cupped ribs... ORPHA:85167
Achondrogenesis Type 1A
Narrow chest, Short thorax, Recurrent fractures, Femoral hernia, Micromelia, Abnormal enchondral ... ORPHA:93299
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Hypercalcemia, Hyper... OMIM:239199
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Hyperkalemia, Increased circulating corticosterone level, Increased circulati... OMIM:610600
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Decreased numbers of nephrons, Atretic vas ... OMIM:137920
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir... ORPHA:1788
Bacterial Toxic-Shock Syndrome
Fasciitis, Hypocalcemia, Arthritis, Abnormality of the lower limb, Confusion, Abnormality of the ... ORPHA:36234
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Inguinal hernia, Pectus exc... ORPHA:935
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Abnormal circulating thyroglobulin concentration, Delayed cranial suture closure, Att... ORPHA:90674
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne... ORPHA:1509
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... ORPHA:75508
Late-Onset Isolated Acth Deficiency
Generalized bone demineralization, Hypoparathyroidism, Decreased circulating ACTH concentration, ... ORPHA:199299
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Martsolf Syndrome 1
Slender ulna, Pectus carinatum, Short metacarpal, Pectus excavatum, Broad femoral neck, Joint hyp... OMIM:212720
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Neonatal hyperbilirubinemia ORPHA:3363
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, Narrow palm, Short foot, Small hand ORPHA:177910
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Pes cavus, Equinovarus deformity, Hypocalcemia, Equinus calcaneus, Decreased patell... ORPHA:746
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proximal tubulopathy,... OMIM:229600
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Short ribs, Elbow flexion contracture, Cupped ribs, Co... ORPHA:1145
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea,... ORPHA:2795
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Short statur... OMIM:619518
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Kyphoscoliosis, Platyspondyly, Dislocated radial head, Single trans... OMIM:617425
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Femoral bowing, Recurrent fractures, Osteoporosis OMIM:126550
Blount Disease
Osteochondrosis, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the ... ORPHA:2768
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen,... OMIM:613845
Pelviscapular Dysplasia
Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplastic ilia, Congen... ORPHA:93333
Bruck Syndrome 2
Osteopenia, Platyspondyly, Inguinal hernia, Pterygium, Pectus carinatum, Femoral bowing, Elbow fl... OMIM:609220
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol... ORPHA:85184
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Anemia, Hemophagocyt... OMIM:267700
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Post-Traumatic Pituitary Deficiency
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... ORPHA:95619
Bartter Syndrome, Type 1, Antenatal
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ... OMIM:601678
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Proximal placement of thumb, Abnor... ORPHA:1488
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p... ORPHA:3082
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Scoliosis, Tibial... ORPHA:314795
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Subperiosteal bone formation, Hyperostosis, Hypercalcemia, Hyperphosphatemia, Hyperpa... OMIM:211900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyn... OMIM:263520
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin concentration, Delayed proximal femoral epiphyseal ossificati... ORPHA:90673
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Clinodactyly of the 5th finger, Ulnar bowing, Amegakaryocytic thrombocytopenia, ... OMIM:605432
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Enamel hypoplasia, Brachydactyly, Abnormal epiphysis morphology, Neutrop... ORPHA:2643
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Distal Xq28 Microduplication Syndrome
Tip-toe gait, Depression, Metatarsus adductus, Neonatal hyperbilirubinemia, Attention deficit hyp... ORPHA:293939
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Anemia, Renal tubular acidosis, Hypocalcemia, Pancytopenia, Nephrolithiasis, Eleva... ORPHA:2785
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Inguinal hernia, Increased serum beta-hexosaminidase, ... OMIM:252600
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Abnormal vertebral morphology, Anemia, Elevated circulating C-rea... ORPHA:324964
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Roifman Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Lymphadenopathy, Broad femoral head... ORPHA:353298
Gitelman Syndrome
Delayed puberty, Urinary incontinence, Neoplasm of the pancreas, Renal potassium wasting, Nocturi... ORPHA:358
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... OMIM:224120
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Platyspondyly, Narrow chest, Broad mid... OMIM:618853
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Meckel Syndrome 12
Rocker bottom foot, Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atre... OMIM:616258
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Multiple prenatal fractures, Joint hypermobility, Bowing of the legs, Rec... OMIM:301014
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Anemia, Hypospadias, Hypocalcemia, Hyperextensibility of the finger joints, 2... ORPHA:163979
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Scoliosis, Pectus excavatum, Osteoporosis... OMIM:619131
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Abnormality of the kidney, Short 4th m... ORPHA:1772
Acute Adrenal Insufficiency
Renal salt wasting, Delayed puberty, Hyperkalemia, Normocytic anemia, Hyperuricemia, Decreased fe... ORPHA:95409
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... ORPHA:2522
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Reduced bone mineral density, Hypomagnesemia ORPHA:428
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Femoral bowing, Short ribs, Pectus excavatum, Arachnodactyly... OMIM:600920
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Plat... ORPHA:168555
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Wrist flexion contr... ORPHA:800
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hypercalcemia, Parathyroid adenoma, Hyperparathyroidism, Pancreatic adenoc... OMIM:145001
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Osteopenia, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadi... ORPHA:2959
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Platyspondyly, Flared metaphysis, Short ribs, Decreased skull ossification, Decreased... OMIM:616897
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty... ORPHA:232
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Poorly ossified cervical vertebrae, Narrow chest, Tracheoma... ORPHA:140
Ivic Syndrome
Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Scoliosis... OMIM:147750
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Metopic depression, Bell-shaped thorax, Short clavicles, Abnormality of the lower lim... ORPHA:313855
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Splenomegaly, Bullet-... OMIM:252500
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Isolated Polycystic Liver Disease
Increased total bilirubin, Back pain ORPHA:2924
Bachmann-Bupp Syndrome
Attention deficit hyperactivity disorder, Hyperbilirubinemia, Clinodactyly of the 5th finger OMIM:619075
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of t... OMIM:618150
Colchicine Poisoning
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagn... ORPHA:31824
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Abnormal form of the vertebral bodies, Hyperlordosis, Deformed humeral h... ORPHA:2831
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Aplasia of the thymus, B lymphocytopenia, Failure to thrive, Lymph node hypoplasi... OMIM:602450
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Spondylolysis, Osteolysis involving bones of the lower limbs, Hyperbilirubinemia, Osteolysis invo... ORPHA:464321
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Abnormal foot morphology, Tapered toe, Long toe, Elbow flexion contracture, Elevated circulating ... OMIM:608836
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Abnor... ORPHA:2050
Craniometaphyseal Dysplasia, Autosomal Dominant
Cranial hyperostosis, Calvarial osteosclerosis, Flared metaphysis, Abnormality of the vertebral c... OMIM:123000
Becker Nevus Syndrome
Lipoatrophy, Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus... ORPHA:64755
Hijazi-Reis Syndrome
Hyperbilirubinemia, Gait disturbance, Ankle clonus OMIM:301094
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Patholo... ORPHA:221016
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog... ORPHA:2769
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An... OMIM:260660
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Calcinosis, Aplastic anemia, Anemia, ... ORPHA:221008
Granulomatous Slack Skin
Acute kidney injury, Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia ORPHA:33111
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... OMIM:104200
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... OMIM:110100
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Acromesomelic Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Joint hyp... OMIM:602875
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries, Obesity OMIM:184700
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph... ORPHA:508533
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... OMIM:619938
Myoectodermal Gonadal Dysgenesis Syndrome
Limited elbow extension, Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Bifid d... OMIM:618419
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Limited knee extension, Kyphosis, Pectus excavatum, Persistent... OMIM:304150
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Dyspareunia, Renal agenesis, Hydrocolpos, Uterus didelphys, Dysmenorrhea,... ORPHA:3411
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Back pain OMIM:174050
Microcephaly 20, Primary, Autosomal Recessive
Bilateral renal agenesis, Short stature, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidn... OMIM:617914
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Abnormal diaphysis morphology, Generalized bone demineralization, Nar... ORPHA:73230
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating... ORPHA:556037
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Splenomegaly, Lymphopenia OMIM:619164
Rhyns Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Pitu... OMIM:602152
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Neuroleptic Malignant Syndrome
Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur... ORPHA:94093
Abetalipoproteinemia
Kyphoscoliosis, Pes cavus, Decreased HDL cholesterol concentration, Distal lower limb muscle weak... ORPHA:14
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Joint stiffness, Short distal phalanx of finger, Coxa valga, Loss of subcutaneous... OMIM:248370
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Arthritis, Hypernatremia, Weight loss, Ost... OMIM:619381
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... ORPHA:2491
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Cognitive impairment, Microgn... ORPHA:2145
Mosaic Trisomy 14
Bilateral single transverse palmar creases, Narrow chest, Lower limb asymmetry, Abnormal rib morp... ORPHA:1703
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Kyphosis, Cognitive impairment, Epiphyseal dysplasia... ORPHA:583
Hennekam Syndrome
Abnormal foot morphology, Narrow chest, Hypocalcemia, Finger syndactyly, Camptodactyly of finger,... ORPHA:2136
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Postnatal growth retardation, Anemia, Renal tubular acidosis, Myoglobinuria... ORPHA:79240
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thr... OMIM:203400
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Dicarboxylic aciduria, Increased circulating free fatty acid level, Hypophosphatemia, Elevated ur... OMIM:605911
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Postnatal growth retardation, Maturity-onset diabetes of the young, Hypercholesterolemia, Small f... ORPHA:96184
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Abnormal circulating... ORPHA:556030
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Incr... OMIM:603553
Igg4-Related Thyroid Disease
Euthyroid goiter, Hypocalcemia, Thyroiditis, Sialadenitis, Thyrotoxicosis with diffuse goiter, Ab... ORPHA:64744
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Pheochromocytoma, Parathyroid hyperplasia, Carcinoid tumor, Pituitary... ORPHA:805
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Aplastic anemia, Calcinosis, Reduced bone mineral density, Anemia, Osteop... ORPHA:2909
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Broad femoral neck, Butterfly vertebrae, Rhizomelia, Camptodacty... OMIM:611209
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Pterygium, Abnormal form of the vertebral bodies, Abnor... ORPHA:2876
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Narrow chest, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Me... ORPHA:440354
46,Xy Sex Reversal 1
Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara... OMIM:400044
Osteogenesis Imperfecta, Type Xvii
Kyphoscoliosis, Reduced bone mineral density, Thin metacarpal cortices, Vertebral compression fra... OMIM:616507
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Progressive clavicular acroosteo... OMIM:608612
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Short long bone, Short metacarpal, Tibial bowing, C... OMIM:608940
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Split foot, Hip dislocation, Hypoplasia of the u... OMIM:200980
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Micrognathia, Thrombocytopenia, Conjugated hyperbilirubinemia, Hip dysplasia, Arthrogryposis mult... OMIM:208085
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Scoliosis, Coxa valga, Broad long bon... OMIM:269300
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... ORPHA:572333
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Talipes calcaneovalgus, Conjugated hyperbilirubinemia, Hip dy... OMIM:613404
Thyrotoxic Periodic Paralysis
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot... ORPHA:79102
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Irregular epiphyses, Platyspondyly, Small epiphyses, Metaphyseal striatio... OMIM:610442
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Neutropenia, Metaphyseal sclerosis, Acute myeloid leukemia, Pancyto... OMIM:260400
Osteogenesis Imperfecta
Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Abnormal f... ORPHA:666
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... OMIM:166600
Non-Functioning Paraganglioma
Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Paraganglio... ORPHA:94080
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Osteoporosis, Eunuchoid habitus, Elevat... OMIM:618187
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Genu valgum, Small pituitary gland, Osteoporosis, Decreased testicular size, Cryptorc... OMIM:614880
Cleidocranial Dysplasia 2
Osteopenia, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification o... OMIM:620099
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Osteopenia, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, S... OMIM:616723
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Inguinal hernia, Narrow chest, Hyperbilirubinemia, Metopic synostosis, S... OMIM:613610
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Iron deficiency anemia, Increased serum bile acid concentr... OMIM:616278
Antley-Bixler Syndrome
Talipes, Narrow chest, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphology, J... ORPHA:83
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Short... ORPHA:251004
Spondyloenchondrodysplasia With Immune Dysregulation
Short iliac bones, Kyphoscoliosis, Platyspondyly, Metaphyseal sclerosis, Barrel-shaped chest, Inc... OMIM:607944
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Intrauterine growth retar... OMIM:615866
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovar... ORPHA:95699
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Abnormality of the vertebral column, Generalized osteosc... OMIM:607634
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Synostosis of carpal bones, Leukocytosi... ORPHA:2307
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Spina bifida occulta, A... ORPHA:2311
Seckel Syndrome 1
Clinodactyly of the 5th finger, Talipes, Sandal gap, Cone-shaped epiphyses of the phalanges of th... OMIM:210600
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal rib morphology, Iliac crest s... ORPHA:93317
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Generalized Arterial Calcification Of Infancy
Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal calcification of the carpal bones, C... ORPHA:51608
Otopalatodigital Syndrome Type 2
Flared iliac wing, Hypoplastic frontal sinuses, Fibular aplasia, Tarsal synostosis, Abnormal meta... ORPHA:90652
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperglutaminemia, Hyperprolinemia OMIM:616299
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Palmoplantar cutis gyrata, Dislocated radial head, Pectus carinatum, Arachnodactyly, Joint hyperm... OMIM:130070
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Short clavicles, Delayed cranial suture closure, Osteolytic de... ORPHA:2457
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomal... OMIM:173800
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Cognitive impairment, Leukopenia, Splenomegaly, Thrombocytopenia, Hyp... ORPHA:64743
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Hyperlordosis, Short metacarpal, Tarsal synostosis, Inguinal hernia, Bowed hume... OMIM:272460
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circul... ORPHA:54251
Cantú Syndrome
Abnormal metaphysis morphology, Deep plantar creases, Platyspondyly, Narrow chest, Short hallux, ... ORPHA:1517
Noonan Syndrome 12
11 pairs of ribs, Proximal placement of thumb, Pectus excavatum, Spinal canal stenosis, Thrombocy... OMIM:618624
Bent Bone Dysplasia Syndrome 1
Bell-shaped thorax, Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, Decreased ... OMIM:614592
Graft Versus Host Disease
Limited elbow movement, Irritability, Dupuytren contracture, Hemophagocytosis, Hyperbilirubinemia... ORPHA:39812
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Short thorax, Hepatosplenomegaly, Ataxia, Brachydactyly, Conjugated... ORPHA:168577
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Scoliosis, 4-5 toe synd... OMIM:308050
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Erectile dysfuncti... ORPHA:465508
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Recurrent urinary trac... OMIM:613179
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis OMIM:607278
Moebius Syndrome
Radial deviation of finger, Dysdiadochokinesis, Split hand, Abnormal pelvic girdle bone morpholog... OMIM:157900
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... OMIM:176240
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac... OMIM:265000
Sillence Syndrome
Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Anemia, Renal tubular acidosis, Myoglobinuria, Increased b... ORPHA:264580
Blomstrand Lethal Chondrodysplasia
Rhizomelia, Platyspondyly, Narrow chest, Flared metaphysis, Metaphyseal cupping, Increased bone m... ORPHA:50945
Melnick-Needles Syndrome
Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat... OMIM:309350
East Syndrome
Renal salt wasting, Hypokalemia, Enuresis, Increased circulating renin level, Hypomagnesemia, Hyp... ORPHA:199343
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Arachnodactyly, Multiple renal cysts, Splenomegaly, Joint hyper... ORPHA:567
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab... ORPHA:536471
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dis... OMIM:245600
Glycogen Storage Disease Vii
Hyperuricemia, Elevated circulating creatine kinase concentration, Reticulocytosis, Increased tot... OMIM:232800
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Narrow chest, Femoral bowing, Camp... OMIM:207410
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Interstitial Cystitis
Abnormal labia morphology, Elevated circulating C-reactive protein concentration, Abnormal vagina... ORPHA:37202
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ... OMIM:146255
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Gait disturbance, Micromelia, Camptodactyly of finger, Br... ORPHA:2928
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Genu valgum, Azotemia, Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Renal hy... OMIM:619321
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Failure to thrive, Absence of lymph node germinal center, L... ORPHA:277
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sacral dimpl... OMIM:206920
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Thyroiditis, Decreased proportion of naive T... ORPHA:83471
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Increased bone mineral density, Narrow ... OMIM:265800
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Shortening of... OMIM:619135
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... OMIM:602418
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Narrow iliac wing, Thin ribs, Pectus exca... OMIM:616294
Hypermethioninemia Due To Adenosine Kinase Deficiency
Narrow foot, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia, Hy... OMIM:614300
Hurler Syndrome
Calvarial hyperostosis, Flared iliac wing, Kyphosis, Biconcave vertebral bodies, Joint stiffness,... OMIM:607014
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... OMIM:158330
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Premature ov... ORPHA:96179
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
Liver Disease, Severe Congenital
Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leukopenia, Splenomegaly, Jo... OMIM:619991
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Achondrogenesis, Type Ii
Short tubular bones of the hand, Abnormal foot morphology, Barrel-shaped chest, Hypoplastic iliac... OMIM:200610
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Metaphyseal cupping ... ORPHA:163966
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Postnatal growth retardation, Clinodactyly of the 5th finger, Hypospadias, Bifid scr... ORPHA:397590
Cholera
Irritability, Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Palmopla... ORPHA:173
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Inguinal hernia, Splenic cyst, Narrow chest, Thin ribs,... OMIM:618188
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Delayed closure of the anterior fontanelle, Abnormal cortical bone morphology... OMIM:614886
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio... OMIM:302960
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... ORPHA:73224
Osteoglophonic Dysplasia
Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Craniosynostosis, Broad palm, ... OMIM:166250
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Nievergelt Syndrome
Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomeli... OMIM:163400
Peroxisome Biogenesis Disorder 5A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Cubitus valgus, Epiphyseal stippl... OMIM:614866
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, ... ORPHA:2180
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia, Umbilical hernia ORPHA:95715
Immunodeficiency 43
Hypoplasia of the ulna, Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating b... OMIM:241600
Nasu-Hakola Disease
Abnormal epiphysis morphology, Bone cyst, Reduced bone mineral density, Limitation of joint mobility ORPHA:2770
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, ... OMIM:264350
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Finger syndactyly, Long palm, Scoliosis, Pectus excavatum, Kyphosis, Hemiatrophy... ORPHA:2215
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Platyspondyly, Vertebral compression fra... OMIM:231070
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Femoral bowing, Split ... ORPHA:1860
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... ORPHA:94059
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Short clavicles, Hy... OMIM:169550
Grant Syndrome
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Reduced haptoglobin level, Anemia, Hyperbilirubinemia, Anemia of inadequate p... OMIM:613673
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycy... ORPHA:79085
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Osteopenia, Lateral displacement of the femoral head, Anemia, Talipes... OMIM:242900
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Pterygium, Elbow dislocati... ORPHA:93329
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level, Short stature, Failure to thrive, Nephrocalcinosi... ORPHA:320
Microphthalmia, Syndromic 9
Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Cryptorchidism, Short stature, Renal hyp... OMIM:601186
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen... OMIM:616860
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Multiple joint dislocation, Hyperlordosis, Internally rotated shoulders, Joint hypermobility, Tip... OMIM:619503
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Hypoth... OMIM:188400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Bowed humerus, Short clavicles, Elbow flexion contracture, Hypop... OMIM:618022
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segm... ORPHA:1834
Xylt1-Cdg
Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Short femora... ORPHA:370930
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Xp21 Deletion Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Elevated circulating creatine kinase concentr... ORPHA:261476
Bardet-Biedl Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, H... ORPHA:110
Lead Poisoning
Delayed puberty, Cranial hyperostosis, Decreased HDL cholesterol concentration, Abnormal T cell m... ORPHA:330015
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Abnormal labia majora morphology, Decreased serum leptin, Elevated circulat... ORPHA:435660
Ataxia-Telangiectasia
Delayed puberty, Abnormal spermatogenesis, Hypoplasia of the thymus, Female hypogonadism, T lymph... OMIM:208900
Marshall Syndrome
Small distal femoral epiphysis, Small proximal tibial epiphyses, Clinodactyly of the 5th finger, ... OMIM:154780
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Pectus excavatum, Arachnodactyly, Umbilical hernia, Joi... OMIM:182212
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Scoliosis, Hemivertebrae... OMIM:212780
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Missing rib... ORPHA:2759
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Increased total iron binding capacity, Unconjugated hyperbilirubinem... OMIM:613280
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia, Short clavicles, Recurrent shoulder dislocation, Finger joint contracture, Lipodystro... OMIM:212112
Cystic Echinococcosis
Splenic cyst, Abnormality of the vertebral column, Hyperbilirubinemia, Bone cyst, Peritoneal absc... ORPHA:400
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased testicular size, Central h... OMIM:616113
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Codas Syndrome
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, Abnormal pel... ORPHA:1458
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Garg-Mishra Progeroid Syndrome
Platyspondyly, Narrow chest, Slender long bone, Thin ribs, Persistent open anterior fontanelle, M... OMIM:620601
Harderoporphyria
Reticulocytosis, Splenomegaly, Neonatal hyperbilirubinemia, Increased circulating ferritin concen... OMIM:618892
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Bilateral single transverse palmar creases, Hypoproteinemia, Clinodactyly of the 5th finger, Lymp... ORPHA:1116
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopen... OMIM:619313
Moebius Syndrome
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:570
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:300400
Multiple Myeloma
Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic s... ORPHA:29073
Hurler Syndrome
Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Abnor... ORPHA:93473
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Hyperbilirubinemi... OMIM:601775
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Joint hypermobility, Coxa valga, Genu ... OMIM:224690
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate... ORPHA:276621
Charge Syndrome
Hypoplasia of the ulna, Hypocalcemia, Scoliosis, Hemivertebrae, Lymphopenia, Absent tibia, Hand m... OMIM:214800
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Gonadal dysgenesis, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Dec... OMIM:611926
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Increased arm span, Long foot, Abnormal bone ossification, Thin metacarpal cortices, ... ORPHA:2463
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Narrow chest, Short long bone, Flat acetabular roof, Bowing of the long bones, Short... OMIM:614091
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c... ORPHA:3068
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Tibial bowing, Flexion contracture of finger, Cervical ribs, Short distal phalanx of... OMIM:601812
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror ima... OMIM:119800
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Reduced bone mineral density, Cachexia, Joint stiffness... ORPHA:1979
Autosomal Dominant Spastic Paraplegia Type 29
Pes cavus, Hyperbilirubinemia, Hernia, Hiatus hernia ORPHA:101009
Mucopolysaccharidosis Type 7
Diaphyseal undertubulation, Anterior beaking of lumbar vertebrae, Abnormal hip bone morphology, I... ORPHA:584
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion... OMIM:610682
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal rib morphology, Clu... ORPHA:1318
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Narrow chest, Flared metaphysis, Mesomelic/rhizomelic limb shortenin... ORPHA:2347
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Hemolytic anemia ORPHA:713
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum, Pectus excavatum, Arachnodactyly, S... ORPHA:536467
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Hypoplastic iliac wing, Pectus carinatum, Flared iliac wing, Joint stiffness, Spl... OMIM:253200
Tetragametic Chimerism
Clitoral hypertrophy, Ovotestis, Abnormal cellular immune system morphology, Bifid scrotum, Abnor... ORPHA:199310
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Thin ribs, Decreased calvarial ossification, Micrognathia, Brachydactyly, Cran... OMIM:618265
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short thorax, Short... ORPHA:3003
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Abnormal... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Abnormal... ORPHA:99228
Monosomy X
Delayed puberty, Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Abnormal... ORPHA:99226
Turner Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Reduced bone mineral density, Ectopic kidney, Abnormal... ORPHA:881
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Acute kidney injury, Hypocalcemia, Anuria, Nephrotic range proteinuria, Leukocytosi... ORPHA:544482
Fanconi Anemia
Abnormal femur morphology, Reduced bone mineral density, Abnormality of the upper limb, Leukopeni... ORPHA:84
Prolactinoma
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... ORPHA:2965
Aspartylglucosaminuria
Beaking of vertebral bodies, Abnormal vertebral morphology, Anterior beaking of lumbar vertebrae,... ORPHA:93
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Leukopenia,... ORPHA:2298
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Pro... OMIM:253220
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... ORPHA:730
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease, Craniosynostosis OMIM:218550
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t... ORPHA:3109
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Decreased skull ossification, Joint stiffness, ... ORPHA:1512
Hereditary Fructose Intolerance
Hypermagnesemia, Hyperuricemia, Growth delay, Hypophosphatemia, Chronic kidney disease, Renal ins... ORPHA:469
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter, Female infertility OMIM:617577
Monosomy 13Q34
Postaxial hand polydactyly, Growth delay, Obesity, Hypercalcemia, Fetal pyelectasis, Metrorrhagia... ORPHA:96168
Velocardiofacial Syndrome
Hypocalcemia, Cryptorchidism, Hypoparathyroidism, Short stature OMIM:192430
Familial Hypoaldosteronism
Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thr... ORPHA:427
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist... OMIM:609465
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Growth delay, Thrombocytopenia, Lymphopenia ORPHA:169079
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Anemia of inadequate production, Impotence, Female hypogonadism, Hypogonadi... ORPHA:91349
Hereditary Spherocytosis
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Hyperb... ORPHA:822
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Osteopenia, Slender long bone, Upper limb undergrowth, Scoliosis, Pectus ex... ORPHA:369837
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Short middle phalanx of the 4th finger, Limited pronation/supination of forearm, Hepatosp... OMIM:616738
Hereditary Pheochromocytoma-Paraganglioma
Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate... ORPHA:29072
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Parathyroid adenoma, Hypercalcem... OMIM:145980
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Primary hypothyroidism, Severe intrauterine growth retardation, Urethrovagi... OMIM:243800
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Trisomy 13
Bilateral single transverse palmar creases, Narrow chest, Scoliosis, Postaxial hand polydactyly, ... ORPHA:3378
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Micromelia, Decreased calvarial ossification, Joint hypermobility, Recur... ORPHA:2772
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia, Intrauterine growt... OMIM:615966
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Congenital diaphragmatic h... ORPHA:1120
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Failure to t... ORPHA:276
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:613090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, B lymphocytopenia, Arthritis, T lymphocytope... OMIM:601457
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Hypoplasia of the thymus, D... OMIM:617241
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Bell-shaped thorax, Normochromic anemia, Hyperhomocystinemia, Inguinal he... OMIM:614857
Adrenomyodystrophy
Short stature, Failure to thrive, Primary adrenal insufficiency, Reduced bone mineral density ORPHA:977
Multiple Pterygium Syndrome, Lethal Type
Short finger, Akinesia, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, Abnormal c... OMIM:253290
Solitary Fibrous Tumor
Hypophosphatemic rickets, Hypoinsulinemia, Vaginal neoplasm, Prostate cancer, Abnormal prostate m... ORPHA:2126
Spinocerebellar Ataxia-Dysmorphism Syndrome
Reduced bone mineral density, Spina bifida occulta, Slender long bone, Short stature, Joint hyper... ORPHA:1185
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycy... ORPHA:435651
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol... ORPHA:3242
Sclerosteosis 1
Broad clavicles, Abnormal pelvic girdle bone morphology, Cognitive impairment, Deviation of finge... OMIM:269500
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol... ORPHA:1422
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Postnatal growth retardation, Carpal bone hypoplasia, Tapered phalanx of finger, Small epiphyses,... OMIM:611717
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Glucagonoma, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... OMIM:131100
Developmental Malformations-Deafness-Dystonia Syndrome
Femoral retroversion, Scoliosis, Kyphosis, Micromelia, Hypoplastic scapulae, Mental deterioration ORPHA:79107
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Metaphyseal striations, Fractures of the long bones, P... OMIM:112250
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... OMIM:145981
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Aplasia of the pectoralis major muscle, Abnormality of the wrist, A... ORPHA:3138
Alpha-Mannosidosis, Infantile Form
Pectus carinatum, Pectus excavatum, Joint stiffness, Ataxia, Umbilical hernia, Joint hypermobilit... ORPHA:309282
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia, Leukopenia, ... ORPHA:811
Degcags Syndrome
Abnormal spleen morphology, Leukopenia, Syndactyly, Congenital hypoplastic anemia, Craniosynostos... OMIM:619488
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short 4th metacarpal, Joint dislocation, Short clavicles, Microretrognathia, Joint hypermobility OMIM:606220
Enamel-Renal Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating os... ORPHA:1031
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Br... OMIM:113300
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Madelung deformity, Radial bowing DECIPHER:58
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Elevated circulating C-reactive protein concen... OMIM:612852
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Joint hypermobility, Hypocalcemia, Emotional lability, Broad-based gait, Toe clinodac... OMIM:620330
Ogden Syndrome
Sandal gap, Pectus excavatum, Umbilical hernia, Irritability, Inguinal hernia, Scoliosis, Minimal... OMIM:300855
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Three M Syndrome 2
Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Pr... OMIM:612921
Mirage Syndrome
Hyperkalemia, Rocker bottom foot, Radial club hand, Anemia, Scoliosis, Hyponatremia, Hypoplastic ... OMIM:617053
Glucose-Galactose Malabsorption
Hematuria, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss, Renal i... ORPHA:35710
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Liver Failure, Infantile, Transient
Hypoalbuminemia, Irritability, Hyperbilirubinemia OMIM:613070
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Growth delay, Failure to thrive in infancy, Decreased proportion of CD4-positi... OMIM:619510
Codas Syndrome
Generalized joint hypermobility, Genu valgum, Proximal placement of thumb, Delayed ossification o... OMIM:600373
Mosaic Trisomy 8
Deep plantar creases, Clinodactyly of the 5th finger, Deep palmar crease, Narrow chest, Scoliosis... ORPHA:96061
Bartter Syndrome, Type 2, Antenatal
Renal potassium wasting, Increased serum prostaglandin E2, Nephrocalcinosis, Hyperaldosteronism, ... OMIM:241200
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... ORPHA:284426
Lethal Congenital Contracture Syndrome 10
Stiff neck, Narrow chest, Short long bone, Femoral bowing, Hypoplasia of the thymus, Omphalocele,... OMIM:617022
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Li... OMIM:313400
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, Abnormal cervical cu... OMIM:312150
Leopard Syndrome 1
Delayed puberty, Limited elbow movement, Unilateral renal agenesis, Hypospadias, Spina bifida occ... OMIM:151100
Autosomal Dominant Omodysplasia
Rhizomelia, Short palm, Micrognathia, Short humerus, Short 1st metacarpal, Patellar dislocation, ... ORPHA:93328
Aredyld Syndrome
Lipoatrophy, Craniofacial hyperostosis, Abnormal dental enamel morphology, Scoliosis, Abnormal pe... ORPHA:1133
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Aplasi... ORPHA:2879
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Short clavicles, Short neck, Cervical kyphosis, Tapered finger, Small hand ORPHA:401923
Van Maldergem Syndrome 1
Osteopenia, Short 4th metacarpal, Abnormal foot morphology, Sacral dimple, Narrow chest, Tracheom... OMIM:601390
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Generalized joint hypermobility, Increased susceptibility to fractures, Clinodactyly ... ORPHA:251028
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Abnormal femoral head morphology, Hyperlipidemi... ORPHA:1830
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Abnormal trabecular bone morphology... OMIM:612301
Cardiofaciocutaneous Syndrome
Genu valgum, Cubitus valgus, Deep palmar crease, Scoliosis, Pectus excavatum, Abnormal morphology... ORPHA:1340
Vipoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Hypokalemia, Adrenocortical a... ORPHA:97282
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Incr... OMIM:612780
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Kyphosis, Cognitive impairment, Ataxia, Joint hypermobility, Tip-toe gait, Irritability, Broad-ba... OMIM:619475
Bartter Syndrome Type 4
Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hypoka... ORPHA:89938
Lenz-Majewski Hyperostotic Dwarfism
Abnormal finger morphology, Kyphosis, Symphalangism affecting the phalanges of the hand, Joint hy... ORPHA:2658
Intellectual Disability, Buenos-Aires Type
Spastic gait, Reduced bone mineral density, Clinodactyly of the 5th finger, Pectus carinatum, Abn... ORPHA:3079
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... ORPHA:1797
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Cognitive im... ORPHA:2970
X-Linked Intellectual Disability, Nascimento Type
Pes cavus, Lower extremity joint dislocation, Bilateral talipes equinovarus, Clubbing of toes, Ne... ORPHA:163956
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Nonspherocytic hemolytic anemia, Reti... OMIM:235700
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Adrenocorticotropic hormone excess, Sex reversal, Hyperaldosteronism, Adrenal... OMIM:613743
Ghosal Hematodiaphyseal Dysplasia
Diaphyseal dysplasia, Increased bone mineral density, Myelofibrosis, Thrombocytopenia, Leukopenia... OMIM:231095
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Midline central nervous system lipomas, Mesomelic leg shortening, Tubulonodu... OMIM:603671
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Panniculitis, B lymphocytopenia, Broad clavicles, Reticulocytopenia, Rhizomelic arm short... ORPHA:508542
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Ulnar bowing, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing ORPHA:1765
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Eosi... ORPHA:1163
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Reduced haptoglobin level, Anemia, Short long bone, Schistocytosis, Leukopenia, Thrombocytopenia,... OMIM:301110
Congenital Insensitivity To Pain With Severe Intellectual Disability
Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under... ORPHA:453510
Bartter Syndrome, Type 3
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... OMIM:607364
Glycogen Storage Disease Xii
Normocytic anemia, Reduced haptoglobin level, Decreased erythrocyte fructose-1,6-bisphosphate ald... OMIM:611881
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Confusion, Elevated circulating creatine kinase concentration, Thromb... ORPHA:466650
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Irritability, Increased serum bile acid concentration OMIM:619685
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D... ORPHA:453533
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Hypocalcemia,... ORPHA:31826
Small Cell Carcinoma Of The Bladder
Hypercalcemia, Recurrent urinary tract infections, Dysuria, Hematuria ORPHA:284400
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... OMIM:300539
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Thyroiditis, B lymphocytopenia, T lymphocytopenia, ... OMIM:606367
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Joint dislocation, Joint stiffness, Leukopenia, Splenomegaly, Lymph... OMIM:620210
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Plantar pits, Kyphoscoliosis, Palmar pits, Vertebral wedging, ... OMIM:109400
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Narrow chest, Hypoplastic iliac wing, Pectus carinatum, Short l... OMIM:225500
Beta-Thalassemia
Cholelithiasis, Reduced bone mineral density, Hypogonadotropic hypogonadism, Abnormality of iron ... ORPHA:848
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Van Maldergem Syndrome 2
Osteopenia, Short 4th metacarpal, Hip subluxation, Sacral dimple, Inguinal hernia, Narrow chest, ... OMIM:615546
Short-Rib Thoracic Dysplasia 12
Short long bone, Short ribs, Splenomegaly, Short finger, Inguinal hernia, Short thorax, Short pal... OMIM:269860
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigment... OMIM:610489
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... OMIM:201910
Alg9-Cdg
Narrow greater sciatic notch, Enlarged kidney, Abnormal bone ossification, Rhizomelia, Flared met... ORPHA:79328
Marshall-Smith Syndrome
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Failure to thrive, Joi... ORPHA:561
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Short ribs, Hypoplastic pelvis, Split foot, Cognitive impairment... ORPHA:2092
Werner Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Osteoporosis, Short stature, Elevated hemoglo... OMIM:277700
Ppoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica... ORPHA:97278
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Talipes, Finger syndactyly, Missing ribs, Congenital hip disloca... ORPHA:1647
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Tapered toe, Talipes, Slender long bone, Shoulder flexion contracture, Scoliosis... OMIM:620369
Dystonia-Deafness Syndrome 1
Femoral retroversion, Hypoplastic scapulae, Loss of ambulation, Kyphoscoliosis OMIM:607371
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal sternum morphology, Pectus excavatum, Cognitive impairment, Symphalangism affecting the ... ORPHA:2990
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Prominent floating ribs, Pedal edema, Lymphopenia OMIM:152800
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre... ORPHA:91347
Osteootohepatoenteric Syndrome
Reduced bone mineral density, Increased serum bile acid concentration, Hypokalemia, Failure to th... OMIM:619377
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia, Pheochromocytoma, Elevated urinary norepinephrine level, Proteinuria OMIM:171420
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Reti... OMIM:266200
Osteogenesis Imperfecta, Type I
Osteopenia, Femoral bowing, Biconcave flattened vertebrae, Dentinogenesis imperfecta, Hip dysplas... OMIM:166200
Gm1 Gangliosidosis Type 1
Beaking of vertebral bodies T12-L3, Platyspondyly, Spatulate ribs, Broad long bone diaphyses, Pec... ORPHA:79255
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Bowing of... OMIM:166220
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Nonketotic hyperglycinemia, Finger syndactyly, Scoliosis, Split hand, Abnorm... ORPHA:1300
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Bardet-Biedl Syndrome 1
Abnormality of the kidney, Radial deviation of finger, Truncal obesity, Postaxial hand polydactyl... OMIM:209900
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Anemia, Panniculitis, Arthritis, Thrombocytopenia, Splenomegaly, Lipodystro... OMIM:617591
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Renal potassium wasting, Episodic hypokalemia, Nephrocalcinosis, Hypomagnesemia, Renal magnesium ... ORPHA:564178
Renal And Mullerian Duct Hypoplasia
Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,... OMIM:266810
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Hypoparathyroidism, Ch... ORPHA:231222
Congenital Erythropoietic Porphyria
Osteopenia, Scarring, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin lev... ORPHA:79277
Difference Of Sex Development-Intellectual Disability Syndrome
Hypogonadism, Reduced bone mineral density, Genu valgum, Spina bifida occulta ORPHA:2983
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Inguinal hernia, Thin ribs, Omphalocele, Long... OMIM:608149
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Irritability, 2-3 toe syndactyly, Scoliosis, Lymphopenia ORPHA:391307
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Pectus excavatum, Arachnodactyly, Paranasal sinus hypoplasia, Craniof... OMIM:300373
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, Kyphosis, Epiphyseal dysplasia, Sh... ORPHA:420794
Car T Cell Therapy-Associated Cytokine Release Syndrome
Confusion, Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Genu valgum, Reduced bone mineral density, Inguinal hernia, Abnorma... ORPHA:581
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Anemia of inadequate production, Finger aplasia... OMIM:614900
Rh Deficiency Syndrome
Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocytosis, Ret... ORPHA:71275
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short long bone, Femoral bowing, Short... OMIM:615503
Spherocytosis, Type 2
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Myhre Syndrome
Abnormal metaphysis morphology, Platyspondyly, Inguinal hernia, Craniofacial hyperostosis, Large ... ORPHA:2588
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Corticosteroid-Binding Globulin Deficiency
Anemia, Hypokalemia, Reduced circulating cortisol-binding globulin concentration, Decreased circu... OMIM:611489
Spherocytosis, Type 4
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal vertebral morphology, Scoliosis, Hand polydactyly, Micr... ORPHA:261197
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contracture OMIM:620232
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, D... OMIM:619127
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Gapo Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Asymmetry of the thorax, Abnormal f... ORPHA:2067
Enlarged Parietal Foramina
Broad thumb, Short clavicles, Craniosynostosis ORPHA:60015
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Splenomegaly OMIM:235555
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Failure to thrive, Hepatosplenomegaly, Lymphopenia, Abn... OMIM:242700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:572
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Limited elbow movement, Scoliosis, Osteolytic defects of the distal phalanges of the... OMIM:614008
Grfoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica... ORPHA:97261
Somatostatinoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima... ORPHA:97283
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Patellar hypoplasia, Abnormality of the endocrine system, Short fourth metatarsal, Pseudohypopara... ORPHA:464288
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Tip-toe gait, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyr... ORPHA:3008
Leprechaunism
Postnatal growth retardation, Enlarged kidney, Clitoral hypertrophy, Hyperinsulinemia, Hypokalemi... ORPHA:508
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Hyperaldosteronism, Increased circulating renin level OMIM:619406
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Single transv... OMIM:619297
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ... ORPHA:959
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Pes cavus, Anemia, Inguinal hernia, Broad-based gait, D... OMIM:616541
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... OMIM:607323
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal rib morphology, Microme... ORPHA:3015
Spherocytosis, Type 1
Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Popliteal Pterygium Syndrome
Spina bifida occulta, Bifid scrotum, Cutaneous finger syndactyly, Hypoplasia of the vagina, Small... OMIM:119500
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... OMIM:602522
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Short distal phalanx of finger, Increased density of long bones, Broad ribs, Long ... OMIM:269150
Cornelia De Lange Syndrome
Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Proximal placement o... ORPHA:199
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Marbach-Rustad Progeroid Syndrome
Femur fracture, Reduced bone mineral density, Short clavicles, Reduced subcutaneous adipose tissu... OMIM:619322
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, Recurrent urinary tract infections, B lymphocytopenia, T lymphocytopenia, Ly... OMIM:300755
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Hypertriglyceridemia, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bone-marr... ORPHA:275761
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypospadias, Ovotestis, Short stature, Chordee, Micropenis, Hypoplasia of t... OMIM:309801
Proteus-Like Syndrome
Hyperostosis, Polycystic ovaries, Abnormality of the parathyroid gland, Thymus hyperplasia ORPHA:2969
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Primary Ciliary Dyskinesia
Male infertility, Clubbing, Asplenia, Abnormal sperm motility, Female infertility, Polysplenia ORPHA:244
Mucopolysaccharidosis, Type Iiid
Pes cavus, Difficulty walking, Inguinal hernia, Elbow flexion contracture, Joint stiffness, Epiph... OMIM:252940
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Butterfly vertebral arch, Abnormal form o... ORPHA:52
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal... ORPHA:377
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Hypokalemia, Renal potassium wasting, Nephrocalcinosis, Hypomagnesemia, Renal magnesium... OMIM:618314
Gitelman Syndrome
Delayed puberty, Polyuria, Hypokalemia, Hypocalciuria, Renal potassium wasting, Enuresis, Increas... OMIM:263800
Autoimmune Hepatitis
Increased total bilirubin, Arthritis, Splenomegaly, Depression ORPHA:2137
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi... ORPHA:340
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Hereditary Elliptocytosis
Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Neonatal hyper... ORPHA:288
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen... OMIM:251880
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Abnormal circulating testosterone concentration, Hypokalemia, Infertility, O... ORPHA:786
Peters-Plus Syndrome
Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal ... OMIM:261540
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Osteopenia, Barrel-shaped chest, Vertebral compression fracture, Pathologic fract... OMIM:259770
Hypoplasminogenemia
Abnormal fallopian tube morphology, Nephrolithiasis, Cervicitis, Decreased level of plasminogen, ... ORPHA:722
Richards-Rundle Syndrome
Joint stiffness, Reduced bone mineral density, Hypergonadotropic hypogonadism ORPHA:1399
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... OMIM:102700
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Williams Syndrome
Abnormal circulating lipid concentration, Abnormal form of the vertebral bodies, Hyperlordosis, P... ORPHA:904
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Joint hypermobility, Craniosynostosis, Overlapping toe, Sacral dimple, Inguinal... OMIM:213980
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the pelvis, Missing ribs, Abnormal ri... ORPHA:3301
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Rhizomelia, Short long bone, Flat acetabular roo... ORPHA:263508
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproductive system morphology, En... ORPHA:797
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, Inguinal hernia, Hyperextens... OMIM:151050
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Inappropriate antidiuretic hormone secr... ORPHA:79124
Intrahepatic Cholestasis Of Pregnancy
Depression, Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Bartsocas-Papas Syndrome 1
Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent palmar c... OMIM:263650
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia ORPHA:529799
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Short neck, Thicke... ORPHA:488434
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a... OMIM:612260
Fetal Cytomegalovirus Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:294
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles, Widely patent fontanelles and sutures OMIM:168550
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Meg... OMIM:617780
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticulocytopenia, Sid... OMIM:557000
Trisomy 1Q
Congenital diaphragmatic hernia, Long foot, Short thorax, Abnormal rib morphology, Omphalocele, A... ORPHA:261344
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Clinodactyly of the 2nd finger, Hypocalciuria, Hypophosphaturia, Hypoplastic sweat gl... ORPHA:73223
Noonan Syndrome 14
Limited elbow extension, Cubitus valgus, Deep palmar crease, Pectus carinatum, Scapular winging, ... OMIM:619745
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Autoimmune hemolytic anemia ORPHA:90036
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Irritability, Hypokalemia, Leukocytosis, Unconjugated hyperbilirubinemia, Reticulocytosis, Hypona... ORPHA:90038
Catel-Manzke Syndrome
Pectus carinatum, Short metacarpal, Pectus excavatum, Ulnar deviation of the 2nd finger, Short hu... OMIM:616145
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocyto... OMIM:608885
Roberts Syndrome
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... ORPHA:3103
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... OMIM:218600
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Decreased fertility, Clitoral hypertrophy, Hyperinsulinemia, Cystic angioma... OMIM:269700
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc... OMIM:248190
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Joint hypermobility, Reduced bone mineral density, Recurrent fractures, Short stature OMIM:619115
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, ... OMIM:619802
Genitourinary And/Or Brain Malformation Syndrome
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... OMIM:618820
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto... OMIM:185000
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Joint stiffness, Ovoid thoracolumbar... OMIM:252930
Bloom Syndrome
Postnatal growth retardation, Clinodactyly of the 5th finger, Azoospermia, Growth delay, Hand pol... OMIM:210900
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Thin bony cortex, Sp... OMIM:277600
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Pes cavus, Neonatal hyperbilirubinemia OMIM:609727
Weill-Marchesani Syndrome 2
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi... OMIM:608328
Mesomelia-Synostoses Syndrome
Narrow foot, Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacar... OMIM:600383
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, T lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... OMIM:277170
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f... OMIM:174000
Vici Syndrome
Postnatal growth retardation, Elevated circulating creatine kinase concentration, T lymphocytopen... OMIM:242840
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Conjugated hyperbilirubinemia, Decreased serum zinc, Joint hypermobility, Hypoalb... OMIM:617093
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Short metacarpal, Abnormal rib ... ORPHA:3404
Schinzel-Giedion Syndrome
Stiff elbow, Tibial bowing, Short distal phalanx of finger, Overlapping toe, Hypospadias, Nephrol... ORPHA:798
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Narrow chest, Bowed humerus, Short long bone, Short humerus, Flexion contracture, Brachydactyly, ... OMIM:619479
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Abnormal pelvic gird... ORPHA:3027
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Elbow... ORPHA:3206
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Limited elbow extension, Genu valgum, Broad long bone diaphyses, Hyperlordosis, Broad metacarpals... OMIM:301066
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Clitoral hypertrophy, Hyperinsulinemia, Cystic angiomatosis of bone, Decrea... OMIM:608594
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Micrognathia, Delayed closure of ... OMIM:614887
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Inguinal hernia, Single transverse palmar crease, Prominent sternum, Wrist flexion contracture, C... ORPHA:254528
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Irritability, Chronic hemolytic anemia, Leukocytosis, Pectus excavatum, Reticulocytosis, Unconjug... OMIM:618278
Tibial Hemimelia
Absent tibia OMIM:275220
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Lethargy, Hypoalbuminemia, H... OMIM:617156
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... ORPHA:35078
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Gait imbalance, Short clavicles, Flat acetabular roof, Short femoral ne... OMIM:617159
Fructose-1,6-Bisphosphatase Deficiency
Irritability, Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Severe Congenital Nemaline Myopathy
Thin ribs, Multiple prenatal fractures, Flexion contracture, Increased connective tissue, Adducte... ORPHA:171430
Cole-Carpenter Syndrome 1
Osteopenia, Reduced bone mineral density, Coronal craniosynostosis, Short stature, Orbital cranio... OMIM:112240
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... OMIM:610755
Glucagonoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima... ORPHA:97280
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, 10 pairs of ribs, Clinodactyly of the 5th finger, 11 pairs ... OMIM:117650
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Narrow chest, Tibial bowing, Femoral bowing, Kyphosis, Mesomelia, Platyspondyly, Palm... OMIM:616482
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Abnormality of the ver... OMIM:314390
Harrod Syndrome
Abnormal shoulder morphology, Scoliosis, Abnormal pelvic girdle bone morphology, Kyphosis, Arachn... ORPHA:2115
Vacterl/Vater Association
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Finger syndactyly, Vert... ORPHA:887
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, ... ORPHA:280
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Pectus cari... ORPHA:1507
Ulnar-Mammary Syndrome
Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Absent radius, Aplasia of the 3rd meta... OMIM:181450
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hypokalemia, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hy... OMIM:613677
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Hyperbilirubinemia, Polycythemia OMIM:606812
Non-Acquired Panhypopituitarism
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... ORPHA:90695
Lissencephaly Due To Lis1 Mutation
Scoliosis, Neonatal hyperbilirubinemia ORPHA:95232
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Splenomegaly OMIM:613812
Craniotubular Dysplasia, Ikegawa Type
Diaphyseal dysplasia, Increased intervertebral space, Broad ischia, Broad femoral neck, Short pal... OMIM:619727
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... OMIM:184400
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Thor... OMIM:148050
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Pre... ORPHA:1827
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Abnormal clavicle morphology, Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrod... ORPHA:85165
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Disproportionate short-limb short stature, Intrau... ORPHA:709
Cdags Syndrome
Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, Short ribs, Kyphosi... OMIM:603116
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Osteopenia, Joint dislocation, Progressive congenital scoliosis, Inguinal hernia,... OMIM:225400
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... OMIM:619662
Biliary, Renal, Neurologic, And Skeletal Syndrome
Polydactyly, Osteopenia, Inguinal hernia, Joint hypermobility, Hyperbilirubinemia, Broad thumb, P... OMIM:619534
Restrictive Dermopathy 2
Short clavicles, Microretrognathia, Overtubulated long bones OMIM:619793
Caroli Syndrome
Liver abscess, Hyperbilirubinemia, Leukocytosis, Leukopenia, Thrombocytopenia, Conjugated hyperbi... ORPHA:480520
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Abnormality of the hand, Slender long bone, Tra... OMIM:234100
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Short attention span, Abnormal rib morphology ORPHA:280195
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Inguinal hernia, Scoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Splen... OMIM:252900
Multiple Endocrine Neoplasia, Type Iia
Pheochromocytoma, Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Para... OMIM:171400
Cholestasis, Progressive Familial Intrahepatic, 5
Hyperammonemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia OMIM:617049
Hypomagnesemia 2, Renal
Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting OMIM:154020
X Small Rings
Reduced bone mineral density, Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syn... ORPHA:96201
Chime Syndrome
Acute leukemia, Aplasia/Hypoplasia of the phalanges of the toes, Short foot, Short palm, Aplasia/... ORPHA:3474
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231580
Pheochromocytoma
Pheochromocytoma, Elevated urinary norepinephrine level, Renal artery stenosis, Hypercalcemia, Pr... OMIM:171300
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Pectus excavatum, Broad thumb, Splenomegaly, Umbilical hernia, I... ORPHA:373
Hardikar Syndrome
Irritability, Hyperbilirubinemia, Osteoporosis, Thoracolumbar scoliosis, Hepatosplenomegaly, Sple... OMIM:301068
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Hyperp... ORPHA:423
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, Arachnodactyly, Reduced bone mineral density, Abnormal hip bone morphology ORPHA:2720
Microgastria-Limb Reduction Defect Syndrome
Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly, Amelia, Ectrodactyly, A... ORPHA:2538
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Scoliosis, Cutaneous abscess, Lymphopenia, Joint hypermobi... OMIM:619752
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Tarsal synostosis, Short thorax, Abnormal dental enamel morphology,... ORPHA:85199
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo... OMIM:146510
Monosomy 9Q22.3
Polydactyly, Palmar pits, Abnormality of the vertebral column, Pectus excavatum, Kyphosis, Abnorm... ORPHA:77301
Hydrolethalus Syndrome 1
Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Omphalocele, Duplication of... OMIM:236680
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Microretrognathia ORPHA:276422
Mucopolysaccharidosis, Type Iiib
Dense calvaria, Joint stiffness, Ovoid thoracolumbar vertebrae, Splenomegaly, Progressive neurolo... OMIM:252920
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal form of the vertebral bodi... ORPHA:818
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Splenomegaly, Conjugated hyperbilirubinem... ORPHA:186
Coccidioidomycosis
Abnormal long bone morphology, Abnormal metacarpal morphology, Panniculitis, Abnormality of the v... ORPHA:228123
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Single transverse palmar crease, Unconjugated hyperbilirubinemia, Microgna... OMIM:620186
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Joint hypermobility, Slender long bone, Mandibular aplasia, Abnor... ORPHA:2554
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Pes cavus, Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology, Gait dis... OMIM:601162
Chromosome 17Q12 Deletion Syndrome
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Urethral stenosis... OMIM:614527
Trisomy 18
Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Abnormal hip bone mo... ORPHA:3380
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Cellulitis, Ly... ORPHA:486
Bartter Syndrome, Type 5, Antenatal, Transient
Polyuria, Hypokalemia, Hypercalciuria, Medullary nephrocalcinosis, Hypochloremia, Increased circu... OMIM:300971
Birt-Hogg-Dubé Syndrome
Medullary thyroid carcinoma, Parathyroid adenoma ORPHA:122
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Failure to thrive, Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Senior-Boichis Syndrome
Tubular luminal dilatation, Chronic kidney disease, Anemia, Increased total bilirubin, Renal hypo... ORPHA:84081
Sweeney-Cox Syndrome
Narrow chest, Short clavicles, 2-5 toe syndactyly, Bilateral talipes equinovarus, Prominent metop... OMIM:617746
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Fibular bowing, Barrel-shaped chest, Sandal gap, Hitchhiker thumb, Narrow c... OMIM:612651
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyper... ORPHA:251274
Malakoplakia
Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,... ORPHA:556
Myhre Syndrome
Short finger, Radial deviation of finger, Enlarged vertebral pedicles, Hypoplastic iliac wing, 2-... OMIM:139210
Neurooculorenal Syndrome
Short hallux, Micrognathia, Conjugated hyperbilirubinemia, Short 1st metacarpal, Talipes equinovarus OMIM:620305
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Neoplasm of the adrenal gland, Decreased circulating renin level, Glucocortocoid-ins... ORPHA:231625
Williams-Beuren Syndrome
Abnormal renal morphology, Early onset of sexual maturation, Nephrocalcinosis, Urethral stenosis,... OMIM:194050
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Block v... ORPHA:50
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Bro... ORPHA:2519
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:1112
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Splenomegaly, Lymphopenia, Palmar telangiectasia OMIM:613471
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Inguinal hernia, Pancytopenia, Tracheomalacia, Pectus carinatum, Lymphopenia, Umbilical h... OMIM:620654
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Inguinal hernia, Panniculitis, Single transverse ... OMIM:612541
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or act... ORPHA:447
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Difficulty walking, Calf muscle hypertrophy, Thin ribs, ... ORPHA:169189
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Pulmonary carcinoid tumor, Adrenal hyperplasia, Lymphope... ORPHA:99889
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Increased B cell count,... OMIM:620376
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Loss o... OMIM:256040
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, 11 pairs of ribs, Accessory spleen, Delayed cranial suture closure, Lymphopenia, Absence ... OMIM:620005
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia ORPHA:217390
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Inguinal hernia, Vacuolated lymphocytes, Scoliosis, Kyphosis, Joint ... OMIM:230500
Microsporidiosis
Urethritis, Adrenocortical abnormality, Prostatitis, Abnormal fallopian tube morphology, Thyroidi... ORPHA:2552
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sandal gap, Recurrent urinary tract... OMIM:251260
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Osteopenia, Large for gestational age, Lambdoidal craniosynostosis, Hydro... OMIM:615398
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c... ORPHA:3261
Caroli Disease
Liver abscess, Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia ORPHA:53035
Floating-Harbor Syndrome
Kyphoscoliosis, Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th fing... OMIM:136140
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Methylmalonic acidemia, Short attention span, Short humerus, Unsteady gait, Flexion ... ORPHA:17
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Hip dislocation, Sacral dimple, Accessory spleen... OMIM:194190
Meckel Syndrome 14
Polycystic kidney dysplasia, Aplasia of the uterus, Postaxial hand polydactyly, Bowing of the lon... OMIM:619879
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Ellis Van Creveld Syndrome
Acute leukemia, Genu valgum, Cubitus valgus, Narrow chest, Short thorax, Synostosis of carpal bon... ORPHA:289
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Kyphosis, Bilateral talipes equinovarus, Micrognathia, Ataxia, Knee flexion contract... OMIM:619708
Sotos Syndrome
Pectus excavatum, Kyphosis, Umbilical hernia, Joint hypermobility, Craniosynostosis, Inguinal her... ORPHA:821
Yunis-Varon Syndrome
Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, De... OMIM:216340
Kagami-Ogata Syndrome
Kyphoscoliosis, Bell-shaped thorax, Inguinal hernia, Limitation of joint mobility, Omphalocele, C... ORPHA:254519
Mucopolysaccharidosis Type 2, Attenuated Form
Diaphyseal undertubulation, Abnormal vertebral morphology, Inguinal hernia, Arthritis, Limitation... ORPHA:217093
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Lipoatrophy, Short humerus, Long toe, Delayed closure of the anterior fonta... OMIM:264090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Mucopolysaccharidosis Type 2, Severe Form
Diaphyseal undertubulation, Abnormal vertebral morphology, Inguinal hernia, Arthritis, Limitation... ORPHA:217085
Exstrophy-Epispadias Complex
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... ORPHA:322
Osteogenesis Imperfecta, Type Xv
Thin ribs, Scoliosis, Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Juvenile Polyposis Of Infancy
Midclavicular hypoplasia, Anemia, Clubbing of fingers, Broad phalanx of the toes, Subcutaneous li... ORPHA:79076
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophili... ORPHA:99829
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru... ORPHA:83628
Atypical Werner Syndrome
Rocker bottom foot, Delayed puberty, Hypertriglyceridemia, Reduced bone mineral density, Hypogona... ORPHA:79474
Limb-Mammary Syndrome
Clinodactyly of the 5th finger, Breast aplasia, Aplasia of the uterus, Oligodactyly, Hypoplastic ... ORPHA:69085
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Lethargy, Umbilical hernia OMIM:218700
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Tapered toe, Inguinal hernia, Rib fusion, Attentio... ORPHA:544488
Spinal Cord Injury
Urinary retention, Hypercalcemia, Urinary bladder sphincter dysfunction ORPHA:90058
Primary Hyperoxaluria
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Hyperoxaluria, Failure to t... ORPHA:416
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Preaxial polydactyly, Narrow chest, Short ribs, Micromelia, Post... OMIM:616546
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Kyphoscoliosis, Lipoatrophy, Atlantoaxial abnormality, Short humerus, Hypop... ORPHA:3455
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth... OMIM:618223
Monosomy 9P
Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Proximal placement o... ORPHA:261112
Medullary Sponge Kidney
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis ORPHA:1309
Khan-Khan-Katsanis Syndrome
Sacral dimple, Anemia, Scoliosis, Corneal scarring, Postaxial polydactyly, Micrognathia, Joint co... OMIM:618460
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Thin ribs, Elevated circulating creatine kinase concentration, Congenital co... OMIM:615368
Helix Syndrome
Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Hype... OMIM:617671
Vater/Vacterl Association
Hypoplasia of the radius, Preaxial polydactyly, Abnormal vertebral morphology, Triphalangeal thum... OMIM:192350
Disabling Pansclerotic Morphea Of Childhood
Joint contracture, Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia OMIM:620443
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal rib mor... ORPHA:2907
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD... ORPHA:760
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptod... ORPHA:2753
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Spina bifida occulta, Vesicoureteral reflux, Bifid uterus, Cro... OMIM:617466
Fanconi Anemia, Complementation Group L
Anemia, Unilateral renal agenesis, Aplasia of the uterus, Growth delay, Renal hypoplasia, Bone ma... OMIM:614083
Floating-Harbor Syndrome
Kyphoscoliosis, 11 pairs of ribs, Broad-based gait, Dislocated radial head, Short clavicles, Shor... ORPHA:2044
Aicardi Syndrome
Butterfly vertebrae, Proximal placement of thumb, Lipoma, Scoliosis, Hemivertebrae, Missing ribs,... OMIM:304050
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Long foot, Spina bifida occulta, Inguinal hernia, Tibial bowing, Chron... ORPHA:500095
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Narrow chest, Short clavicles, Short long bone, Postaxial hand polydac... OMIM:617088
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Slender long bone, Thin ribs, Ulnar deviation of the hand or of fingers of th... OMIM:208150
Dextrocardia
Abnormal foot morphology, Abnormality of the spleen, Abnormal rib morphology, Congenital hip disl... ORPHA:1666
Robinow Syndrome
Kyphoscoliosis, Mesomelic arm shortening, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Umb... ORPHA:97360
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Anemia, Finger syndactyly, Abnormal dental enamel morphology, Abnormal rib ... ORPHA:2908
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Bifid scrotum, Broad thumb, Urethral valve, Aplasia/Hypoplasia of th... OMIM:107480
Immunodeficiency 40
Growth delay, Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia OMIM:616433
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... OMIM:618849
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Fused cervical vertebrae, Inguinal hernia, Single transverse palmar crease, B lym... ORPHA:83617
Isolated Biliary Atresia
Splenomegaly, Conjugated hyperbilirubinemia ORPHA:30391
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid conc... ORPHA:567983
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Sprengel anoma... ORPHA:1394
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Single transverse palmar crease, Thin ribs, Prom... OMIM:229850
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Midclavicular aplasia, Short ribs, Short metacarpal, Split foot,... OMIM:305600
Alagille Syndrome 1
Hypertriglyceridemia, Hypoplasia of the ulna, Butterfly vertebral arch, Hemivertebrae, Abnormal r... OMIM:118450
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis, Radial bowing OMIM:617993
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Abnormal pancreas morp... ORPHA:116
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f... OMIM:258040
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Finger aplasia OMIM:276822
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Scoliosis, Short ribs, Hemivertebrae, Thin ribs, Missing ribs, Block vertebrae, ... OMIM:271520
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Short fo... OMIM:157800
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Restrictive Dermopathy 1
Rocker bottom foot, Kyphoscoliosis, Thin clavicles, Short clavicles, Osteolytic defects of the di... OMIM:275210
1P36 Deletion Syndrome
Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Delayed cranial suture closure, Sco... ORPHA:1606
Charge Syndrome
Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Talipes, Abnormality of b... ORPHA:138
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the ... ORPHA:457284
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Craniosynostosis, Bifid uterus, Syndactyly, Unilateral brachydactyly, Abnor... ORPHA:1521
Marburg Hemorrhagic Fever
Hypokalemia, Arthritis, Confusion, Hyperamylasemia, Abnormal lymphocyte morphology, Elevated circ... ORPHA:99826
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short finger, Broad finger, Asymmetry of the thorax, Short clavicles, Short fifth metatarsal, Sin... OMIM:619841
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Anemia, Panniculitis, Elevated circulating C-reactive protein concentration, Pancytopenia, Arthri... OMIM:615688
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Pancyt... OMIM:181000
Zttk Syndrome
Scoliosis, Hemivertebrae, Kyphosis, Rib fusion, Flexion contracture, Cervical ribs, Joint hypermo... OMIM:617140
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Fibular hypoplasia, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusi... ORPHA:444077
Pontine Tegmental Cap Dysplasia
Ankle clonus, Scoliosis, Hemivertebrae, Ataxia, Rib fusion, Dysmetria OMIM:614688
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Anemia, Tubulointerstitial fibrosis, Polycystic kidney dys... OMIM:243910
Primrose Syndrome
Delayed puberty, Reduced bone mineral density, Generalized osteoporosis, Short distal phalanx of ... OMIM:259050
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Neurofibromatosis, Type I
Genu valgum, Pheochromocytoma, Short stature, Parathyroid adenoma, Tibial pseudarthrosis OMIM:162200
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Short femur, Short humerus, Tapered finger OMIM:618367
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Delayed cra... OMIM:101400
Roberts-Sc Phocomelia Syndrome
Radial deviation of finger, Wrist flexion contracture, Short humerus, Absent thumb, Syndactyly, A... OMIM:268300
Hutchinson-Gilford Progeria Syndrome
Reduced bone mineral density, Short clavicles, Osteolytic defects of the distal phalanges of the ... ORPHA:740
Tetrasomy 9P
Bilateral single transverse palmar creases, Amelogenesis imperfecta, Sacral dimple, Clinodactyly ... ORPHA:3310
Pallister-Hall Syndrome
Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly affecting the 3rd... ORPHA:672
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypercalciuria, Hypouricemia OMIM:242050
Pseudo-Torch Syndrome 2
Thin ribs, Thrombocytopenia, Lethargy OMIM:617397
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Tracheomalacia, 2-3 toe syndactyly, A... OMIM:618280
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Ectopic kidney, Sandal gap, Dislocated radial head, Aplasia of the uterus, ... OMIM:135900
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Restrictive Dermopathy
Osteopenia, Thin clavicles, Thin ribs, Thoracic kyphoscoliosis, Decreased skull ossification, Str... ORPHA:1662
Okamoto Syndrome
Polydactyly, Urinary incontinence, Severe postnatal growth retardation, Ureteropelvic junction ob... ORPHA:2729
Townes-Brocks Syndrome
Abnormal foot morphology, Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal vertebral... ORPHA:857
Ehlers-Danlos Syndrome, Vascular Type
Hypermobility of distal interphalangeal joints, Osteolytic defects of the phalanges of the hand, ... OMIM:130050
Cystic Fibrosis
Male infertility, Clubbing of fingers, Hypercalciuria, Failure to thrive, Hepatosplenomegaly OMIM:219700
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Cushing Disease
Vertebral compression fracture, Memory impairment, Depression, Emotional lability, Decreased eosi... ORPHA:96253
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metatarsal, Short metacarpal, Short stature, Failure to thrive, Obesity, Pseudohypoparathyr... OMIM:617157
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Cervical ribs, Hyperextensible hand joints, Slender long bone, Hemivertebrae, Hyp... ORPHA:500150
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Anemia, Hypercalciuria, Short sta... OMIM:300990
Bladder Exstrophy And Epispadias Complex
Abnormal pelvic girdle bone morphology, Inguinal hernia OMIM:600057
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Rib f... OMIM:206900
Fraser Syndrome
Finger syndactyly, Vertebral segmentation defect, Abnormal rib morphology, Omphalocele, Limb unde... ORPHA:2052
Neu-Laxova Syndrome 1
Rocker bottom foot, Radial deviation of finger, Finger syndactyly, Calcaneovalgus deformity, Camp... OMIM:256520
Chromosome 1P36 Deletion Syndrome, Distal
Pes cavus, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis, Camptodactyly... OMIM:607872
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Neonatal hyperbilirubinemia OMIM:300896
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Coat hanger sign of ribs, Thoracic hypoplasia, Omphalocele ORPHA:254534
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Norrie Disease
Delayed puberty, Erectile dysfunction, Uterine rupture, Cachexia, Cryptorchidism, Failure to thri... ORPHA:649
Loeys-Dietz Syndrome
Camptodactyly of finger, Arachnodactyly, Joint hypermobility, Craniosynostosis, Uterine rupture ORPHA:60030
Microphthalmia, Syndromic 1
Kyphoscoliosis, Radial deviation of finger, Narrow chest, Short clavicles, Scoliosis, Prominent f... OMIM:309800
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Hypokalemia, Congenital hip dislocation, Short stature, Renovascula... ORPHA:286
Pallister-Killian Syndrome
Aplasia of the uterus, Small scrotum, Hip dislocation, Aplasia of the upper vagina, Rhizomelia, H... OMIM:601803
Pagod Syndrome
Congenital diaphragmatic hernia, Abnormal clavicle morphology, Abnormal rib morphology, Omphaloce... ORPHA:991

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Sternum - MPATH pathological process term fibro-osseous lesion Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult
Sternum - MPATH pathological process term hyperplasia Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult
Knee joint - MPATH pathological process term developmental dysplasia Cyp27b1tm1b(EUCOMM)Hmgu 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 Cyp27b1.

No publications found that use IMPC mice or data for Cyp27b1.

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
Cyp27b1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cyp27b1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cyp27b1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Cyp27b1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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