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Gene: Nppc MGI:97369

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
natriuretic peptide type C
Synonyms:
lbab,  natriuretic peptide precursor C,  CNP

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Nppc 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.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Legg-Calvé-Perthes Disease
Cartilage destruction, Short stature ORPHA:2380
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... OMIM:605274
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Fibular aplasia OMIM:218550
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... OMIM:250460
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, Tali... OMIM:201170
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... ORPHA:2639
Omodysplasia 2
Short humerus, Dyspareunia, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular ... OMIM:164745
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... ORPHA:1788
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Unilateral cryptorchidism, Capitate-hamate fusion, 2-3 toe cutaneous ... OMIM:206920
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Otoonychoperoneal Syndrome
Hip contracture, Hypospadias, Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee f... OMIM:259780
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... ORPHA:2141
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification... ORPHA:750
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Decreased resp... ORPHA:1263
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,... ORPHA:2256
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Fibrochondrogenesis 1
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Seckel Syndrome 1
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Hyposp... OMIM:210600
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... ORPHA:93308
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... ORPHA:1423
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Male ... ORPHA:140
Short Stature, Brussels Type
Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of cartilage, Macroce... ORPHA:2867
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Osteoarthritis, Abnormality of radial epiphyses, Arthr... ORPHA:166002
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones... OMIM:271530
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Short neck, Mesomelic/rhizomelic limb shortening, ... ORPHA:2347
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased intervertebral space, ... OMIM:256050
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... OMIM:616300
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pancreatic fibrosis, Pancreatic cysts, Early ossification of capital femo... OMIM:208500
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... ORPHA:2502
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Laron Syndrome
Delayed menarche, Decreased serum insulin-like growth factor 1, Short long bone, Limb undergrowth OMIM:262500
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Thin bony cortex, Bulging epiphyses, Rickets of the lower limbs, Delaye... OMIM:600785
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly OMIM:611263
Acromicric Dysplasia
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... OMIM:102370
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,... OMIM:614326
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph... ORPHA:93351
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim... ORPHA:2204
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of... ORPHA:3344
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Diastrophic Dysplasia
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio... OMIM:222600
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Ollier Disease
Micromelia, Joint stiffness, Precocious puberty, Abnormal cartilage morphology, Osteolysis, Multi... ORPHA:296
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Aplasia of the... ORPHA:2879
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... ORPHA:2741
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Coron... OMIM:614078
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Septate vagina, Micrognathia, Wide anterior fontanel, ... OMIM:617925
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Silver-Russell Syndrome Due To 11P15 Microduplication
Relative macrocephaly, Short stature, Small for gestational age, Postnatal growth retardation, Se... ORPHA:231144
Omodysplasia 1
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Hypochondroplasia
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... OMIM:146000
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Li... ORPHA:177
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Mesomelia, Brachydactyly, Micrognathia ORPHA:1277
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Micrognathia, Missin... OMIM:200980
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Sandal gap, Small scrotum, Hypospadias, Rhizomelia, Cryptorchidism, H... OMIM:607143
Slc35A2-Cdg
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Precocious puberty, Elevated circulatin... ORPHA:356961
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... OMIM:609616
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Halberd-s... ORPHA:2635
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm... ORPHA:1837
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Long penis, Abnormal fibula morphol... ORPHA:1988
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Short... OMIM:616809
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... ORPHA:56305
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Abnormal epiph... ORPHA:2631
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormal femur mo... ORPHA:429
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... OMIM:300244
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epiphyseal ossificati... OMIM:156550
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad... OMIM:260660
Stuve-Wiedemann Syndrome 1
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx... OMIM:601559
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... OMIM:618961
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelvic girdle bone morp... ORPHA:1803
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... OMIM:151210
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges ... OMIM:113000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Metaphyseal w... OMIM:608940
Odontochondrodysplasia 1
Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Osteoporosis, Cone-shaped epip... OMIM:184260
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... ORPHA:1836
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Pseudoachondroplasia
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi... OMIM:177170
Diastrophic Dysplasia
Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place... ORPHA:628
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ... OMIM:304120
Kyphomelic Dysplasia
Bowing of the long bones, Micromelia, Micrognathia, Missing ribs, Joint stiffness, Limitation of ... ORPHA:1801
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... OMIM:276820
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Limitation of joint mobility, Micromelia, Coxa vara ORPHA:168555
Tibial Hemimelia
Absent tibia OMIM:275220
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys... ORPHA:485
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Limited elbow extension, Bowing of the legs ORPHA:156728
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... ORPHA:2839
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss... OMIM:166210
Acrocephalopolydactyly
Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly ORPHA:221054
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... OMIM:300863
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Hypoplastic ... OMIM:313400
Grant Syndrome
Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... OMIM:600081
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Relative macrocephaly, Postnatal growth retardation, Acromicria, Small hand, Obesity, Short foot,... ORPHA:254525
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ... ORPHA:2928
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s... ORPHA:63446
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Craniosynostosis, Crypto... ORPHA:93329
Larsen-Like Syndrome, Lethal Type
Neonatal death, Abnormal cartilage matrix OMIM:245650
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodies OMIM:600972
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Genu varum, Flared metaphysis, Coxa va... OMIM:602557
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, H... ORPHA:2249
Image Syndrome
Metaphyseal dysplasia, Hypospadias, Micromelia, Cryptorchidism, Hypogonadism ORPHA:85173
Weismann-Netter Syndrome
Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia... OMIM:300373
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Small for... OMIM:616229
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... ORPHA:93316
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Brachydactyly ORPHA:40
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Tarsal synostosis, Camptodactyly of finger, Micro... ORPHA:2633
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Amelia, Testicular atrophy OMIM:601163
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced ... OMIM:269250
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Cryptorchidism, Limited elbow extension, Short metatarsal, Small ha... OMIM:180870
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short tibia, Short femur, Glandular hypospadias OMIM:620306
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Hypospadias, Decreased fibu... OMIM:616897
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Kinsship Syndrome
Pes planus, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, Polydactyly, Mesomelia... OMIM:619297
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ... ORPHA:90652
Achondroplasia
Rhizomelia, Bowing of the legs, Short proximal phalanx of finger, Hip joint hypermobility, Wide a... ORPHA:15
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Shox-Related Short Stature
Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb undergrowth... ORPHA:314795
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo... ORPHA:1842
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... OMIM:300106
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormally ossified vertebrae, Sandal gap, Abnormal pelvi... ORPHA:1427
Fibrochondrogenesis 2
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh... OMIM:614524
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Hip contracture, Pes planus, Coxa valga, Micrognathia, Advanced ossification o... OMIM:618363
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Bowing of the legs, Metaphyseal widening, Delayed epiphyseal ossification, Flared m... ORPHA:93352
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... OMIM:263520
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Short foot, C... ORPHA:474
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... OMIM:250220
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... OMIM:241530
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Del... OMIM:613320
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Recurrent fractures, Micromelia, Cryptorchidism, Joint hyperflexibility, Dec... ORPHA:2772
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Advanced ossification of carpal bones, Knee dislocation, Short long bone, Small epiph... OMIM:620269
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Short long bone, Camptodactyly OMIM:619751
Achondrogenesis Type 1A
Recurrent fractures, Micromelia, Abnormal enchondral ossification, Micrognathia, Short foot, Shor... ORPHA:93299
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, C... OMIM:211750
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Odontochondrodysplasia
Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ... ORPHA:166272
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Small for gestational age, Rocker bottom foot, Recurrent fractures, Micrognathia, ... ORPHA:453510
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Lumbar h... OMIM:615777
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... ORPHA:968
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... ORPHA:56304
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300554
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Uterus di... ORPHA:2491
Meckel Syndrome, Type 9
Limb undergrowth, Ambiguous genitalia, Talipes equinovarus OMIM:614209
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Hypophosphatasia, Infantile
Micromelia, Bowing of the legs, Craniosynostosis, Increased susceptibility to fractures, Decrease... OMIM:241500
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Male pseudohermaphr... ORPHA:1422
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serr... ORPHA:168549
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Syndactyly, Decreased serum testosterone concentration, ... OMIM:305400
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormal femur morphology, Ab... ORPHA:3429
Achondrogenesis Type 1B
Micromelia, Abnormal enchondral ossification, Micrognathia, Short foot, Talipes equinovarus ORPHA:93298
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:264700
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... OMIM:163400
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Mesomelia-Synostoses Syndrome
Brachydactyly, Micromelia, Micrognathia, Abnormality of the humerus, Joint stiffness, Abnormal ti... ORPHA:2496
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Maternal diabetes, Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Smal... ORPHA:93346
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... OMIM:215140
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum, Joint hyperflexibility ORPHA:1035
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Bowing of the long bones, Congenital hip dislocation, Shoulder flexion contractu... OMIM:255800
Familial Calcium Pyrophosphate Deposition
Abnormal intervertebral disk morphology, Calcification of cartilage ORPHA:1416
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit... OMIM:224400
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, Cryptorchidism,... ORPHA:1865
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Osteoglophonic Dysplasia
Osteopenia, Short metatarsal, Short palm, Pseudoarthrosis, Short phalanx of finger, Broad metacar... OMIM:166250
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Hall-Riggs Syndrome
Joint stiffness, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology,... ORPHA:2107
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Sm... ORPHA:96334
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Small hand, Fib... ORPHA:444077
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Infantile Systemic Hyalinosis
Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne... ORPHA:2176
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... ORPHA:85167
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... ORPHA:457395
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... OMIM:307800
Achondrogenesis
Abnormal enchondral ossification, Abnormality of bone mineral density, Micromelia, Micrognathia ORPHA:932
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... ORPHA:239
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Brachydactyly ORPHA:2145
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Microcephaly, Abnormal cartilage matrix, Epiphyseal stippling, Intrauterine gro... ORPHA:86822
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi... ORPHA:3035
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... OMIM:611717
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... OMIM:210720
Mietens Syndrome
Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit... ORPHA:2557
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... OMIM:617604
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Deviation of ... ORPHA:1597
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Bro... OMIM:612813
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Abnormal metatarsal morphology, Cryptorchidism, Rhizo-meso-acromelic limb short... ORPHA:163654
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short long bone, Talipes equinovarus OMIM:618845
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... OMIM:271665
Dent Disease 1
Thin bony cortex, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300009
Ellis-Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Cryptorchidism, Genu... OMIM:225500
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Small h... ORPHA:3121
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preax... OMIM:617866
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Flared metaphysis, Prominent interphalang... OMIM:215150
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... OMIM:615503
Insulin-Like Growth Factor I Deficiency
Short stature, Microcephaly, Postnatal growth retardation, Decreased body weight, Clinodactyly of... OMIM:608747
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Limited elbow exte... OMIM:618019
Pallister-Hall-Like Syndrome
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Postaxial ... OMIM:241800
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... OMIM:187600
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, External genital hypoplasia, Metatarsus adductus, Short ... ORPHA:3041
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Postnatal growth retardation, Wide anterior fontan... OMIM:619135
Thanatophoric Dysplasia
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dy... ORPHA:2655
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Testicular atrophy, Decreased fertility OMIM:313200
Gm1-Gangliosidosis, Type Ii
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Failure to thrive, T... OMIM:230600
Acrofrontofacionasal Dysostosis
Bifid scrotum, Hypospadias, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, S... ORPHA:1784
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... ORPHA:85165
Sponastrime Dysplasia
Metaphyseal widening, Osteopathia striata, Delayed epiphyseal ossification, Generalized joint lax... ORPHA:93357
Rhyns Syndrome
Radial bowing, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, S... OMIM:602152
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... ORPHA:93317
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Pes cavus, Hypogonadotropic hypogonadism,... OMIM:308750
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... ORPHA:1827
Dpm1-Cdg
Sandal gap, External genital hypoplasia, Micrognathia, Knee flexion contracture, Camptodactyly, L... ORPHA:79322
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Gm1 Gangliosidosis
Camptodactyly of finger, Joint stiffness, Weight loss, Abnormal diaphysis morphology, Abnormality... ORPHA:354
Pycnodysostosis
Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Overweight, Generalized o... ORPHA:763
Acromesomelic Dysplasia 4
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... OMIM:619636
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri... ORPHA:1860
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... OMIM:613848
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Irregular epiphyses,... OMIM:618162
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... ORPHA:50945
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... OMIM:602875
Xylt1-Cdg
Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, ... ORPHA:370930
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Short long bone, Talipes equi... OMIM:224410
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... OMIM:617895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor... OMIM:615630
Becker Nevus Syndrome
Micromelia, Hypoplastic labia minora, Abnormal tibia morphology, Abnormality of the scrotum, Spin... ORPHA:64755
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Hip dislocation, Limb undergrowth, Joint contracture, Failure to thrive OMIM:618005
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrod... OMIM:156400
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Abnormal bone ossification, Short palm, ... ORPHA:175
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa... OMIM:271510
3M Syndrome
Hypoplasia of the ulna, Congenital hip dislocation, Hypospadias, Rocker bottom foot, Micromelia, ... ORPHA:2616
Hypertrichosis Cubiti
Joint hyperflexibility, Rhizomelia, Micromelia ORPHA:2220
Achondrogenesis, Type Ii
Microretrognathia, Broad long bones, Short tubular bones of the hand, Abnormal foot morphology, S... OMIM:200610
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Micrognathia, Wide anterior fontanel, Metaphyseal widening, Short lo... OMIM:263210
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Joint laxity, Monkey wrench femoral neck, Micromelia, 2-3 toe syndactyly, Flat... OMIM:618870
Dysostosis, Stanescu Type
Bowing of the long bones, Increased bone mineral density, Micromelia, Abnormal epiphysis morpholo... ORPHA:1798
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Short thumb, Hypoplasia of... ORPHA:3258
Spondyloepiphyseal Dysplasia Congenita
Short femur, Micrognathia, Abnormal foot morphology, Upper limb undergrowth, Flat acetabular roof... ORPHA:94068
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Apl... ORPHA:221016
Thanatophoric Dysplasia Type 2
Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphysis morphology,... ORPHA:93274
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology ORPHA:1861
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Small for gestational age, Met... ORPHA:221008
Keutel Syndrome
Short stature, Calcification of cartilage, Short distal phalanx of finger ORPHA:85202
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Limb undergrowth, Shor... OMIM:225410
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Micromelia, Camptodactyly OMIM:610015
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly ORPHA:171866
Pelviscapular Dysplasia
Hypoplastic scapulae, Short femur, Congenital hip dislocation, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... OMIM:252600
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Small hand, Short foot, Short palm ORPHA:238750
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Rickets of the... ORPHA:289176
Pyruvate Dehydrogenase E1-Alpha Deficiency
Limb undergrowth, Flexion contracture, Small for gestational age ORPHA:79243
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Short foot, Micropenis, Spina bifida occulta, Thickened cortex of long bo... ORPHA:488434
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Precocious puberty, Coxa vara, Truncal obesity, Narrow pelvis bone, Joint hyperflexib... ORPHA:2637
Opsismodysplasia
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... OMIM:258480
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Short metacarpal, Craniosynostosis, Micrognathia, Limited elbow movement, Hypoplasia of the odont... ORPHA:508533
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx, Partial duplic... OMIM:616331
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, D... OMIM:236680
Cardioacrofacial Dysplasia 2
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... OMIM:619143
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Limited mobility of proximal interphalangeal joint, Hypoth... OMIM:222300
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly ORPHA:1318
Stüve-Wiedemann Syndrome
Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Recurrent fractures, M... ORPHA:3206
Rothmund-Thomson Syndrome
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Small for gestational ag... ORPHA:2909
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... OMIM:610442
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... OMIM:268310
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Lower limb asymmetry, Avascular necrosis of the capital femoral epiphysis, Abn... ORPHA:93315
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac... OMIM:271640
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Small scrotum, Micromel... OMIM:612651
Congenital Varicella Syndrome
Micromelia ORPHA:291
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Obesity, Hip dysplasia, Limb undergrowth, Clinodactyly of the 5th fin... ORPHA:319675
Slc39A8-Cdg
Osteopenia, Failure to thrive in infancy, Craniosynostosis, Elbow flexion contracture, Knee flexi... ORPHA:468699
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Hypoplastic scapulae, Bowing of the legs, Short toe, Short foot, Short long ... OMIM:269860
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Pes planus, Congenital hip dislocation, Decreased response to growth hormone stimulation test, Ta... OMIM:616007
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Osteogenesis Imperfecta, Type Vii
Osteopenia, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromeli... OMIM:610682
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, A... ORPHA:800
Desmosterolosis
Increased bone mineral density, Micromelia, Micrognathia, Metatarsus adductus, Osteopetrosis, Amb... ORPHA:35107
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... OMIM:617809
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... ORPHA:465508
Dent Disease
Enlarged epiphyses, Thin bony cortex, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowin... ORPHA:1652
Bartsocas-Papas Syndrome 1
Micrognathia, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Micropenis, ... OMIM:263650
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal diaph... ORPHA:2021
Orofaciodigital Syndrome Type 4
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand p... ORPHA:2753
Dyschondrosteosis-Nephritis Syndrome
Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia ORPHA:1765
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Micromelia, Male pseudohermaphroditism, Short phalanx of finger, Brachydactyly OMIM:600092
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Prominent fingertip pads, Clinodactyly, Broad ... OMIM:618529
Kagami-Ogata Syndrome
Coxa valga, Micrognathia, Long fingers, Flexion contracture, Limb undergrowth OMIM:608149
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Failure to thrive, Micromelia, Adducted thumb ORPHA:50810
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... ORPHA:2636
Lethal Congenital Contracture Syndrome 10
Micrognathia, Femoral bowing, Short long bone, Hypoplasia of the thymus, Talipes equinovarus, Ove... OMIM:617022
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Wide anterior fontanel, Tibial bowing, Femoral bowing, Uterine leiomyoma, Mesomelia, ... OMIM:616482
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Hypoplastic labia minora, Flexion contracture, Hypoplastic labia majora, Talip... OMIM:619124
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Micromelia ORPHA:79107
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Micromelia, Micrognathia, External genital hypoplasia, Flexion contract... ORPHA:2671
Adult-Onset Still Disease
Cartilage destruction ORPHA:829
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Short femur, Metaphyseal spurs, Femoral bowing, Ovarian cyst, Short long bon... OMIM:618188
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Cryptorchidism, Osteoporosis, 2-3 toe syndactyly, Broad finger, Limb... ORPHA:488632
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Arthritis, Limb undergrowth, Juvenil... ORPHA:1855
Hydrolethalus
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormal fallopian tube mor... ORPHA:2189
Raine Syndrome
Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognathia, Subperiosteal... OMIM:259775
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Mesomelia ORPHA:1908
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Precocious pu... OMIM:146510
Geleophysic Dysplasia 1
Short palm, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irregular capital f... OMIM:231050
Mosaic Trisomy 9
Hypoplasia of penis, Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly of finger, Crypt... ORPHA:99776
Schisis Association
Small for gestational age, Micromelia ORPHA:63862
Ellis Van Creveld Syndrome
Hypospadias, Micromelia, Capitate-hamate fusion, Epispadias, Cryptorchidism, Abnormal morphology ... ORPHA:289
Lesch-Nyhan Syndrome
Hip dislocation, Podagra, Testicular atrophy OMIM:300322
Moderate Hemophilia A
Cartilage destruction, Hip contracture ORPHA:169805
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Micropenis, Truncal obesity, Limb undergrowth, Clinodactyly OMIM:616541
Osteogenesis Imperfecta
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... ORPHA:666
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small scrotum, Small for gestational age, Ex... ORPHA:97360
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage ORPHA:3348
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Short long bone, Small pituitary gland... OMIM:619479
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Sandal gap, Broad hallux, Micromelia, Brachydactyly OMIM:614800
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Cornelia De Lange Syndrome 1
Hypospadias, Micromelia, Micrognathia, Proximal placement of thumb, Cryptorchidism, Hypoplasia of... OMIM:122470
Alkaptonuria
Cartilage destruction, Intervertebral disk calcification, Calcification of cartilage ORPHA:56
Encephalocraniocutaneous Lipomatosis
Abnormal cartilage morphology, Macrocephaly ORPHA:2396
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... OMIM:214800
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... OMIM:270400
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... OMIM:180700
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Micrognathia, Cryptorchidism, Micropenis, Clitoral hypoplasia, Mesomelia, Clinodactyl... OMIM:616894
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... ORPHA:87
Frank-Ter Haar Syndrome
Short palm, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterior fontanel, ... OMIM:249420
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Bifid uterus, Lo... OMIM:256520
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Micrognathia, Bilateral cryptorchidism, Cryptorchidism, Mesomelia, Fai... OMIM:613457
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
X-Linked Intellectual Disability, Snyder Type
Long toe, Arachnodactyly, Hypospadias, Cryptorchidism, Slender toe, Abnormality of the Leydig cel... ORPHA:3063
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Finger syndactyly, Hypoplasia of penis, Hypospadias, Camptodactyly of ... ORPHA:3107
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Camptodactyly... ORPHA:1507
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Micrognathia, Urethrovaginal fistula, Preaxial hand polydactyly,... ORPHA:93271
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Aplasia of the epiglottis, C... OMIM:617088
Reactive Arthritis
Cartilage destruction, Weight loss ORPHA:29207
Radio-Renal Syndrome
Micromelia, Micrognathia, Hypoplasia of the radius, Short palm, Brachydactyly ORPHA:3015
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Acrocephalopolydactylous Dysplasia
Craniosynostosis, Postaxial hand polydactyly, Micromelia OMIM:200995
Leukocyte Adhesion Deficiency Type Ii
Limb undergrowth, Failure to thrive, Overlapping toe, Small for gestational age ORPHA:99843
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs, Micropenis OMIM:616546
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Hypoplasia of penis, Rhizomelia, Hypospadias, Proximal placement of thumb, Mic... ORPHA:818
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Abnormality of the ut... ORPHA:199
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Postaxial hand polydactyly,... OMIM:613610
8Q24.3 Microdeletion Syndrome
Microretrognathia, Long toe, Joint laxity, Short femur, Small for gestational age, Rocker bottom ... ORPHA:508488
C Syndrome
Toe syndactyly, Failure to thrive in infancy, Micromelia, Micrognathia, Female pseudohermaphrodit... ORPHA:1308
Dihydropyrimidine Dehydrogenase Deficiency
Epiphyseal dysplasia, Micromelia ORPHA:1675
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Peters Plus Syndrome
Toe syndactyly, Rhizomelia, Hypospadias, Micromelia, Micrognathia, Cryptorchidism, Short toe, Sho... ORPHA:709

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.

There is no histopathology data for Nppc

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 Nppc.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Nppctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nppctm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nppctm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nppctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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