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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 circulating calcium level Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
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 vertebrae morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 2.24×10-12
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
decreased total body fat amount Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 3.85×10-05
increased circulating bilirubin level Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 5.02×10-06
decreased leukocyte cell number Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 1.00×10-05
abnormal tibia morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
decreased exploration in new environment Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 3.51×10-08
decreased circulating phosphate level Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 3.33×10-05
abnormal pelvic girdle bone morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 2.83×10-08
abnormal clavicle morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
abnormal bone structure Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 1.22×10-27
short tibia Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased locomotor activity Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 3.93×10-08
abnormal joint 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
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
increased circulating aspartate transaminase level Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.77×10-06
decreased bone mineral content Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 2.44×10-34
decreased body length Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 4.40×10-26
decreased bone mineral density Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal humerus morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
abnormal rib morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 9.26×10-13
abnormal cranium morphology Cyp27b1tm1b(EUCOMM)Hmgu HOM Early adult 7.41×10-12

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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

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Histopathology

Images

5 Images

X-ray

XRay Images Hind Leg and Hip

13 Images

Gross Pathology and Tissue Collection

Images

4 Images

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