Gene: Smpd3 MGI:1927578

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

sphingomyelin phosphodiesterase 3, neutral

Synonyms:

4631433G07Rik, Nsm2, neutral sphingomyelinase II, nSMase2, fro

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 Smpd3 mutations

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

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

Human diseases associated with Smpd3 (0 diseases)
Human diseases predicted to be associated with Smpd3 (1957 diseases)

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

The table below shows human diseases predicted to be associated to Smpd3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Abnormal hand morpho...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp...	OMIM:211350
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor...	OMIM:600785
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Abnormal per...	ORPHA:313855
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Type II diabetes me...	OMIM:210720
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Hypop...	OMIM:151210
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hypoplastic ilia, Pectus carinatum, Delayed vertebral ossification, Long hallux, Hypoplastic ilia...	OMIM:613330
Bent Bone Dysplasia Syndrome 2	Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ili...	OMIM:620076
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocat...	OMIM:164900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Fibular bowing, Secondary hyperparathyroidism, Rickets, Bulging ...	OMIM:264700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:600081
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Secondary hyperparathyroidism, Ri...	OMIM:277440
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac...	OMIM:184260
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy...	ORPHA:75508
Chondrodysplasia, Blomstrand Type	Narrow chest, Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Malar flattening, Short ri...	OMIM:215045
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Limitation of joint mobility,...	OMIM:156550
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Respiratory distress, Femoral ...	OMIM:100800
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, E...	OMIM:307800
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Micrognathia, Ulnar bowing,...	OMIM:617866
Achondrogenesis Type 2	Hypoplastic ilia, Narrow chest, Micromelia, Absent vertebral body mineralization, Delayed pubic b...	ORPHA:93296
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn...	ORPHA:3035
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Thoracic hypoplasia, Femoral bowing, Limited e...	OMIM:618019
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg...	ORPHA:1856
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin...	OMIM:241530
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ...	ORPHA:3269
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Pectus carinatum, Bowing of the arm, Joint hyp...	OMIM:301014
Odontochondrodysplasia	Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone, Delayed erupt...	ORPHA:166272
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea...	OMIM:108720
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas...	OMIM:619598
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, P...	OMIM:619135
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Pec...	OMIM:613849
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi...	OMIM:600920
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Delayed erup...	OMIM:112350
Al-Gazali Syndrome	Osteopenia, Broad distal phalanx of finger, Micrognathia, Recurrent fractures, Bowed humerus, Wri...	OMIM:609465
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Slender long bone, Micrognathia, Recurrent fractures, Bowin...	OMIM:259420
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal irregularity, Metaphyseal cupping, Contractures of the large joints, Pes cavus, Short...	OMIM:616716
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna...	OMIM:602471
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bo...	OMIM:616507
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Abnormality of the dentition, Finger syndactyly, Radioulnar synostosis, Abnorma...	ORPHA:3268
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Long philtrum, Radial club hand, Abnormal dental morphology, Abnormality of the wri...	ORPHA:2878
Osteogenesis Imperfecta, Type Viii	Thin ribs, Dentinogenesis imperfecta, Osteopenia, Slender long bone, Radial bowing, Femoral bowin...	OMIM:610915
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Bowing of the long bones, Osteopenia, Thora...	OMIM:613848
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Short thorax, Joint stiffness, Micrognath...	ORPHA:1801
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Isolated Growth Hormone Deficiency, Type Ib	Decreased response to growth hormone stimulation test, Reduced circulating growth hormone concent...	OMIM:612781
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ...	OMIM:618022
Osteogenesis Imperfecta, Type Ii	Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Bell-sh...	OMIM:166210
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Atelosteogenesis, Type Iii	Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Rhizomelia, Radial bowing, Sandal...	OMIM:108721
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Limitation of joint mobilit...	ORPHA:1427
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Hyperparathyroidism, Metaphyseal spurs, Respi...	OMIM:618188
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Long phi...	OMIM:207410
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Broad toe, Broad phalanx, Short metac...	OMIM:619636
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to gro...	ORPHA:1263
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Slender long bone, Decreased circulating osteocalcin level, Bowing of ...	OMIM:619795
Fibrochondrogenesis 2	Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-shaped thorax, Mal...	OMIM:614524
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Coarse metaphyseal trabecularization, Short ribs, Limb undergrowth, Brachydactyly, ...	OMIM:618961
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1350
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c...	ORPHA:1972
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus...	OMIM:224300
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tarsal ossification...	OMIM:269250
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor...	OMIM:613320
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,...	OMIM:249710
Rhyns Syndrome	Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Brachydactyly, ...	OMIM:602152
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
3M Syndrome	Thin ribs, Decreased fertility, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of t...	ORPHA:2616
Pyle Disease	Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of primary teeth,...	OMIM:265900
Caffey Disease	Cortical thickening of long bone diaphyses, Cortical irregularity, Periosteal thickening of long ...	ORPHA:1310
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp...	ORPHA:89936
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, Talipes equinovarus,...	OMIM:272460
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,...	ORPHA:1988
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb...	ORPHA:79106
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Delayed...	ORPHA:289157
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Narrow chest, Thoracic hypoplasia, Long philtrum, Widely spaced teeth, Tri...	OMIM:619479
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar...	OMIM:228520
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Narrow chest, Limitation of joint mobility, Micromelia, Equinovaru...	OMIM:224400
Metaphyseal Dysplasia, Spahr Type	Metaphyseal sclerosis, Genu valgum, Bowing of the legs, Metaphyseal chondrodysplasia, Metaphyseal...	OMIM:250400
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthrit...	OMIM:154780
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Anterior radial he...	OMIM:610967
Van Bogaert-Hozay Syndrome	Tooth malposition, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hy...	OMIM:277150
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ...	OMIM:300200
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Achondrogenesis, Type Ii	Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ...	OMIM:200610
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morpholog...	ORPHA:1842
Achondrogenesis, Type Ib	Hypoplastic ilia, Narrow chest, Micromelia, Absent or minimally ossified vertebral bodies, Malar ...	OMIM:600972
Mietens-Weber Syndrome	Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim...	OMIM:249600
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ...	ORPHA:314795
Lethal Recessive Chondrodysplasia	Narrow chest, Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb under...	ORPHA:1423
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Osteopenia, Fractures of the long bones, Equinovarus deformity, Talipes cal...	ORPHA:319195
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Reduced bone mineral ...	ORPHA:2501
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna...	OMIM:227270
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Short femoral neck, Knee dislocation, Joint hypermobility, Carpal bone hypoplasia, Pes...	OMIM:618395
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Flat acetabular roof, Short dis...	OMIM:271700
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Limitation of joint mobilit...	ORPHA:95699
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Petechiae, Ulnar bowing, Limited prona...	OMIM:605432
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Micrognathia, Abnormal morphology of ulna, Abnormal...	ORPHA:3104
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ...	OMIM:143095
Prieto Syndrome	Abnormality of the dentition, Radial deviation of finger, Clinodactyly, Retrognathia, 11 pairs of...	OMIM:309610
Panhypophysitis	Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr...	ORPHA:95513
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon...	ORPHA:174
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ...	OMIM:187601
Spondylometaphyseal Dysplasia, Type A4	Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sc...	OMIM:609052
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Adenohypophysitis	Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr...	ORPHA:95512
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Reduced proximal interphalangeal joint space, Pedal ed...	ORPHA:166011
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Pectus carinatum, Long philtrum, Wide distal femoral metaphysis, Incre...	OMIM:614856
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Raine Syndrome	Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Bowing o...	OMIM:259775
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot...	OMIM:250420
Campomelic Dysplasia	Small abnormally formed scapulae, Narrow chest, Tracheomalacia, 11 pairs of ribs, Femoral bowing,...	ORPHA:140
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Pathologic fra...	ORPHA:83468
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level...	ORPHA:90795
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Thoracic h...	OMIM:256050
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos...	ORPHA:2790
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Stuve-Wiedemann Syndrome 1	Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing...	OMIM:601559
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met...	OMIM:187600
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility	OMIM:276821
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Pectus carinatum, Bowing of limbs due to multiple fractures, Decreased...	OMIM:259440
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Thoracic hypoplasia, Flared metaphysis, Unilateral cleft lip, Decreased fibular diame...	OMIM:616897
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300554
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Osteoporosis, Short ...	ORPHA:71267
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Osebold-Remondini Syndrome	Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos...	OMIM:112910
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha...	OMIM:186500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Three M Syndrome 1	Short 5th finger, Slender long bone, Long philtrum, Thick lower lip vermilion, Hypoplastic pelvis...	OMIM:273750
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Bangstad Syndrome	Type I diabetes mellitus, Deviation of finger, Abnormality of the parathyroid gland, Increased ci...	ORPHA:1227
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su...	OMIM:612447
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h...	OMIM:222765
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Abnormality of the dentition, ...	OMIM:241500
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper li...	ORPHA:93351
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Upper limb undergrowth, Abnormal foot morp...	ORPHA:94068
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc...	ORPHA:3258
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal dental morphology, Abnor...	ORPHA:1837
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Respirato...	OMIM:617895
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness...	ORPHA:2249
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi...	OMIM:212780
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Premature Aging Syndrome, Penttinen Type	Thin ribs, Micrognathia, Flexion contracture of finger, Short foot, Hypoplasia of the maxilla, Ti...	OMIM:601812
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Bruising susceptibility, Tooth agenesis,...	OMIM:616229
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ...	OMIM:618363
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Metaphyseal cupping, Tooth malposition, Pathologic fracture, Micrognathia, Hip contra...	OMIM:156400
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n...	ORPHA:93308
W Syndrome	Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Submucous ...	ORPHA:2804
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Acromesomelic Dysplasia 1	Acromesomelia, Thoracolumbar kyphosis, Radial bowing, Short toe, Flared metaphysis, Long hallux, ...	OMIM:602875
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal cupping, Rhizomelia, Dental malocclusion, Flared metaphysis, Short finger, Joint stif...	OMIM:608940
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow flexion, Rhizomelic arm sh...	OMIM:164745
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Osteomyelitis, Micrognathia, Tibial bowing, Congenital bilateral hip disloc...	ORPHA:453510
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed erupti...	OMIM:225500
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,...	OMIM:206920
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha...	OMIM:271665
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Narrow chest, Micromelia, Femoral bowing, Micrognathia, Dumbbel...	ORPHA:440354
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f...	ORPHA:2632
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Arachnodactyly	OMIM:614100
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Open bite...	ORPHA:2097
Blount Disease, Adolescent	Genu varum, Bowing of the legs	OMIM:259200
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Bruising susceptibility...	ORPHA:49042
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Hypothyroidism, Aplasia/Hypoplasia of the ul...	ORPHA:2491
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Clubbing, Recurrent lower res...	ORPHA:60033
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Hip dislo...	OMIM:146510
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Rhizomelia, Abnormal epiphysis morp...	ORPHA:50945
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay...	OMIM:617974
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A...	ORPHA:52056
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S...	ORPHA:166016
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita...	OMIM:614736
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the...	ORPHA:2256
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Micrognathia, Narrow mouth, Talipes equinovarus, Abnormality of the knee...	ORPHA:251028
Culler-Jones Syndrome	Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Postaxial polydactyly...	OMIM:615849
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Broad foot, T...	OMIM:609441
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Short humerus, Lateral femoral bowing, Bowing of the ...	OMIM:239000
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300009
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Short ribs, Orofacial c...	OMIM:615630
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho...	OMIM:609734
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Genu valgum, Micrognathia, Talipes equinovarus, Pes plan...	OMIM:309350
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Abnormal...	ORPHA:175
Diaphanospondylodysostosis	Enlarged thorax, Absent or minimally ossified vertebral bodies, Respiratory distress, Missing rib...	ORPHA:66637
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Madelung deformity, Mi...	ORPHA:1765
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Narrow chest, Limitation of joint mobility, Micromelia, Broad long bones, Clubb...	ORPHA:1865
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Tibial torsion, Irregular epiphyses, Tooth agenesis, Small epiphyses, Knee ...	OMIM:600204
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Craniosynostosis, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermilion, Hypoplasia...	ORPHA:357175
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cartilage morpholog...	ORPHA:2347
Fetal Akinesia Deformation Sequence 4	Retrognathia, 11 pairs of ribs, Micrognathia, Neonatal death, Camptodactyly, High palate, Rocker ...	OMIM:618393
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Flat acetabular roof, Cleft lip, Hamartoma of tongu...	OMIM:616300
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i...	OMIM:250220
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Short long b...	OMIM:619751
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum	OMIM:618155
Intellectual Developmental Disorder, Autosomal Recessive 35	Clinodactyly, Downturned corners of mouth, Long philtrum, Micrognathia, Malar flattening, Thin up...	OMIM:615162
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongue, Femoral bow...	OMIM:613091
Geroderma Osteodysplasticum	Osteopenia, Hypoplasia of the maxilla, Abnormality of the dentition, Periodontitis, Progeroid fac...	OMIM:231070
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Temporomandibular joint ankylo...	ORPHA:141152
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Cutis Laxa-Marfanoid Syndrome	Emphysema, Arachnodactyly	ORPHA:171719
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin...	ORPHA:93328
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Downturned...	ORPHA:93267
Mietens Syndrome	Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Joint stiffness, Talipes,...	ORPHA:2557
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Perching Syndrome	Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, High palate	OMIM:617055
Meier-Gorlin Syndrome 1	Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Tetrasomy X	Abnormality of the dentition, Premature ovarian insufficiency, Joint hypermobility, Radioulnar sy...	ORPHA:9
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Tall stature, Decreased fertility, Abnormal circulati...	ORPHA:90794
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Metatropic Dysplasia	Narrow chest, Coarse metaphyseal trabecularization, Micromelia, Abnormal enchondral ossification,...	ORPHA:2635
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Delayed eruption of ...	ORPHA:289176
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Osteopenia, Growth delay, Ectopic anterior pituitary gland, Decrease...	ORPHA:90695
Diastrophic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Abnormal rib morphology, Sh...	ORPHA:628
Seckel Syndrome 4	Steep acetabular roof, Retrognathia, 11 pairs of ribs	OMIM:613676
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl...	ORPHA:958
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f...	ORPHA:2021
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Abnormality of the...	ORPHA:249
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Atelosteogenesis Type I	Rhizomelia, Narrow chest, Thoracic hypoplasia, Absent or minimally ossified vertebral bodies, Mic...	ORPHA:1190
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Clubbing, Hypersensit...	ORPHA:79127
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Anterior hypopituitarism, M...	OMIM:241800
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Narrow chest, Micromelia, Joint stiffness, Femoral bowing, Excessive wrinkled s...	ORPHA:1860
Mueller-Weiss Syndrome	Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of the os naviculare p...	ORPHA:566943
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Hypogonadotropic hypogonadism, Decreased circulati...	OMIM:600955
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ...	OMIM:173800
Pacman Dysplasia	Bowing of the long bones, Epiphyseal stippling	OMIM:167220
Spondylometaphyseal Dysplasia, Corner Fracture Type	Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta...	OMIM:184255
Cranioectodermal Dysplasia 1	Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Ectodermal dysplasia, Everted low...	OMIM:218330
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Malar flattening, Fibular hypop...	ORPHA:3144
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F...	ORPHA:1106
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb...	ORPHA:1145
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet...	ORPHA:63442
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating parathyroid hormone ...	OMIM:122860
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ...	ORPHA:3003
Osteogenesis Imperfecta, Type Xxi	Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, Pes valgus, Pes ...	OMIM:619131
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo...	ORPHA:53697
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Congenital Syphilis	Periostitis, Hyperplasia of the maxilla, Petechiae, Tibial bowing, Synovitis, Mulberry molar, Pro...	ORPHA:499009
Sheehan Syndrome	Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr...	ORPHA:91355
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Phocomelia, Schinzel Type	Finger aplasia, High, narrow palate, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving th...	ORPHA:2879
Glass Syndrome	Conical tooth, Dental crowding, Long philtrum, Apnea, Micrognathia, Malar flattening, Narrow mout...	OMIM:612313
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals	OMIM:618724
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shortening...	OMIM:300863
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Oncogenic Osteomalacia	Abnormal foot morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mo...	ORPHA:352540
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Sandal gap, Short tibia, Respiratory distress, Short humerus, Short ribs, Thin upper ...	OMIM:607143
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Mic...	OMIM:617925
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Phoar2-Enteropathy Syndrome	Hyperostosis, Clubbing, Periostosis	OMIM:614441
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Short finger, Irregular epiphyses, Gen...	OMIM:222600
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma	Long foot, Mandibular prognathia, Periostosis, Large hands	OMIM:102100
Bullous Dystrophy, Hereditary Macular Type	Tapered finger, Acrocyanosis, Short finger	OMIM:302000
Rothmund-Thomson Syndrome	Carious teeth, Aplasia/Hypoplasia of the patella, Osteopenia, Aplasia/Hypoplasia of the radius, I...	ORPHA:2909
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Dysostosis Multiplex, Ain-Naz Type	Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa hypoplasia, Flat acet...	OMIM:619345
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to...	OMIM:602080
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Shor...	OMIM:252600
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Brachyolmia Type 1, Hobaek Type	Osteopenia, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphyses, Thoracic sc...	OMIM:271530
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb...	ORPHA:2911
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca...	ORPHA:2633
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Barrel-shaped chest, Talipe...	OMIM:612651
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Erythema, Carpal synostosis, Micrognathia, Narrow mouth, Patellar ap...	OMIM:218600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Thyroid h...	OMIM:308050
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Slender long bone, Patellar hypoplasi...	OMIM:613803
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Anterior pituitar...	ORPHA:95494
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,...	ORPHA:95496
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir...	OMIM:132400
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Joint hyperm...	OMIM:613982
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi...	ORPHA:1452
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Mesomelia, Irregular menstruation, Rhizomelia, Narrow chest, Respiratory distress, Femoral bowing...	OMIM:616482
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Subcutaneous calcification, Radial bowing	OMIM:617993
Hypophosphatasia, Childhood	Rachitic rosary, Carious teeth, Premature loss of primary teeth, Craniosynostosis, Bowing of the ...	OMIM:241510
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Humero-Radio-Ulnar Synostosis	Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Abnormal metac...	ORPHA:3266
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Pes planus, Flattened epiphysis, High palate, Dislocated radial he...	OMIM:612350
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Narrow chest, Delayed...	ORPHA:2484
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Narrow chest, Bruising susceptibility, Long philtrum, Broad ri...	OMIM:304150
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Delayed eruptio...	OMIM:600373
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the uln...	ORPHA:246
Glucocorticoid Deficiency 1	Abnormal circulating aldosterone, Tall stature, Increased circulating ACTH level, Abnormal respon...	OMIM:202200
Bronchopulmonary Dysplasia	Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis	ORPHA:70589
Cerebrocostomandibular Syndrome	Carious teeth, Micrognathia, Bell-shaped thorax, Cleft soft palate, Short hard palate, High palat...	OMIM:117650
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Abnormality of the dentition, Downturned corners of mout...	OMIM:615398
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,...	OMIM:600002
Neuralgic Amyotrophy	Bifid uvula, Narrow mouth, Sprengel anomaly, Syndactyly, Scapular winging, Acrocyanosis, Cleft pa...	ORPHA:2901
Craniometadiaphyseal Dysplasia	Wide anterior fontanel, Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared ...	OMIM:269300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs...	OMIM:617877
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Fasting hyperinsulinemia, Decreased fibular diameter, Arac...	OMIM:619489
Glucocorticoid Deficiency 3	Abnormal circulating renin, Increased circulating ACTH level, Decreased circulating aldosterone l...	OMIM:609197
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Cole-Carpenter Syndrome 2	Thin ribs, Dentinogenesis imperfecta, Lambdoidal craniosynostosis, Microretrognathia, Osteopenia,...	OMIM:616294
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Clubbing, Abnormal pulmonary interstitial morphology, ...	OMIM:612387
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Thoracic hypoplasia, Small cervical vertebral bodies, Rhizomelic arm short...	ORPHA:397715
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Narrow chest, Sandal gap, Wi...	OMIM:617102
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,...	ORPHA:321
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Decreased fertility, Abnormal morphology of ulna, Abnormal metacarpal morphology, H...	ORPHA:2233
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol...	ORPHA:2839
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Narrow chest, Micromelia, Long philtrum, Bowin...	OMIM:610682
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Abnormality of the dentition, Coarse metaphyseal trabecularization, Osteomal...	ORPHA:93160
Cooper-Jabs Syndrome	Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Malar flatte...	ORPHA:1488
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod...	ORPHA:85165
Dysspondyloenchondromatosis	Lower limb asymmetry, Genu valgum, Metaphyseal enchondromatosis, Generalized joint hypermobility,...	ORPHA:85198
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ...	OMIM:615503
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short foot, Short toe, Hamartoma o...	OMIM:269860
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplasia of the maxilla, Absent thumb, Short thumb, Cleft upper lip, Oral...	OMIM:263650
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Reduced bone mineral density, Narrow mouth, Abnormal meta...	ORPHA:2370
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci...	ORPHA:90790
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar synostosis...	ORPHA:536467
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Metaphyseal spurs, Micromelia, Posterior rib cupping, Irregular epiphyses, Thoracic hypoplasia, S...	OMIM:608728
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Finger clinodactyly, Abnormal number of incisors, Supernumerary ribs, Patellar subl...	ORPHA:2958
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotropin deficient adrena...	ORPHA:199299
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Distal Duplication 5Q	Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Hypoplasia of the ulna, H...	ORPHA:96097
Seckel Syndrome 1	Ivory epiphyses, Micrognathia, Talipes, Pes planus, High palate, Dislocated radial head, Cone-sha...	OMIM:210600
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Osteop...	OMIM:620099
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Elbow dislocation, Long philtrum, Micrognathia, Abnormal femur morphology...	ORPHA:93329
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Joint stiffness, Abnormal morphology of ulna, Hand polydactyly,...	ORPHA:2167
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Equinovarus deformity, Respiratory distress, Elbow flexion contracture...	ORPHA:1143
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Craniofacial hyperostosis, Pituitary adenoma, Increased ...	OMIM:174800
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Patellar dislocation, Short toe, Knee dislocation, Genu valgum, Microgn...	OMIM:614078
Microcephaly-Micromelia Syndrome	Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu...	OMIM:251230
Kaposiform Lymphangiomatosis	Fractures of the long bones, Abnormal scapula morphology, Osteolysis, Bruising susceptibility, Ab...	ORPHA:464329
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ...	OMIM:609324
Hypochondroplasia	Flared metaphysis, Trident hand, Malar flattening, Limited elbow extension, Aplasia/hypoplasia of...	OMIM:146000
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Mucopolysaccharidosis Type 4	Pectus carinatum, Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Sho...	ORPHA:582
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li...	OMIM:271650
Acrorenal-Mandibular Syndrome	Thin ribs, Narrow palate, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Rudimentary fibula,...	OMIM:200980
Hall-Riggs Syndrome	Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Brachydactyly, Met...	OMIM:234250
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormal rib cage morphology, Abnormality of carpal bone ossification, Hypoplasia of the maxilla,...	OMIM:608154
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands	OMIM:615198
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi...	ORPHA:226307
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Carious teeth, Decreased skull ossification, Stenosis of the medullary cav...	ORPHA:93324
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Posterior pituitary hypopl...	OMIM:613986
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor...	ORPHA:166002
Nail-Patella Syndrome	Patellar aplasia, Talipes equinovarus, Disproportionate prominence of the femoral medial condyle,...	OMIM:161200
Hyperostosis Corticalis Generalisata	Abnormal clavicle morphology, Cranial hyperostosis, Abnormal cortical bone morphology, Generalize...	ORPHA:3416
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Bilateral cleft palate, Radioulnar synos...	OMIM:614900
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Conical tooth, Short thumb, Cleft upper lip, Abnormal foot morphology...	OMIM:263750
Hypophosphatasia	Abnormality of the dentition, Narrow chest, Bowing of the long bones, Abnormal rib morphology, Cr...	ORPHA:436
Osteogenesis Imperfecta, Type I	Osteopenia, Dentinogenesis imperfecta, Bruising susceptibility, Femoral bowing, Increased suscept...	OMIM:166200
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition...	OMIM:157900
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Primar...	OMIM:614880
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Chordee, Broad phalanx, ...	OMIM:166250
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So...	OMIM:602418
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Macroglossia, Increased density of long bones, Short 1st metacarp...	OMIM:269150
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ...	OMIM:201170
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hypoplasia, Brachydactyly, Osteoporos...	OMIM:612463
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Focal Dermal Hypoplasia	Erythema, Toe syndactyly, Finger syndactyly, Open bite, Upper limb asymmetry, Coarse metaphyseal ...	ORPHA:2092
Ulbright-Hodes Syndrome	Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Talipes equinova...	ORPHA:3404
Glucocorticoid Deficiency 5	Decreased circulating cortisol level, Abnormal response to ACTH stimulation test	OMIM:617825
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Redu...	OMIM:620639
Mesomelia-Synostoses Syndrome	Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna...	OMIM:600383
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Plantar pits, Abnormal sternum morphology, Cleft ...	OMIM:109400
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Glucocorticoid Deficiency 2	Abnormal circulating renin, Decreased circulating cortisol level, Increased circulating ACTH leve...	OMIM:607398
Smith-Mccort Dysplasia 1	Hypoplastic facial bones, Hypoplastic scapulae, Hypoplastic acetabulae, Limitation of joint mobil...	OMIM:607326
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pectus carinatum, Hypoplasia of the odontoid process, Clinodactyly, Genu valgum, Delayed pubic bo...	OMIM:184250
Exostoses, Multiple, Type Ii	Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, Scapular exostoses, P...	OMIM:133701
Exostoses, Multiple, Type I	Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, Scapular exostoses, P...	OMIM:133700
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Thoracic kyp...	OMIM:203550
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Heart Defects-Limb Shortening Syndrome	Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal metaphysis morphology, Abnormal rib ...	ORPHA:1354
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphysis, Upper-limb...	OMIM:618728
48,Xxyy Syndrome	Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Talipes, Radioulnar synos...	ORPHA:10
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser...	ORPHA:67045
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Respiratory distress, Osteomyelitis, Broad ribs, Flaring of rib cage, St...	OMIM:612852
Meningioma	Secondary growth hormone deficiency, Decreased serum estradiol, Impotence, Hypothalamic hypothyro...	ORPHA:2495
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, High palate, C...	OMIM:266920
Neurooculorenal Syndrome	Ectopic posterior pituitary, Central hypothyroidism, Short 1st metacarpal, Postnatal growth retar...	OMIM:620305
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Dentinogenesis imperfecta, Osteopenia, Type I diabetes mellitus, Periodontiti...	OMIM:619269
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno...	ORPHA:1486
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Achondrogenesis Type 1B	Narrow chest, Abnormal enchondral ossification, Micromelia, Short thorax, Long philtrum, Microgna...	ORPHA:93298
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Limited ...	ORPHA:93346
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Respiratory distress, Joint hypermobil...	ORPHA:2759
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr...	ORPHA:93284
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Tooth malposition, Carious teeth, Bifid femur, Failure of eruption of permanen...	ORPHA:2769
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Osteopenia, Increased susceptibility to fractures, Joint hypermobility...	OMIM:610968
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Narrow mouth, Talipes equinovarus, ...	OMIM:616145
48,Xyyy Syndrome	Male hypogonadism, Long philtrum, Abnormal foot morphology, Thick lower lip vermilion, Azoospermi...	ORPHA:99329
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi...	OMIM:619073
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Small epiphyse...	OMIM:620269
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio...	OMIM:102370
Restrictive Dermopathy 2	Hypoplastic facial bones, Microretrognathia, Overtubulated long bones, Respiratory distress, Cyan...	OMIM:619793
Congenital Disorder Of Glycosylation, Type Iy	Clinodactyly, Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth	OMIM:300934
Alagille Syndrome	Short distal phalanx of finger, Clinodactyly of the 5th finger, Micrognathia, Telangiectasia of t...	ORPHA:52
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped...	ORPHA:420794
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Abnormal tibia morphology, Genu valgum, Micrognathia, Decreased skull o...	ORPHA:666
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade...	ORPHA:97289
Diaphanospondylodysostosis	Tracheomalacia, Delayed vertebral ossification, Thoracic hypoplasia, Respiratory distress, Microg...	OMIM:608022
X-Linked Intellectual Disability, Van Esch Type	Coronal craniosynostosis, Male hypogonadism, Absence of secondary sex characteristics, Decreased ...	ORPHA:163976
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Intrauterine growth retardation	OMIM:618838
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Orofacial cleft, Ab...	ORPHA:2319
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of th...	ORPHA:1307
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma, Genu valgum	OMIM:618913
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Small hand, Rib exostoses, Natal tooth, Trache...	ORPHA:2108
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:144750
Schinzel-Giedion Syndrome	Overlapping toe, Overlapping fingers, Micrognathia, Streak ovary, Radioulnar synostosis, Abnormal...	ORPHA:798
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Micrognathia, Delayed eruption of p...	ORPHA:763
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Pes planus, ...	ORPHA:1328
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Micrognathia, Narrow mouth, Radioulnar synostosis, Talipes equi...	OMIM:245600
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo...	ORPHA:1952
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Pectus carinatum, Short femoral neck, Brachydactyly, Reduced bone mineral density, Delayed ossifi...	OMIM:618392
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Aplasia/Hypoplasia of m...	ORPHA:2502
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Thoracic hypoplasia, Limited elbow extension, Limb undergrowth, Pectus excavatum, Bowing of the legs	ORPHA:156728
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,...	ORPHA:2972
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula...	ORPHA:293978
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Rachitic rosary, Osteomalacia, Pathologic fractu...	ORPHA:157215
Temple Syndrome

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