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Gene: Bmpr1b MGI:107191

Gene Summary

Name:

bone morphogenetic protein receptor, type 1B

Synonyms:

BMPR-IB, Alk6, CFK-43a, Acvrlk6

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased grip strength	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
small testis	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
small seminal vesicle	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
increased freezing behavior	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	8.96×10^-14
abnormal autopod morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	3.13×10^-05
abnormal bone structure	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	4.33×10^-07
abnormal liver morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	9.09×10^-05
irregularly shaped pupil	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	1.00×10^-06
cataract	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	8.46×10^-05
female infertility	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal optic disk morphology	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	5.81×10^-16
increased circulating phosphate level	Bmpr1b^em1(IMPC)Mbp	HOM	Early adult	2.11×10^-06

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bmpr1b 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 Bmpr1b (8 diseases)
Human diseases predicted to be associated with Bmpr1b (1612 diseases)

The table below shows human diseases associated to Bmpr1b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Brachydactyly, Type A1, D	Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t...	OMIM:616849
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388

The table below shows human diseases predicted to be associated to Bmpr1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Arthropathy, Short middle phalanx of finger, Radial deviation of finger, ...	OMIM:606835
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Brachydactyly, Type A1, D	Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t...	OMIM:616849
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Brachydactyly, Type A4	Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact...	OMIM:112800
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal car...	ORPHA:93351
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Camptodactyly of finger, Chorioretinal coloboma, Broad thumb, Short distal ...	ORPHA:1471
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit...	OMIM:271650
Satoyoshi Syndrome	Pes planus, Short metacarpal, Short metatarsal, Amenorrhea, Osteolytic defects of the phalanges o...	OMIM:600705
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Cryptorchidism, Limited elbow extension, Short metatarsal, Small ha...	OMIM:180870
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Paternal Uniparental Disomy Of Chromosome X	Short metacarpal, Infertility, Cubitus valgus, Micropenis, Decreased testicular size	ORPHA:261524
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Congenital Vertical Talus	Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality...	ORPHA:178382
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Osteochondrosis Of The Tarsal Bone	Pedal edema, Tarsal sclerosis, Arthritis, Tarsal stippling, Chondritis, Abnormal tarsal ossificat...	ORPHA:563991
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars...	OMIM:615222
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Bardet-Biedl Syndrome 5	Syndactyly, External genital hypoplasia, Hypogonadism, Polydactyly, Micropenis, Brachydactyly	OMIM:615983
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Arthrogryposis, Distal, Type 1A	Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro...	OMIM:108120
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Increased laxity of ankles...	ORPHA:750
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Tetrasomy X	Premature ovarian insufficiency, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th fi...	ORPHA:9
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Avascular necrosis of the capital femoral epi...	OMIM:132400
Digitotalar Dysmorphism	Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger	OMIM:126050
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia	OMIM:241000
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Hand-Foot-Genital Syndrome	Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda...	OMIM:140000
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Seckel Syndrome 7	Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Hypoplasia of the uterus, Hip...	OMIM:614851
Curved Nail Of Fourth Toe	Short distal phalanx of finger	OMIM:219070
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossification of carpal ...	OMIM:614613
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Bowen-Conradi Syndrome	Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia	OMIM:211180
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,...	OMIM:251450
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Short metacarpal, Cryptorchidism	ORPHA:2489
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Recurrent patellar dislocation, Micrognathia, Capitate-hamate fusion, Short toe...	OMIM:614078
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double...	ORPHA:93307
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
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Delayed epiphyseal ossific...	OMIM:600969
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Equinovarus deformity,...	ORPHA:566943
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis, Abnormal epi...	OMIM:619248
Bowen-Conradi Syndrome	Camptodactyly of finger, Rocker bottom foot, Micrognathia, Cryptorchidism, Clinodactyly of the 5t...	ORPHA:1270
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Short thumb, Cataract, Chorioretinal coloboma, Cryptorchidism	OMIM:274205
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Patent ductus arteriosus, Short finger, Clinodactyly of the 5th finger, Short 5th meta...	OMIM:604381
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio...	OMIM:194350
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo...	OMIM:190351
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Hypospadias, Short hallux, Proximal placement ...	ORPHA:2438
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Pseudoachondroplasia	Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth...	OMIM:177170
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Metachondromatosis	Multiple enchondromatosis, Bowing of the long bones	OMIM:156250
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars...	OMIM:601680
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali...	ORPHA:83468
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphys...	ORPHA:564003
2q37 monosomy	Brachydactyly	DECIPHER:44
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Brachydactyly, Optic atrophy, Short distal phalanx of finger	ORPHA:2787
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Short phalanx...	OMIM:132450
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Symphalangism, Distal	Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte...	OMIM:185700
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
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
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Pseudopseudohypoparathyroidism	Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Brachydactyly	OMIM:612463
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Pes planus, Tapered finger, Cryptorchidism, Short foot, Pes cavus	OMIM:309585
Acromicric Dysplasia	Short metacarpal, Small hand, Abnormal femur morphology, Abnormal epiphysis morphology, Short pal...	ORPHA:969
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
Distal Arthrogryposis Type 1	Camptodactyly of finger, Rocker bottom foot, Talipes, Ulnar deviation of finger, Abnormal hip bon...	ORPHA:1146
Pde4D Haploinsufficiency Syndrome	Pes planus, Short metacarpal, Broad hallux, Hypospadias, Micrognathia, Cryptorchidism, Short toe,...	ORPHA:439822
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars...	OMIM:609945
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Short metatarsal, Cubit...	OMIM:248800
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Bardet-Biedl Syndrome 18	Rod-cone dystrophy, Retinal dystrophy, Brachydactyly	OMIM:615995
Peripheral Dysostosis	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly	ORPHA:1795
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Winchester Syndrome	Arthropathy, Osteolysis involving tarsal bones, Broad metacarpals, Carpal osteolysis	OMIM:277950
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Irritability, Hype...	OMIM:146200
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of...	OMIM:311895
Odontotrichoungual-Digital-Palmar Syndrome	Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo...	OMIM:601957
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Abnormal ...	OMIM:216100
Bardet-Biedl Syndrome 4	Syndactyly, External genital hypoplasia, Cryptorchidism, Hypogonadism, Polydactyly, Brachydactyly	OMIM:615982
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno...	ORPHA:85438
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly	ORPHA:3303
Silver-Russell Syndrome	Abnormality of male external genitalia, Sandal gap, Hypospadias, Micrognathia, Lower limb asymmet...	ORPHA:813
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short toe, Short metatarsal, Osteoporosis, Pseudohypoparathyroidism, ...	OMIM:103580
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal joint morphology, A...	ORPHA:3130
Larsen-Like Syndrome	Joint dislocation, Wide anterior fontanel, Talipes equinovarus, Radial deviation of the 4th finge...	OMIM:608545
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Cryptorchidism, Small hand, Micropenis, Broad finger, Clinodactyly, Short phalanx of finger, Brac...	OMIM:614684
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Premature pubarche, Bowing of the legs, Secondary amenorrhea, Lower limb undergrowth, Brachydactyly	OMIM:612847
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Elevated circulating thyroid-stimulating hormone concentration, Short...	OMIM:612462
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Mesomelia	ORPHA:1277
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity	OMIM:162370
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta...	ORPHA:1927
Acromegaloid Facial Appearance Syndrome	Large hands, Micrognathia, Short 5th metacarpal, Tapered finger	OMIM:102150
Zechi-Ceide Syndrome	Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger	OMIM:612916
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Cryptorchidism, Ulnar bowing, Wide anterior fontanel, Short...	OMIM:619135
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma...	ORPHA:429
Hydrocephalus-Obesity-Hypogonadism Syndrome	Cubitus valgus, Azoospermia, Hypergonadotropic hypogonadism, Short 4th metacarpal	ORPHA:2183
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul...	OMIM:184260
Autoimmune Hypoparathyroidism	Increased bone mineral density, Cataract, Autoimmune hypoparathyroidism, Depression, Irritability...	ORPHA:36913
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept...	ORPHA:1319
Eng-Strom Syndrome	Camptodactyly of finger, Brachydactyly	ORPHA:1937
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Patent ductus arteriosus, Clinodactyly of the 5th finger, Short digit, ...	ORPHA:228190
Arthrogryposis, Distal, Type 1B	Foot joint contracture, Rocker bottom foot, Talipes equinovarus, Camptodactyly, Joint contracture...	OMIM:614335
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, External genital hypoplasia, Large carpal bones, Abnor...	ORPHA:99330
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee flexion, Calcaneov...	OMIM:615065
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Small hand, Ol...	OMIM:614813
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bowing, Femora...	OMIM:608940
Arthrogryposis, Distal, Type 1C	Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of finger, Crypt...	OMIM:619110
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Acrodysostosis 1 With Or Without Hormone Resistance	Neonatal epiphyseal stippling, Short metatarsal, Elevated circulating thyroid-stimulating hormone...	OMIM:101800
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab...	OMIM:617974
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma...	ORPHA:3121
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Hypogonadotropic hypogonadism, Micrognathia, Split hand, M...	OMIM:157900
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly	ORPHA:444051
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Joint subl...	ORPHA:2619
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Larsen Syndrome	Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Cryptorchidism, Talipes ...	OMIM:150250
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Abn...	ORPHA:65759
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Micrognathia, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, M...	OMIM:612626
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho...	OMIM:617405
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty...	ORPHA:2370
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E...	OMIM:616266
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Acrodysplasia Scoliosis	Spina bifida occulta, Brachydactyly	ORPHA:2956
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phal...	OMIM:609616
Osteoglophonic Dysplasia	Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacarpals, Short ...	OMIM:166250
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Rod-cone dystrophy, Infertility, Cataract	OMIM:300719
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Flared metaphysis, Short middle ph...	OMIM:156510
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Pes planus, Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar muscle atrophy, Fla...	OMIM:612350
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Short first metatarsal, Short 5th toe, Prominent fingerti...	OMIM:613684
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Hypochondroplasia	Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T...	OMIM:146000
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Secondary amenorrhea, Polycystic ovari...	ORPHA:3085
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal...	OMIM:124480
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc...	OMIM:156530
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Papilledema, Stenosis of the medullary cavity of the long bones, Hypoc...	ORPHA:93325
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cataract, Cortical subperiosteal resorption of humera...	ORPHA:94089
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Pes planus, Calcaneovalgus deformity, Genu recurvatum	OMIM:225320
Cohen Syndrome	Pes planus, Short metacarpal, Single transverse palmar crease, Decreased response to growth hormo...	OMIM:216550
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Abnormality of the knee, Broad hallux, External genital hypoplasia, Mi...	ORPHA:251028
Anauxetic Dysplasia 3	Short metacarpal, Hip subluxation, Wide anterior fontanel, Squared iliac bones, Femoral bowing, G...	OMIM:618853
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Patchy osteosclerosis, Cryptorchidism, ...	ORPHA:2323
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Cryptorchidism, Pseudohypoparathyroidism, Patellar hypoplasia, Brachydac...	ORPHA:464288
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ...	ORPHA:2928
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe...	ORPHA:3201
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb...	ORPHA:56304
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, Bilateral breast hypoplasia, ...	ORPHA:319675
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly	OMIM:600430
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati...	OMIM:241410
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Pes planus, Single transverse palmar crease, Monkey wrenc...	OMIM:615777
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, Femoral bowing, Abnormal ovarian morphology, Abnormality...	ORPHA:95699
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Camptobrachydactyly	Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ...	OMIM:114150
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip...	ORPHA:166016
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit...	ORPHA:2239
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Hypospadias, Single transverse palma...	OMIM:123450
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Papilledema, Increased bone mineral density, Transient hypophosphatemia, Deve...	OMIM:127000
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyper...	OMIM:603233
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Zechi-Ceide Syndrome	Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger	ORPHA:217017
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Phenobarbital Embryopathy	Hypospadias, Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiph...	ORPHA:93360
X-Linked Intellectual Disability, Hedera Type	Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore...	ORPHA:93952
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg...	ORPHA:3078
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Joint dislocation, Pes planus, Arachnodactyly, Sandal gap, Phalangeal dislocation,...	ORPHA:536532
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi...	ORPHA:1427
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Metatarsus adductus, Cryptorchidism, Calcaneovalgus deformity, Hypogonadism, Camp...	OMIM:612513
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S...	ORPHA:1772
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Three M Syndrome 3	Clinodactyly of the 5th finger, Slender long bone, Hip dysplasia, Prominent calcaneus	OMIM:614205
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Three M Syndrome 2	Scapular winging, Thin ribs, Slender long bone, Short 5th finger, Prominent calcaneus, Clinodactyly	OMIM:612921
Roifman-Chitayat Syndrome	Cone-shaped epiphysis, Arthritis, Short metacarpal, Short metatarsal	OMIM:613328
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Chst3-Related Skeletal Dysplasia	Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbow, Genu valgum, Irregular e...	ORPHA:263463
Trichorhinophalangeal Syndrome, Type I	Pes planus, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the ha...	OMIM:190350
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Small hand, Short foot, Hypogonadism, Decreased testicular size	ORPHA:261483
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost...	OMIM:615314
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Micrognathia, Cryptorchidism, Short...	ORPHA:3409
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Martsolf Syndrome 1	Pes planus, Short metacarpal, Hypogonadotropic hypogonadism, Micrognathia, Metatarsus adductus, S...	OMIM:212720
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Osteochondritis dissecan...	OMIM:165800
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Abruzzo-Erickson Syndrome	Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Ulnar deviation of f...	ORPHA:921
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Short third metatarsal, Camptodactyly of finger, Peroneal muscle atrophy, Ab...	ORPHA:324442
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Bifid scrotum, Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Roifman Syndrome	Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ...	OMIM:616651
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h...	ORPHA:2496
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Short metatarsal, Small hand, S...	OMIM:170390
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral bowing, Nar...	OMIM:616723
Keipert Syndrome	Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac...	OMIM:301026
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n...	OMIM:608154
Spondyloepiphyseal Dysplasia, Nishimura Type	Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly	OMIM:618618
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Abnormal foot morphology, Hypoplasia of the...	OMIM:184252
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Abnormal rib morphology, Postaxial foot p...	ORPHA:474
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos...	OMIM:203330
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
C Syndrome	Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyda...	OMIM:211750
Rudiger Syndrome	Single transverse palmar crease, Ovarian cyst, Bicornuate uterus, Micropenis, High axial triradiu...	OMIM:268650
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta...	ORPHA:973
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb...	OMIM:600325
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, Short 5...	OMIM:619638
Pitt-Hopkins Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p...	OMIM:610954
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Short long bone, Horizontal ribs, Brachydactyly	OMIM:615633
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal...	ORPHA:2900
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Larsen Syndrome	Finger syndactyly, Large joint dislocations, Craniosynostosis, Cryptorchidism, Accessory carpal b...	ORPHA:503
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology,...	ORPHA:63442
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
X-Linked Intellectual Disability, Miles-Carpenter Type	Hypogonadism, Rocker bottom foot	ORPHA:85283
Van Maldergem Syndrome 2	Bifid scrotum, Short fourth metatarsal, Ulnar deviation of the hand, Wide cranial sutures, Hyposp...	OMIM:615546
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Wormian bones, Micropenis, Brac...	OMIM:601224
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Nicolaides-Baraitser Syndrome	Short palm, Joint dislocation, Sandal gap, Cryptorchidism, Abnormal finger morphology, Clubbing o...	ORPHA:3051
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Large tarsal bones, Micrognathia, Premature osteoarthritis...	OMIM:215150
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Bilateral single transverse palmar creases, Cryptorchidis...	ORPHA:2377
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Abnormality of t...	OMIM:300244
Combined Oxidative Phosphorylation Defect Type 39	Ankle clonus, Prominent calcaneus, Cryptorchidism	ORPHA:565624
Müllerian Aplasia And Hyperandrogenism	Primary amenorrhea, Hypoplasia of the uterus, Cubitus valgus, Abnormal vagina morphology, Abnorma...	ORPHA:247768
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Marinesco-Sjögren Syndrome	Short palm, External genital hypoplasia, Coxa valga, Avascular necrosis of the capital femoral ep...	ORPHA:559
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal...	OMIM:602849
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly	ORPHA:221054
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Male pseudohermaphroditism, Abnormal shoulder mor...	ORPHA:1422
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Distal Deletion 10Q	Pes planus, Scapular winging, Prominent metopic ridge, Sandal gap, Single transverse palmar creas...	ORPHA:96148
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing	ORPHA:1858
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Micrognathia, Ambiguous genitalia, female, Primary amenorrhea, Deformed humer...	ORPHA:2975
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Cryptorchidism, Camptodactyly	OMIM:618393
Talonavicular Coalition	Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali...	OMIM:186750
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Irregul...	OMIM:250420
Microcephaly 27, Primary, Autosomal Dominant	Tapered finger, Metatarsus adductus, Cryptorchidism, Short finger, Clinodactyly of the 5th finger...	OMIM:619180
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the od...	OMIM:184250
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Van Maldergem Syndrome 1	Short fourth metatarsal, Wide cranial sutures, Hypospadias, Micrognathia, Abnormal foot morpholog...	OMIM:601390
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes	ORPHA:2611
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali...	ORPHA:2491
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Coxa vara, Arthritis, Congenital finger flexion contract...	OMIM:208250
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Cryptorchidism, Microgna...	OMIM:620073
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol...	ORPHA:2511
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Joint dislocation, Pes planus, Sandal gap, Recurrent shoulder dislocation, Genu re...	ORPHA:230851
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hypogonadism, Genu valgum, Ab...	ORPHA:1295
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Male pseudohermaphroditism, Short phalanx of finger, Brachydactyly	OMIM:600092
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Talipes equinovarus, Camp...	ORPHA:562528
Intellectual Disability, Wolff Type	Microretrognathia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Large hands, Clinodactyl...	ORPHA:3080
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Macular scar...	OMIM:239000
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Osteolysis involving t...	OMIM:166300
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ...	OMIM:304120
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita...	OMIM:276820
Autosomal Dominant Omodysplasia	Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Elbow dislocation, C...	ORPHA:93328
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Spastic Paraparesis And Deafness	Cataract, Hypogonadism	OMIM:312910
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, 2-3 toe syndactyly, Increased carrying angle, Cl...	OMIM:261990
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip dislocation, ...	OMIM:618395
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone...	OMIM:618883
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Hand clenching, Cryptorchidism, Rocker bottom foot, Micrognathia	OMIM:618766
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentration, Depre...	OMIM:614307
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,...	OMIM:617396
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Osteoarthritis, Brachydactyly	ORPHA:2762
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Micrognathia, Cryptorchidism, Midshaft hypospadias, Wormian bones, Anter...	ORPHA:2863
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, External genital hypoplasia, Micrognathia, Tibial bowing, Hypopl...	ORPHA:96334
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Par...	OMIM:617994
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Patent ductus arteriosus, Short long bo...	OMIM:618961
Dysplasia Epiphysealis Hemimelica	Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Osteoarthritis, Abnormal femur m...	ORPHA:1822
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Alopecia-Intellectual Disability Syndrome	Split hand, Hypergonadotropic hypogonadism, Brachydactyly	ORPHA:2850
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of...	ORPHA:444002
Scholte Syndrome	Acromicria, Small hand, Patellar hypoplasia, Short foot, Micropenis, Decreased testicular size	OMIM:300977
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, External genital hypoplasia, Narrow palm, Small hand, Short foot, ...	ORPHA:177910
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Omodysplasia 2	Short humerus, Dyspareunia, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular ...	OMIM:164745
Leukoencephalopathy With Vanishing White Matter 2	Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Cataract	OMIM:620312
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Cryptorchidism, Small hand, Narrow palm, Micropenis, Short fo...	OMIM:615547
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Postax...	OMIM:615986
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Hydrocele testis, Brachydactyly, Single transverse palmar crease, Adducted thumb	OMIM:620062
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, Delayed prox...	ORPHA:353298
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly	ORPHA:1436
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Decreased nerve...	ORPHA:101082
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Cli...	OMIM:201000
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cryptorchidism, Clinodac...	OMIM:618143
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrod...	ORPHA:166035
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon...	OMIM:620269
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Rocker bottom foot, Micrognathia	OMIM:616570
Distal Symphalangism	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ...	ORPHA:3248
Multiple Synostoses Syndrome 4	Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Short dis...	ORPHA:86822
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Pes planus, Sandal gap, Hypospadias, Cryptorchidism, Small hand, Short foot, Hypogonadism, Microp...	OMIM:300354
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Aplasia/Hypoplasia of the ribs, Iliac crest serration, Flari...	ORPHA:168549
Temtamy Syndrome	Pes planus, Micrognathia, Short toe, Genu varum, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1777
Trichothiodystrophy 9, Nonphotosensitive	Brachydactyly	OMIM:619692
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Hypoplasia of the odontoid process, Squared i...	OMIM:258480
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal ep...	ORPHA:1458
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Multipl...	OMIM:226960
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ...	OMIM:601358
Summitt Syndrome	Syndactyly, Craniosynostosis	OMIM:272350
Cornelia De Lange Syndrome 2	Proximal placement of thumb, Limited elbow movement, Micrognathia, Small hand, Short foot, Clinod...	OMIM:300590
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph...	ORPHA:94090
Maternal Uniparental Disomy Of Chromosome X	Camptodactyly of finger, Rocker bottom foot, Gonadal tissue inappropriate for external genitalia ...	ORPHA:261519
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Broad ribs, Rhizomelia, Iliac crest serration, Hypoplasia of...	ORPHA:239
Ollier Disease	Micromelia, Precocious puberty, Abnormal cartilage morphology, Multiple enchondromatosis, Abnorma...	ORPHA:296
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Aggressive behavior, Micropenis	ORPHA:75858
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln...	ORPHA:2741
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Abnormal diaphysis morphology, Cl...	ORPHA:1515
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Supernumerary nipple, Small h...	ORPHA:1001
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Depression, Primary gonadal insuf...	ORPHA:411590
Erythrokeratodermia Variabilis	Brachydactyly, Abnormal testis morphology, Patchy palmoplantar hyperkeratosis, Tapered finger	ORPHA:317
Greenberg Dysplasia	Micromelia, Micrognathia, Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia ...	OMIM:215140
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide a...	ORPHA:15
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Joint dislocation, Microretrognathia, Short 4th metacarpal, Short clavicles	OMIM:606220
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Diabetes mellitus, Optic atrophy, Depression, Type II diabetes mellitus	OMIM:614296
1Q21.1 Microduplication Syndrome	Cataract, Hypospadias, Cryptorchidism, Talipes equinovarus, Attention deficit hyperactivity disorder	ORPHA:250994
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Laron Syndrome	Hypoplasia of penis, Micrognathia, Short toe, Abnormality of the elbow, Osteoarthritis, Brachydac...	ORPHA:633
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Gonadal dysgenesis, Hypogonadism, Talipes...	ORPHA:3306
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Micrognathia, Cryptorchidism, Hip dysplasia,...	OMIM:611890
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flaring of ...	OMIM:271640
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Crypt...	OMIM:617137
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Brachydactyly, Short palm	OMIM:618522
Calciphylaxis	Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Angioid streaks of the fundus, Conjunctival whitish salt-like deposits, Hyperostosis,...	OMIM:211900
Mccune-Albright Syndrome	Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert...	ORPHA:562
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus deformity, Abnormality of t...	ORPHA:521445
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Hypoplasia...	OMIM:173800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Micrognathia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad me...	OMIM:266920
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Cryptorchidism, Rhizo-meso-acrom...	ORPHA:163654
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pes cavus	ORPHA:746
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Osteoarthritis, Abnormal di...	ORPHA:1657
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Cryptorchidism, Short thumb, Dislocated radial head, Brac...	ORPHA:401935
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Abnormality of the uterus, Complete duplicatio...	ORPHA:59315
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental...	ORPHA:2119
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, Postaxial polydactyly, Brachydactyly	OMIM:600151
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating parathyroid hormone level...	OMIM:619073
Cleidocranial Dysplasia 2	Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v...	OMIM:620099
Pontocerebellar Hypoplasia, Type 12	Talipes equinovarus, Overlapping fingers, Rocker bottom foot, Micrognathia	OMIM:618266
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Hypospadias, Bifid u...	OMIM:107480
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul...	OMIM:601198
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Clitoral hypoplasia, Foot olig...	OMIM:305600
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis...	ORPHA:2249
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Abnormal vertebral segmen...	OMIM:244600
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chondrocytes, Flat acet...	OMIM:256050
Steel Syndrome	Carpal synostosis, Pes planus, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Pes ca...	OMIM:615155
Wiedemann-Steiner Syndrome	Pes planus, Tapered finger, Micrognathia, Contracture of the distal interphalangeal joint of the ...	OMIM:605130
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Pes planus, Coxa valga, Micrognathia, Advanced ossification o...	OMIM:618363
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se...	ORPHA:2410
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Autosomal Dominant Hypocalcemia	Optic atrophy, Reduced bone mineral density, Depression, Hyperphosphatemia, Hypocalcemia, Hypomag...	ORPHA:428
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion co...	OMIM:259600
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ...	OMIM:618569
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Pitt-Hopkins Syndrome	Pes planus, Single transverse palmar crease, Supernumerary nipple, Tapered finger, Cryptorchidism...	ORPHA:2896
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Pes cavus, Short 4th metacarpal, Short...	OMIM:169400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Weill-Marchesani Syndrome 2	Short metacarpal, Short metatarsal, Broad palm, Elbow flexion contracture, Short finger, Broad ph...	OMIM:608328
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid gl...	ORPHA:2969
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormality of retinal pigmentation, Elbow dislocation, Coxa vara, Irregula...	ORPHA:1824
Anauxetic Dysplasia 1	Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra...	OMIM:607095
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Premature ovarian insufficiency, Retinal dystrophy, Cataract...	ORPHA:3156
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Micrognathia, Long fingers, Short toe, ...	OMIM:618659
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Craniosynostosis, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of th...	OMIM:619451
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp...	OMIM:235200
Neurogenic Arthrogryposis Multiplex Congenita	Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathia, Equinovarus deformi...	ORPHA:1143
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc...	OMIM:143095
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Qazi-Markouizos Syndrome	Cryptorchidism, Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplastic iliac wing, Micropenis, Pterygium, Short phal...	OMIM:263650
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, E...	OMIM:204000
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Bilateral camptodactyly, Prominent fingertip pads, Hip ...	OMIM:619557
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Macroorchidism, Brachydactyly	ORPHA:776
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Male infertility, Premature ovarian insufficiency, C...	ORPHA:79239
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy...	OMIM:310600
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog...	ORPHA:2145
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Pancreatic fibrosis, Horizontal ribs, Pancreatic cysts, Early ossificatio...	OMIM:208500
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Flat acet...	OMIM:269250
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Anterior rib punctate ca...	ORPHA:1426
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, ...	OMIM:614592
Combined Oxidative Phosphorylation Deficiency 2	Patent ductus arteriosus, Brachydactyly	OMIM:610498
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse palmar crease,...	OMIM:305400
Microcephaly-Albinism-Digital Anomalies Syndrome	Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes	ORPHA:2513
Galactosemia Iv	Cataract, Hypergalactosemia, Prolonged neonatal jaundice	OMIM:618881
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus	OMIM:266500
Gorlin Syndrome	Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Pla...	ORPHA:377
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Short foot, Acetabular...	OMIM:614376
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Bifid...	OMIM:256520
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Abnormality of the elbow, Brachydactyly	ORPHA:2701
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elev...	ORPHA:99845
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchidism, Capitate-...	OMIM:206920
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Premature ovarian insufficiency, Plantar hyperkeratosis, Metaphyseal sclerosis,...	ORPHA:221008
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Hip osteoarthritis, Flattened metacarpal heads	OMIM:271600
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology, Weakness of the intrinsic hand muscles, Elevated circulating creatine ...	OMIM:160565
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Cryptorchidism, Small hand, Sho...	ORPHA:1786
Acrofrontofacionasal Dysostosis	Bifid scrotum, Hypospadias, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, S...	ORPHA:1784
Cystinosis	Corneal opacity, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Abnormal re...	ORPHA:213
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Woolly Hair Nevus	Precocious puberty, Persistent pupillary membrane, Heterochromia iridis, Brachydactyly	ORPHA:79414
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Down-sloping shoulders, Abnormal retinal vascular morphology...	ORPHA:1390
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Wormian bones, Anterior rib cupping, Hypoplasia of the odontoid process, Metaphyseal widening, Br...	OMIM:300232
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cataract, Optic disc pallor, Cryptorchidism	OMIM:613730
Cocaine Embryofetopathy	Encephalocele, Short distal phalanx of finger	ORPHA:1911
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Abnormality of the wrist, ...	ORPHA:3265
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Polycystic ovaries, Gonadal dysgenesis, Large hands, ...	ORPHA:1770
Luscan-Lumish Syndrome	Long foot, Irregular menstruation, Advanced ossification of carpal bones, Polycystic ovaries	OMIM:616831
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodyspl...	OMIM:250410
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Primary amenorrhea, Ambiguous genitalia, Clitoral hypertrophy, Ulnar r...	OMIM:264270
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t...	ORPHA:3138
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, Small hand, Spina bifida occulta, Short 4th metacarpal	ORPHA:1787
Wilson-Turner Syndrome	Cataract, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Small hand, Short foot, ...	ORPHA:3459
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli...	OMIM:614091
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo...	ORPHA:314795
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Congenital hip dislocation, Rocker bottom foot, Single transverse palmar crease, Short 5th finger...	OMIM:133705
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho...	OMIM:615503
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Kn...	OMIM:601559
Tonne-Kalscheuer Syndrome	Pes planus, Hypospadias, Micrognathia, Cryptorchidism, Broad thumb, Micropenis, Decreased testicu...	OMIM:300978
Galactosemia Ii	Cataract, Hypergalactosemia, Prolonged neonatal jaundice	OMIM:230200
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal...	ORPHA:791
Myotonic Dystrophy 1	Cataract, Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, T...	OMIM:160900
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Sandal gap, Short toe, Clinodactyly of the 5th finger, Spina bifida occulta, Sh...	OMIM:617877
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Bowing of the legs, Subperiosteal bone resorption, Enlargement of the wrists, D...	OMIM:264700
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h...	OMIM:268310
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod...	OMIM:148820
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Broad thumb, Brac...	OMIM:612813
Osteoglosphonic Dysplasia	Rhizomelia, Craniosynostosis, Micrognathia, Cryptorchidism, Brachydactyly	ORPHA:2645
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Adducted thumb, Ulnar deviation of...	ORPHA:1147
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Cryptorchidism, Camptodactyly, Micropenis, Absent pal...	OMIM:614230
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal phalanx of finger...	OMIM:601370
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, 2-3 f...	ORPHA:3152
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration, Jaundice, ...	OMIM:614876
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Microretrognathia, Scapular winging, Pes planus, Single transverse palmar crea...	OMIM:618870
Alagille Syndrome	Keratoconus, Hepatomegaly, Hypoplasia of the ulna, Corneal dystrophy, Cryptorchidism, Abnormal pu...	ORPHA:52
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ...	ORPHA:1581
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Optic atrophy, Epiphyseal stippling, Short distal phalanx of fin...	ORPHA:1914
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ...	ORPHA:2083
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontanel, Tibial bowing, Fem...	OMIM:610915
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Craniosynostosis, Coxa valga, Holoprosencephaly, Clinodactyl...	ORPHA:2163
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Short foot, Ankle clonus, Hammertoe, Camptodactyly, Clinodactyly, Pe...	OMIM:275900
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti...	OMIM:258860
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Hypogonadism, D...	OMIM:300869
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Short to...	ORPHA:1327
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia involving bones o...	ORPHA:221016
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Peters-Plus Syndrome	Hypoplasia of the vagina, Single transverse palmar crease, Limited elbow movement, Proximal place...	OMIM:261540
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral muscle hypoplasia/aplasia, Radi...	OMIM:136760
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Refsum Disease	Short metacarpal, Abnormal foot morphology, Hammertoe, Abnormal epiphysis morphology, Pes cavus	ORPHA:773
6Q25 Microdeletion Syndrome	Camptodactyly of finger, Rocker bottom foot, External genital hypoplasia, Micrognathia, Clinodact...	ORPHA:251056
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Micrognathia, Wrist swelling, Slender long bone, Metacarpal osteolysis, ...	ORPHA:2774
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Cataract, Cryptorchidism, Dysphagia,...	OMIM:618958
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,...	ORPHA:570
Rin2 Syndrome	Pes planus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, Brac...	ORPHA:217335
Catel-Manzke Syndrome	Joint dislocation, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease,...	OMIM:616145
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, Hydrometrocolpo...	ORPHA:2473
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone d...	ORPHA:363741
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c...	ORPHA:485405
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, Irritability, Abnormal periph...	ORPHA:457205
15Q24 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Proximal placement of thumb, ...	ORPHA:94065
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged...	ORPHA:3404
Tarsal-Carpal Coalition Syndrome	Abnormality of the ankle, Tarsal synostosis	ORPHA:1412
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Micropenis, Distal sho...	OMIM:146510
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Premature ovarian insufficiency, Optic atrophy, Depression, Amenorrhea	OMIM:619425
Warburg Micro Syndrome 1	Overlapping toe, External genital hypoplasia, Cryptorchidism, Optic atrophy, Osteoporosis, Develo...	OMIM:600118
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Elevated circulating creatine kinase concentration, ...	ORPHA:94093
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Vaginal hernia, Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vert...	ORPHA:2916
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Bowing of the legs, Subperiosteal bone resorption, Enlargement of the wrists, D...	OMIM:277440
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Talipes equinovarus, Re...	OMIM:616171
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic...	ORPHA:1225
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Optic atrophy, Depression, Dysphagia, Sensory axonal neuropathy	ORPHA:329314
Basal Cell Nevus Syndrome 1	Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Palmar pits, Plantar pits, Irregular o...	OMIM:109400
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Short palm	ORPHA:3238
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Coffin-Siris Syndrome 2	Cryptorchidism, Brachydactyly, Sandal gap, Short distal phalanx of finger	OMIM:614607
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Chondrodysplasia Punctata 1, X-Linked Recessive	Epiphyseal stippling, Hypogonadism, Short distal phalanx of finger	OMIM:302950
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thumb, Flared metaphysis, Hip...	OMIM:610758
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Hall-Riggs Syndrome	Metaphyseal dysplasia, Brachydactyly	OMIM:234250
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
20P13 Microdeletion Syndrome	Finger syndactyly, Wide anterior fontanel, Polydactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Cone-shaped epiphysis, Palmoplantar keratoderma, Arachnodactyly, Brachydactyly	ORPHA:2824
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta...	OMIM:224400
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis	ORPHA:2010
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Irritability,...	OMIM:264470
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Aplasia of the...	ORPHA:2879
Coffin-Lowry Syndrome	Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, ...	ORPHA:192
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Premature thelarche, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis...	ORPHA:371428
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct...	ORPHA:249
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Abnormal metacarpophalangeal joint morphology, Hypogonadotropic...	ORPHA:465508
Opsismodysplasia	Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Abnormal epiphysis morphology, Abnor...	ORPHA:2746
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath...	ORPHA:783
Kid Syndrome	Coxa valga, Equinus calcaneus, Patellar hypoplasia, Knee flexion contracture, Arthritis, Palmopla...	ORPHA:477
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Small scrotum, Anterior pituitary hypoplasia, Micrognathia, Cr...	ORPHA:264200
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Hypogonadism	ORPHA:1466
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Enlargement of ...	ORPHA:289157
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration, Dysp...	OMIM:313200
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Fetal Akinesia Deformation Sequence 3	Talipes, Overlapping fingers, Rocker bottom foot, Micrognathia	OMIM:618389
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Flared m...	ORPHA:50945
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Bilateral talipes equinovarus, 2-3 toe syndactyly, Pes valgus, Equinus calcaneus	ORPHA:522077
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Opt...	OMIM:602271
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad...	ORPHA:2662
Pseudoaminopterin Syndrome	Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow moveme...	ORPHA:221120
Albers-Schönberg Osteopetrosis	Joint dislocation, Facial palsy, Hydrocephalus, Osteoarthritis, Optic atrophy, Genu valgum, Arthr...	ORPHA:53
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Ge...	OMIM:615630
Familial Dysautonomia	Abnormal peritoneum morphology, Hyponatremia, Orthostatic hypotension, Corneal opacity, Abnormal ...	ORPHA:1764
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Genu valgum, Hypocalcemia, ...	ORPHA:93160
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delaye...	ORPHA:93346
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ...	ORPHA:481
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ...	OMIM:221900
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism, Genu ...	ORPHA:1381
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Mohr Syndrome	Syndactyly, Wormian bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, F...	OMIM:252100
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th...	ORPHA:137834
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Hip dysplasia, Abnorm...	ORPHA:2655
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Al-Raqad Syndrome	Sandal gap, Brachydactyly	OMIM:616459
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt...	OMIM:619339
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Talip...	OMIM:236500
Hypogonadism-Cataract Syndrome	Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal...	OMIM:240950
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Amelia, Testicular atrophy	OMIM:601163
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depres...	OMIM:261600
Riboflavin Transporter Deficiency	Optic disc pallor, Iris hypopigmentation, Facial palsy, Aggressive behavior, Abnormality of macul...	ORPHA:97229
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Hypoplasia of the odontoid process, Hip dislocation, Flattened epiphysis,...	OMIM:183900
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Micrognathia, Cryptorchidism, Short foot, Talipes calcaneovarus, Large...	OMIM:300534
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Geleophysic Dysplasia 1	Short palm, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irregular capital f...	OMIM:231050
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Fgfr2-Related Bent Bone Dysplasia	Clitoral hypertrophy, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lo...	ORPHA:313855
Marfan Syndrome	Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Genu re...	OMIM:154700
Atypical Pantothenate Kinase-Associated Neurodegeneration	Impulsivity, Optic atrophy, Depression, Irritability, Compulsive behaviors, Dysphagia, Emotional ...	ORPHA:216873
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Abnormal rib morphology, C...	ORPHA:93317
Galactosemia I	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	OMIM:230400
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thumb	ORPHA:1794
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Clinodactyly of the 5th finger, Rocker bottom foot	OMIM:618506
Wolfram Syndrome 1	Cataract, Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Optic atrophy, Limited mobility ...	OMIM:222300
Norrie Disease	Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Abnormal repeti...	ORPHA:649
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration, Shortening of all distal phalanges of the fingers, Brac...	ORPHA:79320
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Thin bony cortex, Bowing of the legs, Enlargement of the wrists, Delayed epiphyseal ossification,...	OMIM:600081
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Craniosynostosis, Absent thumb, Micrognathia, Cryptorchidism...	ORPHA:96097
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Micrognathia, Cryptorchidism, Elbow flexion contracture, Knee fle...	OMIM:214150
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Trapezoidal distal femoral cond...	OMIM:307800
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo...	OMIM:305620
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly o...	OMIM:619269
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Single transverse palmar crease, Metatar...	OMIM:214110
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Rocker bottom foot	OMIM:619072
Genitopalatocardiac Syndrome	Hypospadias, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Male pseudohermaphroditism...	ORPHA:2075
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at...	OMIM:122860
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Abnormality of the ovary, Postaxia...	OMIM:209900
Cach Syndrome	Premature ovarian insufficiency, Cataract, Optic atrophy, Nonketotic hyperglycinemia, Secondary a...	ORPHA:135
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Thin bony cortex, Decreased circulating parathyroid hormone level, Bowing of the legs, Abnormal c...	OMIM:241530
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Abnormal foot morphology, Large hand...	ORPHA:3219
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Cryptorchidism, Wide anterior...	OMIM:300963
Arthrogryposis, Distal, Type 2A	Joint dislocation, Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, ...	OMIM:193700
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi...	ORPHA:794
Trichorhinophalangeal Syndrome Type 2	Joint dislocation, Bilateral single transverse palmar creases, Talipes, Avascular necrosis of the...	ORPHA:502
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Rocker bottom foot, Single transverse palmar crease, Camptodactyly of ...	OMIM:619951
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh...	ORPHA:208441
Jansen-De Vries Syndrome	Short foot, Small hand, Brachydactyly	OMIM:617450
Cleidocranial Dysplasia	Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph...	ORPHA:1452
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Proximal placement of thumb, Micrognathia, Cryptorchidism, Wide anterior...	OMIM:217980
Bardet-Biedl Syndrome 6	Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Vaginal atresia	OMIM:605231
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Spina bifida occulta, Fi...	ORPHA:2911
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Delayed closure of the anterior fontanelle, Micrognathia, Wide anterior fontanel, Short toe, Recu...	OMIM:225410
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidism, Short 5th fin...	ORPHA:397590
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Micropenis	OMIM:610756
Feingold Syndrome	Hallux valgus, Toe syndactyly, Patent ductus arteriosus, Deviation of the 2nd finger, Clinodactyl...	ORPHA:1305
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ...	ORPHA:1512
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas...	OMIM:181450
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Diabetes mellitus, Increased circulating ferritin concentration, Elevated...	OMIM:606069
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli...	ORPHA:1005
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Anomaly of lower limb diaphyses, Pes planus, Arachnodacty...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Anomaly of lower limb diaphyses, Pes planus, Arachnodacty...	ORPHA:363958
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Antecubital pterygium, Fus...	OMIM:618469
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Cree Mental Retardation Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Micrognathia, Cry...	OMIM:606851
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Cryptorchidism, Micropenis, Mesomelia, Clitoral hypoplasia, Camptodacty...	OMIM:616894
Kniest Dysplasia	Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossif...	OMIM:156550
Suleiman-El-Hattab Syndrome	Microretrognathia, Single transverse palmar crease, Cryptorchidism, Polydactyly, Clinodactyly, Br...	OMIM:618950
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Short metacarpal, Deep palmar crease	OMIM:617190
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Hypospadias, Micrognathia, Cryptorchidism, Short middle phalanx of ...	OMIM:613823
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:613604
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Leukoencephalopathy With Vanishing White Matter 4	Primary amenorrhea, Optic atrophy, Secondary amenorrhea	OMIM:620314
Martsolf Syndrome 2	Cataract, Overlapping toe, Camptodactyly of finger, Hypogonadotropic hypogonadism, Developmental ...	OMIM:619420
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Brachydactyly	OMIM:618265
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx, Partial duplic...	OMIM:616331
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino...	OMIM:619762
Temtamy Syndrome	Pes planus, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Brachydactyly	OMIM:218340
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Wormian bo...	OMIM:608612
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Shor...	OMIM:135100
Leukodystrophy, Hypomyelinating, 21	Cryptorchidism, Optic atrophy, Hypogonadotropic hypogonadism	OMIM:619310
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Coffin-Siris Syndrome 6	Wormian bones, Clinodactyly, Micrognathia, Brachydactyly	OMIM:617808
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Diabetes mellitus, Hypertriglyceridemia, Elev...	ORPHA:2088
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont...	OMIM:603543
Rhyns Syndrome	Radial bowing, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, S...	OMIM:602152
Say Syndrome	Ulnar deviation of the 3rd finger, Micrognathia, Short distal phalanx of finger, Tapered finger	OMIM:181180
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Cubitus valgus, Short distal phalan...	OMIM:617157
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f...	ORPHA:488642
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachydactyly, Optic atrophy, Hydrocephalus, Abnormal metacarpal morphology	ORPHA:93262
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Annular pancreas, 2-3 toe syndactyly, Knee flexion cont...	OMIM:618162
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Increased carrying angle, Brachydactyly	OMIM:247410
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Muenke Syndrome	Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran...	ORPHA:53271
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S...	OMIM:620072
Ellis-Van Creveld Syndrome	Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Cryptorchidism, Epispadias, Genu...	OMIM:225500
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Brachydactyly, Rhizomelia, Broad thumb, Mesomelia	ORPHA:171866
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Elevated circulating creatine kina...	ORPHA:79095
Short Syndrome	Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal pupil morphology, Hypoplasia ...	ORPHA:3163
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ...	OMIM:617425
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne...	ORPHA:2557
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Abnormal metaphysis morphology, Micromelia, Brachydactyly	ORPHA:93274
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Metaphyseal widening, Hypophosphatemic rickets, Male hypogonadism, Mal...	OMIM:219800
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone ...	ORPHA:99879
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Cataract, Sandal gap, Broad hallux, Optic atrophy, Ectopia pupillae, Astigmatism, ...	OMIM:618727
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ...	OMIM:607323
Meckel Syndrome 12	Rocker bottom foot, Micrognathia, Antecubital pterygium, Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cataract, Micromelia, Cryptorchidism, Decreased calvarial ossification, Ambi...	ORPHA:2772
Fraser-Like Syndrome	Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe	OMIM:229230
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Optic disc pallor, Facial palsy, Splenomegaly, Cran...	OMIM:259720
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac...	ORPHA:93296
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Vaginal hernia, Broad thumb, Cataract	ORPHA:3173
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Retinal dystrophy, Proximal placement of thumb, Sclerocornea, Crypto...	ORPHA:139471
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Hypophosphatemic Rickets, X-Linked Recessive	Thin bony cortex, Osteomalacia, Bowing of the legs, Enlargement of the wrists, Delayed epiphyseal...	OMIM:300554
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Brachydactyly, Short distal phalanx of finger	ORPHA:1563
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Cryptorchidism, Deep palmar crease, D...	ORPHA:1752
Floating-Harbor Syndrome	11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Prominent m...	OMIM:136140
Gracile Bone Dysplasia	Flared metaphysis, Thin ribs, Slender long bone, Micropenis, Brachydactyly	OMIM:602361
Hall-Riggs Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2107
Frank-Ter Haar Syndrome	Bowing of the long bones, Delayed cranial suture closure, Micrognathia, Metatarsus adductus, Wide...	OMIM:249420
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Talipes calcaneovalgus, Knee flexion contracture, Intercrural pterygium, Camptodact...	OMIM:265000
Wagr Syndrome	Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th...	ORPHA:893
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Hyperins...	ORPHA:79237
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th...	OMIM:618914
Diencephalic Syndrome	Abnormality of the hypothalamus-pituitary axis, Large hands, Long penis, Optic atrophy	ORPHA:1672
Spinocerebellar Ataxia, Autosomal Recessive 20	Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly	OMIM:616354
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Brachydactyly	ORPHA:436245
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Rhegmatogenous retinal detachment, Enlarged joints, Abnormality ...	ORPHA:485
Galactose Mutarotase Deficiency	Hepatomegaly, Cataract, Cholestasis, Hypergalactosemia, Decreased liver function	ORPHA:570422
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Tarsal synostosis, Posterior fusion of lumbosacral vertebrae	ORPHA:2064
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Craniosynostosis 2	Bicoronal synostosis, Craniosynostosis, Metopic synostosis, Triphalangeal thumb, Wormian bones, U...	OMIM:604757
Hajdu-Cheney Syndrome	Hypospadias, Micrognathia, Absent frontal sinuses, Cryptorchidism, Osteolytic defects of the phal...	OMIM:102500
Chand Syndrome	Short fifth metatarsal, Imperforate hymen	ORPHA:1401
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal rib morphology, Sandal gap, Brachydactyly	ORPHA:2180
Chilton-Okur-Chung Neurodevelopmental Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Hypospadias, Single transverse palma...	OMIM:619841
Endove Syndrome, Limb-Brain Type	Triangular tibia, Toe syndactyly, Talar aplasia, Aplasia of the 3rd finger	OMIM:619218
Mosaic Trisomy 1	Long toe, Broad toe, Microretrognathia, Toe syndactyly, Arachnodactyly, Single transverse palmar ...	ORPHA:1692
Campomelia, Cumming Type	Bowing of the long bones, Micromelia, Pancreatic cysts, Abnormal rib morphology, Clubbing of toes...	ORPHA:1318
Arteriosclerosis, Severe Juvenile	Central fundal arteriolar microaneurysms, Hip dysplasia, Central retinal vessel vascular tortuosi...	OMIM:208060
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Optic a...	ORPHA:1173
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Infantile Systemic Hyalinosis	Camptodactyly of finger, Micromelia, Polycystic ovaries, Short palm, Brachydactyly	ORPHA:2176
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Brachydactyly, Drumstick terminal phalanges	OMIM:612938
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Optic atrophy, Cutaneous syn...	OMIM:272440
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Brachydactyly	ORPHA:3218
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibial bowing, Congenital bilateral hip d...	ORPHA:453510
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Short middle phalanx of finger	OMIM:309620
Dubowitz Syndrome	Hypoparathyroidism, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Hypospadias, Abn...	ORPHA:235
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Optic atrophy, Adrenal medullary hypoplasia, Depression, Genu valgum, Astigmatism	OMIM:248000
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran...	OMIM:303600
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Acrocraniofacial Dysostosis	Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Ulnar deviation of finger, Genu valgu...	ORPHA:949
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Cataract, Single transverse palmar crease, Aggressive behavior, Cr...	OMIM:608093
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Micrognathia, Brachydactyly	OMIM:618381
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ...	ORPHA:90652
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circ...	OMIM:239200
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Primary adrenal insufficiency, Abno...	ORPHA:44
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Pallister-Hall Syndrome	Small scrotum, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the uterus, Microretrog...	ORPHA:672
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Unilateral breast hypoplasia, ...	OMIM:304110
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino...	OMIM:618529
Smith-Magenis Syndrome	Pes planus, Broad palm, Short palm, Abnormal forearm morphology, Brachydactyly	OMIM:182290
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor...	OMIM:152950
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Craniosynostosis, Bifid uterus, Supernumerary nipple, Aplasia/Hypoplasia involving bo...	ORPHA:1521
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,...	ORPHA:974
Triploidy	Hepatomegaly, Finger syndactyly, Hypoplasia of penis, Hypospadias, Cataract, Abnormality of the p...	ORPHA:3376
Hypophosphatemic Bone Disease	Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Hypospadias, External genital hypoplasia, Precocious pu...	ORPHA:2588
Waardenburg Syndrome Type 3	Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Abnormality of ...	ORPHA:896
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Sho...	OMIM:615789
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Toe syndactyly, Single transverse palmar crease, Proximal placement of thumb, Limited elbow movem...	OMIM:610759
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyposp...	ORPHA:2959
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternu...	OMIM:620076
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Papilledema, Hypercholesterolemia, Postaxial polydactyly, Bilatera...	OMIM:619471
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased testicular size, Overlapping toe, Broad hallux, Hypogonadotropic hypogonadism, Cryptorc...	ORPHA:293967
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge...	ORPHA:989
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Micrognathia, Bilateral cryptorchidism, Central Y-shaped metac...	ORPHA:2754
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat...	OMIM:615349
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Aplasia of the epiglottis, C...	OMIM:617088
Primary Ciliary Dyskinesia	Male infertility, Clubbing, Abnormal sperm motility, Female infertility	ORPHA:244
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Absent radius, Pre...	ORPHA:233
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Cryptorchidism, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly	OMIM:619123
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Enlarged joints, Hypospadias, Avascular necros...	ORPHA:2044
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
4H Leukodystrophy	Cataract, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, A...	ORPHA:289494
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati...	OMIM:610198
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, Camptodac...	OMIM:601353
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Bea...	ORPHA:89936
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Palmoplantar hyperk...	OMIM:231550
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Rhizomelia, Hypospadias, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcor...	OMIM:615877
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Brachydactyly	OMIM:614526
Craniofacioskeletal Syndrome	Pes planus, Absent gallbladder, Hypospadias, Micrognathia, Cryptorchidism, Hypoplastic frontal si...	OMIM:300712
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612964
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia	OMIM:193100
Stankiewicz-Isidor Syndrome	Hyperactivity, Hypospadias, Absent thumb, Short thumb, Cryptorchidism, 2-3 toe syndactyly, Pineal...	OMIM:617516
Microcephaly-Capillary Malformation Syndrome	Clinodactyly, Brachydactyly, Short distal phalanx of finger	OMIM:614261
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, De...	OMIM:271245
Zellweger Syndrome	Hepatomegaly, Posterior embryotoxon, Cataract, Abnormal chorioretinal morphology, Hypospadias, Co...	ORPHA:912
Pycnodysostosis	Persistent open anterior fontanelle, Rhizomelia, Decreased response to growth hormone stimulation...	ORPHA:763
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Chorioretinal dysplasia, Hypoammonemia, Abnormal pupil morphology, Lentiglob...	ORPHA:534
Alexander Disease	Microcoria	OMIM:203450
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Precocious puberty, Coxa vara, Narrow pelvis bone, Abnormal epiphysis morphology, Hyp...	ORPHA:2637
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal fallopian tube morphology, Rocker bottom foot, Micromelia, Camptoda...	ORPHA:99776
Nephronophthisis 11	Anisocoria, Polydipsia, Hepatic fibrosis, Retinal degeneration	OMIM:613550
Orthostatic Hypotension 1	Retrograde ejaculation, Reduced circulating prolactin concentration, Brachydactyly	OMIM:223360
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Hypospadias, External genital hypoplasia, Aplastic ...	ORPHA:2658
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, ...	OMIM:614225
Genitopatellar Syndrome	Hip contracture, Clitoral hypertrophy, Congenital hip dislocation, Small scrotum, Enlarged labia ...	OMIM:606170
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ...	ORPHA:157215
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly	ORPHA:508542
Leukoencephalopathy With Vanishing White Matter 1	Premature ovarian insufficiency, Decreased circulating progesterone, Optic atrophy, Primary ameno...	OMIM:603896
Chromosome Xp11.3 Deletion Syndrome	Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ...	OMIM:300578
Pycnodysostosis	Persistent open anterior fontanelle, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Ost...	OMIM:265800
Congenital Fibrosis Of Extraocular Muscles	Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hand oligodactyly, Anisocoria, A...	ORPHA:45358
Hsd10 Mitochondrial Disease	Restlessness, Elevated circulating tiglylglycine concentration, Aggressive behavior, Optic atroph...	OMIM:300438
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ...	ORPHA:496790
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Dent Disease 2	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:300555
Short-Rib Thoracic Dysplasia 12	Ambiguous genitalia, Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Short foot,...	OMIM:269860
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Osteomalacia, Primary hyperparathyroidism, Hypermagnesemia, Depression, Hypophosph...	OMIM:600740
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Cryptorchidism, Craniosynostosis, Brachydactyly	ORPHA:457193
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Ambiguous genitalia, Hypoplastic labia majora, Cutaneous finger...	OMIM:200110
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas...	ORPHA:1507
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Hypospadias, Short long bone, Short palm, Bicoronal synostosis, Brachydactyly	OMIM:619184
Melnick-Needles Syndrome	Bowing of the long bones, Coxa valga, Micrognathia, Hip dislocation, Abnormal rib morphology, Con...	ORPHA:2484
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Hy...	ORPHA:699
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Short foot, Anterior synechiae of...	ORPHA:96125
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab...	ORPHA:755
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Hyperextensibility of the knee, Micrognathia, Palmoplantar hyperkeratosis, Tibial ...	OMIM:601812
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hypoparathyroidism, Bowing of the long bones, Hypercalcemia, Metaphyseal chondrodyspl...	OMIM:156400
Dysostosis, Stanescu Type	Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Micromelia, Abnorma...	ORPHA:1798
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
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
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Optic atrophy, Hepatosplenomegaly, Hepatic fibrosis, Talipes equinovarus	ORPHA:466794
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Abnormal rib morpho...	ORPHA:3015
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ...	ORPHA:99413
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm...	ORPHA:3194
Mosaic Monosomy X	Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ...	ORPHA:99228
Monosomy X	Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ...	ORPHA:99226
Turner Syndrome	Micrognathia, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, ...	ORPHA:881
Distal Deletion 9P	Hypoplastic labia majora, Hypospadias, Brachydactyly	ORPHA:1642
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis...	OMIM:614701
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, Adducted thumb	ORPHA:89844
Werner Syndrome	Rocker bottom foot, Small hand, Decreased fertility, Secondary amenorrhea, Ovarian neoplasm, Hypo...	ORPHA:902
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad thumb, Broad distal phalanx of finger, Brachydactyly	OMIM:617763
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Hypospadias, Postaxial polydacty...	ORPHA:397715
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Isolated Atp Synthase Deficiency	Hepatomegaly, Cataract, Optic atrophy, Hyperammonemia, Hypogonadism, Hyperalaninemia, Rod-cone dy...	ORPHA:254913
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ...	OMIM:271510
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Rocker bottom foot, Craniosynostosis, Coxa valga, Cryptorchidism, Postaxial hand pol...	OMIM:301056
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, External genital hypoplasia, Tapered finger, Cryptorchidism, Short fin...	ORPHA:1867
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co...	ORPHA:899
Refractory Celiac Disease	Elevated hepatic transaminase, Osteoporosis, Hypophosphatemia, Hypoalbuminemia, Hypocalcemia, Hyp...	ORPHA:398063
Triple A Syndrome	Optic atrophy, Palmoplantar keratoderma, Adrenal insufficiency, Abnormality of the hypothenar emi...	ORPHA:869
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h...	OMIM:180700
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly	OMIM:614800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor...	OMIM:263520
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Kleefstra Syndrome 1	Hypospadias, Single transverse palmar crease, Cryptorchidism, Talipes equinovarus, Micropenis, Br...	OMIM:610253
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s...	ORPHA:96182
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Cryptorchidism, Optic atrophy, Dysphagia, Self-injurious behavior, Astigmatism, Chor...	ORPHA:494344
Ruijs-Aalfs Syndrome	Cataract, Single transverse palmar crease, Posterior subcapsular cataract, Elbow flexion contract...	OMIM:616200
Distal Deletion 17Q	Hepatomegaly, Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand,...	ORPHA:1597
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Trisomy 9P	Clinodactyly of the 5th finger, Abnormal pupil morphology, Brachydactyly, Bilateral single transv...	ORPHA:236
Dent Disease 1	Thin bony cortex, Osteomalacia, Bowing of the legs, Enlargement of the wrists, Delayed epiphyseal...	OMIM:300009
Wagro Syndrome	Cataract, Corneal opacity, Aggressive behavior, Agitation, Low frustration tolerance, Compulsive ...	OMIM:612469
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Camptodactyly, Clinodactyly, Bilateral single transv...	OMIM:618804
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Micrognathia, 2-3 ...	OMIM:617061
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Absent nipple, 3-4 finger cutaneous syndactyly, Primary amenorrhea, B...	ORPHA:69085
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, Pes valgus, Brachydactyly	OMIM:619995
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated circulating parath...	OMIM:612089
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna...	OMIM:619879
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Cinca Syndrome	Joint dislocation, Abnormal joint morphology, Delayed closure of the anterior fontanelle, Brachyd...	ORPHA:1451
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Hypospadias, Micrognathia, Missing ribs, Hand polydactyly...	ORPHA:7
Distal Monosomy 7Q36	Hypoplasia of penis, Cryptorchidism, Optic atrophy, Symphalangism affecting the phalanges of the ...	ORPHA:1636
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Werner Syndrome	Cataract, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:277700
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Retinal detachment, Toe syndactyly, Leukocoria, Reduced bone mineral density, ...	ORPHA:1556
Warburg Micro Syndrome 3	Small scrotum, Cataract, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco...	OMIM:614222
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Cataract, Aplasia/Hypoplasia of the patella	ORPHA:1069
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Cataract, Secondar...	OMIM:157640
Lissencephaly 8	Cataract, Optic atrophy, Talipes equinovarus, Elevated circulating creatine kinase concentration	OMIM:617255
Stt3B-Cdg	Cryptorchidism, Micropenis, Small scrotum, Optic atrophy	ORPHA:370924
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Hyperkalemia, Elevated circulating creatinine concentration, Hyper...	ORPHA:340
Ellis Van Creveld Syndrome	Hypospadias, Micromelia, Capitate-hamate fusion, Cryptorchidism, Epispadias, Genu valgum, Abnorma...	ORPHA:289
Smith-Magenis Syndrome	Pes planus, Toe syndactyly, Micrognathia, Precocious puberty, Hand polydactyly, Clinodactyly of t...	ORPHA:819
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Adrenal hypoplasia, Ulnar deviation of the hand or of fingers of...	OMIM:214100
Acrocallosal Syndrome	Microretrognathia, Finger syndactyly, Toe syndactyly, Hypospadias, Duplication of thumb phalanx, ...	OMIM:200990
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo...	ORPHA:99880
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Osteomalacia, Elevated circulating aspartate aminotransferase concent...	OMIM:227810
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Triangular shaped distal phalanges of the hand, Thin ribs, Sl...	ORPHA:73230
Mirage Syndrome	Hypergonadotropic hypogonadism, Rocker bottom foot, Hypospadias, Radial club hand, Cryptorchidism...	OMIM:617053
Spinal muscular atrophy, type I, with congenital bone fractures	Congenital hip dislocation, Arachnodactyly, Rocker bottom foot	OMIM:271225
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Cubitus valgus, Microretrognathia, Brachydactyly	OMIM:620237
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th...	OMIM:218600
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Hypophosphatemia, P...	ORPHA:411629
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han...	OMIM:236700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Rickets, Hypophosph...	OMIM:616026
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly	OMIM:618027
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Micropenis, Small scrotum, Optic atrophy	OMIM:615597
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Decreased serum insulin-like growth factor 1, Elevated circulating creatine ki...	ORPHA:314389
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Developm...	OMIM:615663
Srd5A3-Cdg	Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm...	ORPHA:324737
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Small hand, Leukocoria, Sh...	ORPHA:2714
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Osteo...	ORPHA:143
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Abnormal hip bone morphology, Synostosi...	ORPHA:1323
Trisomy 20P	Finger syndactyly, Hypospadias, Camptodactyly of finger, Talipes, Micrognathia, Preaxial hand pol...	ORPHA:261318
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Infantile Refsum Disease	Hepatomegaly, Cataract, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentra...	ORPHA:772
Macs Syndrome	Pes planus, Hypergonadotropic hypogonadism, Single transverse palmar crease, Micrognathia, Crypto...	OMIM:613075
Distal Deletion 13Q	Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Optic atrophy, Primary adrenal insuffic...	ORPHA:1590
Kapur-Toriello Syndrome	Cataract, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Cryptorchidism, ...	OMIM:244300
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Trisomy 13	Cataract, Abnormal retinal vascular morphology, Cryptorchidism, Postaxial hand polydactyly, Optic...	ORPHA:3378
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small scrotum, External genital hypoplasia, ...	ORPHA:97360
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Pes planus, Hypergonadotropic hypogonadism, Rocker bottom foot, Camptodactyly of f...	OMIM:602782
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Wrist swelling, Retinal pigment epithelial mottling, Chor...	ORPHA:448237
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Brachydactyly	ORPHA:1133
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Hand muscle weakness, Decreased nerve conduction velocity, Abnormal pupil mo...	ORPHA:90658
Autosomal Dominant Optic Atrophy, Classic Form	Scapular winging, Cataract, Diabetes mellitus, Morning glory anomaly, Optic atrophy, Hypogonadism...	ORPHA:98673
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Short long bone, Small pituitary gland...	OMIM:619479
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e...	ORPHA:261323
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Peroxisome Biogenesis Disorder 5A (Zellweger)	Single transverse palmar crease, Conjugated hyperbilirubinemia, Intrahepatic biliary dysgenesis, ...	OMIM:614866
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Symphalangism affecting the phalanges of the hand,...	ORPHA:1292
Microphthalmia, Lenz Type	Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, Cryptorchidism, Optic disc col...	ORPHA:568
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Oncogenic Osteomalacia	Abnormality of the tarsal bones, Fibrous dysplasia of the bones, Neurofibroma, Abnormal femur mor...	ORPHA:352540
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Calcaneovalgus deformity, Webbed penis, Micropenis, Long hallux, Long toe, Syndact...	ORPHA:261537
Hereditary Fructose Intolerance	Hepatomegaly, Cataract, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Chronic hepat...	ORPHA:469
Carey-Fineman-Ziter Syndrome	Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadias, Ulnar deviation of f...	ORPHA:1358
Tarsal Coalition	Tarsal synostosis	OMIM:186850
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa valga, Avas...	OMIM:150230
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Mi...	ORPHA:3301
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Increased bone mineral density, Optic disc pallor, Facial palsy, Splenomegaly, Opti...	OMIM:611490
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Coxa vara, Clitoral hypoplasia, Short ...	ORPHA:3107
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Hyperkalemi...	OMIM:620366
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Anisoc...	OMIM:618653
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Partial Androgen Insensitivity Syndrome	Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ...	ORPHA:90797
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Radio-Tartaglia Syndrome	Pes planus, Micrognathia, Tapered finger, Precocious puberty, Pes cavus, Brachydactyly	OMIM:619312
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe syndactyly, Mic...	OMIM:614099
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla...	OMIM:311900
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cutaneous s...	OMIM:257850
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Mi...	ORPHA:2886
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ...	OMIM:178110
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Pes planus, Bifid...	ORPHA:2152
Monosomy 18P	Micrognathia, Brachydactyly	ORPHA:1598
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ...	ORPHA:99646
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Decreased fertility, Clinodactyly of the ...	ORPHA:870
Intellectual Disability-Strabismus Syndrome	Hypospadias, Rocker bottom foot, Decreased response to growth hormone stimulation test, Micrognat...	ORPHA:363528
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Hypophosphatemia	OMIM:612287
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Ab...	ORPHA:85408
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Anterior pituitary hypoplasia, ...	OMIM:151050
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Phimosis, Abnormal rib morphology, Palmoplantar kerat...	ORPHA:2908
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Achilles te...	OMIM:301041
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Micrognathia, Rocker bottom foot, Camptodactyly	OMIM:604273
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, R...	OMIM:609033
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Femur fracture, Facial palsy, Craniosynostosis, Spl...	OMIM:259700
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short toe, Delayed ossification of carpal bones, Short distal phalanx of finger, Tapered finger	OMIM:239300
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia, Genu valgum	OMIM:618913
Frontorhiny	Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinodactyly, Hypopituitarism, Brach...	ORPHA:391474
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria, Short lower limbs, Bowing of the legs	OMIM:219250
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Shawl scrotum, Clinodactyly ...	ORPHA:1974
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Premature ovarian insufficienc...	OMIM:240300
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism,...	OMIM:610125
Trichinellosis	Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Irritability, Abn...	ORPHA:863
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Developmental And Epileptic Encephalopathy 29	Hip dislocation, Rocker bottom foot	OMIM:616339
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Hypophosphatemia	OMIM:612286
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Cataract, Corneal opacity, Hepatosplenomegaly, Depression	ORPHA:309288
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Patent ductus arteriosus, Talipes equinovarus, Camptodactyly, Clinodactyly, Brachydactyly	ORPHA:397709
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Single transverse palmar crease, Tibial bowing, H...	OMIM:269150
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Diabetes mellitus, Cryptorchidism, Optic atrophy, Retinal degeneration	OMIM:249270
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Small scrotum, Cryptorchidism, Fundus atrophy, Optic atrophy, Short distal phalanx of finger	ORPHA:1970
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Osteopetrosis	OMIM:615085
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi...	OMIM:180500
Fanconi Renotubular Syndrome 2	Osteopenia, Osteomalacia, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemia	OMIM:613388
Woods Syndrome	Single transverse palmar crease, Supernumerary nipple, Optic atrophy, 3-4 finger cutaneous syndac...	OMIM:615236
Alg8-Cdg	Brachydactyly, Talipes equinovarus, Camptodactyly	ORPHA:79325
Prader-Willi Syndrome Due To Translocation	Pes planus, Overlapping toe, Hypogonadotropic hypogonadism, Decreased response to growth hormone ...	ORPHA:177907
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Reduced s...	OMIM:615434
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Transketolase Deficiency	Hepatomegaly, Cataract, Uveitis, Secondary amenorrhea, Self-injurious behavior, Conjunctivitis, C...	ORPHA:488618
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Cranial hyperostosis, Osteoporosis...	ORPHA:2801
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Abnormal repetitive mannerisms, Iris coloboma, Accessory spleen,...	OMIM:194190
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Weill-Marchesani Syndrome 1	Broad palm, Broad phalanges of the hand, Broad ribs, Broad metacarpals, Broad metatarsal, Brachyd...	OMIM:277600
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Abnormality of the adrenal glands, Dysphagia, Aggressive behavior	ORPHA:289483
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Aplastic clavicle, Micro...	ORPHA:2636
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypospadias, Supernumerary nipple, Tapered finger, Short thumb, Cryptorchidism, Chordee, Clinodac...	ORPHA:477993
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Calcaneovalgus deformity, Webbed penis, Micropenis, Long hallux, Long toe, Syndact...	ORPHA:261552
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Arachnodactyly, Hyp...	OMIM:201750
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Pes cavus, Carpal bone hypoplasia	OMIM:601162
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Tapered finger	OMIM:619680
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ...	ORPHA:90796
Combined Oxidative Phosphorylation Deficiency 55	Single transverse palmar crease, Elevated circulating creatine kinase concentration, Hypophosphat...	OMIM:619743
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l...	ORPHA:2510
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Pes planus, Micrognathia, Rocker bottom foot, Tapered finger	OMIM:620070
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Abnormality of the male genitalia, Male...	ORPHA:847
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma...	ORPHA:2334
Knobloch Syndrome 1	Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat...	OMIM:267750
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Arachnodactyly, Lens subluxati...	ORPHA:171844
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Short palm, Brachydactyly	ORPHA:3339
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Myhre Syndrome	Vertebral fusion, Overlapping toe, Cryptorchidism, Short toe, 2-3 toe syndactyly, Cone-shaped epi...	OMIM:139210
You-Hoover-Fong Syndrome	Clinodactyly, Brachydactyly	OMIM:616954
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Adducted thumb	OMIM:618622
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly	OMIM:616028
Meckel Syndrome	Accessory spleen, Bowing of the long bones, True hermaphroditism, Pancreatic fibrosis, Abnormal c...	ORPHA:564
Fanconi Renotubular Syndrome 1	Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia	OMIM:134600
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Knee ...	OMIM:614976
Jacobsen Syndrome	Hypospadias, Micrognathia, Missing ribs, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, ...	OMIM:147791
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Multiple Sulfatase Deficiency	Hepatomegaly, Broad hallux phalanx, Abnormality of retinal pigmentation, Corneal opacity, Catarac...	ORPHA:585
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroid...	OMIM:619487
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Dent Disease	Thin bony cortex, Cataract, Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine k...	ORPHA:1652
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Filippi Syndrome	Finger syndactyly, Supernumerary nipple, Cryptorchidism, Optic atrophy, Clinodactyly of the 5th f...	ORPHA:3255
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Fryns Syndrome	Microretrognathia, Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Single transverse palma...	OMIM:229850
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Absent gallbladder, Hypospadias, R...	ORPHA:163979
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:620107
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Brachydactyly	OMIM:620156
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, S...	OMIM:268300
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Cirrhosis	OMIM:613987
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa...	ORPHA:66634
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Micrognathia, Pancreatic cysts, Preaxial hand polydactyly, ...	ORPHA:2750
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Finger sy...	ORPHA:818
Chromosome 17Q12 Deletion Syndrome	Long toe, Micrognathia, Long fingers, Cryptorchidism, Upper limb undergrowth, Short foot, Ovarian...	OMIM:614527
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Bowing of the long bones, Craniosynostosis, Splenomegaly, Reduced bone mineral dens...	ORPHA:667
Chromosome 18Q Deletion Syndrome	Pes planus, Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placement of thumb, Dec...	OMIM:601808
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating...	ORPHA:90793
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Female pseudohermaphroditism, Cryptorchidism, Short toe, Shawl scrotum, Clinod...	ORPHA:1519
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys...	OMIM:610442
Angelman Syndrome	Keratoconus, Optic disc pallor, Hyperactivity, Precocious puberty in females, Aggressive behavior...	ORPHA:72
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Cryptorchidis...	ORPHA:404448
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomega...	ORPHA:93400
Miller Fisher Syndrome	Anisocoria, Facial palsy, Dysphagia, Mydriasis	ORPHA:98919
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Osteoporosis, Abnormal circulating cholesterol concentration, Pseudo...	OMIM:213700
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Hip dysplasia, Aplasia of the vagin...	ORPHA:457284
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal circulating phytanic acid concentration, Type II diabetes mellitus, Motor axonal neuropa...	ORPHA:247815
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Pancreatic cysts, Short 2nd toe, Ovarian cyst, Polydactyly, Radial...	OMIM:311200
Chops Syndrome	Cryptorchidism, Cervical C2/C3 vertebral fusion, Brachydactyly	OMIM:616368
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit...	ORPHA:314478
Elsahy-Waters Syndrome	Bifid scrotum, Hypospadias, Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cut...	OMIM:211380
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Kabuki Syndrome 2	Micrognathia, Hip dislocation, Short 5th finger, Prominent fingertip pads, Brachydactyly	OMIM:300867
Mucolipidosis Ii Alpha/Beta	Hypoplastic scapulae, Craniosynostosis, Coxa valga, Micrognathia, Hypoplasia of the odontoid proc...	OMIM:252500
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Toriello-Carey Syndrome	Micrognathia, Cryptorchidism, Wide anterior fontanel, Clinodactyly, Brachydactyly	ORPHA:3338
Barber-Say Syndrome	Absent nipple, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora, ...	OMIM:209885
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Rocker bottom foot, Short 2nd toe, Hip dysplasia, Clinodactyly of the 5th finger	OMIM:612582
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Dysphagia, Cherry red...	ORPHA:93399
Serotonin Syndrome	Restlessness, Irritability, Agitation, Abnormality of the autonomic nervous system, Hepatic failu...	ORPHA:43116
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Rocker bottom foot, Micrognathia, Hip dislocation, Elbow flexion contracture, H...	OMIM:618947
Chromosome 16P13.3 Duplication Syndrome	Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Micrognathia, Short ...	OMIM:613458
Osteopetrosis, Autosomal Recessive 2	Cranial nerve compression, Cranial hyperostosis, Optic atrophy, Diaphyseal sclerosis, Genu valgum...	OMIM:259710
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat...	OMIM:612674
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Cryptorchidism, Hypergonadotropic hypogonadism, Talipes equinovarus	ORPHA:250999
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia	OMIM:616038
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe...	DECIPHER:81
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Hypospadias, Craniosynostosis, Tapered finger, Micrognathia, Cryptorchidism, Sma...	OMIM:309590
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Aymé-Gripp Syndrome	Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Cryptorchidism, Ra...	ORPHA:1272
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Cataract, Crypt...	ORPHA:90321
Infant Botulism	Hyponatremia, Anorexia, Keratoconjunctivitis sicca, Dysphagia, Mydriasis	ORPHA:178478
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Prea...	OMIM:603671
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thin bony cortex, Optic neuropathy, Optic atrophy, Diaphyseal dysplasia, S...	OMIM:619727
Noonan Syndrome	Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Radioulnar synostosis, Clinodactyly ...	ORPHA:648
Monosomy 9P	Hypospadias, Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Cryptorc...	ORPHA:261112
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical...	OMIM:157800
Cohen Syndrome	Finger syndactyly, Chorioretinal dystrophy, Abnormality of retinal pigmentation, Arachnodactyly, ...	ORPHA:193
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El...	OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m...	OMIM:613150
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Dysphagia	OMIM:300858
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm...	OMIM:607932
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ...	ORPHA:279914
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rickets, Rod...	OMIM:268315
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal external genitali...	ORPHA:90794
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Coxa valga, Micrognathia, Flared metaphysis, Hip...	OMIM:309350
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met...	OMIM:272950
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Bifid uterus, Cryptorchidism...	OMIM:258040
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Anisocoria, M...	OMIM:613406
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cataract, Cryptorchidism, Depression, Short foot, Hand poly...	ORPHA:250989
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Optic atrophy, Hand ...	OMIM:606056
Wildervanck Syndrome	Lens subluxation, Pseudopapilledema, Facial palsy	ORPHA:3456
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
White-Sutton Syndrome	Micrognathia, Hypoplastic cervical vertebrae, Broad foot, Wormian bones, Broad thumb, Brachydactyly	OMIM:616364
Camurati-Engelmann Disease	Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort...	ORPHA:1328
Craniosynostosis And Dental Anomalies	Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty...	OMIM:614188
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Pes cavus, Proportionate shortening of all digits, Tapered finger, Small hand,...	ORPHA:280633
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Spondyloocular Syndrome	Long toe, Osteopenia, Retinal detachment, Cataract, Overlapping toe, Arachnodactyly, Femur fractu...	OMIM:605822
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Elevated circulating creatine kinase concentration, Retinal arteriolar tortuosit...	OMIM:175780
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phal...	ORPHA:364577
Intellectual Developmental Disorder, Autosomal Dominant 57	Pes planus, Craniosynostosis, Contracture of the proximal interphalangeal joint of the 4th finger...	OMIM:618050
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Cataract, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Developmental c...	OMIM:181270
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal ...	ORPHA:909
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Micro...	ORPHA:955
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Supernumerary nipple, Prominent crus of helix, Cryptorchidism, Elbow flexion con...	OMIM:619194
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Edema of the dorsum of feet, Single transverse palmar cr...	ORPHA:521426
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Optic atrophy, Low pla...	OMIM:261680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Peters an...	OMIM:236670
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Hypospadias, Tarsal synostosis, Aplastic clavicle, Micrognathia, Wide anterior fontanel, Coronal ...	ORPHA:85199
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Long foot, Broad 2nd toe, Palmoplantar hyperkeratosis, Hydrocele testis, Large hands, Bilateral t...	OMIM:280000
Iatrogenic Botulism	Orthostatic hypotension, Dysphagia, Mydriasis	ORPHA:254509
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus	ORPHA:99927
1P36 Deletion Syndrome	11 pairs of ribs, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Lower limb asymmetry...	ORPHA:1606
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Retinal detachment, Abnormality of retinal pigmentat...	ORPHA:394
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Retinal infarction, Mydriasis	OMIM:613834
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Triphalangeal thumb, Chorioretinal coloboma, Iris coloboma, H...	ORPHA:959
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Craniosynostosis, Palmoplantar cutis gyrata, Abnormality of the pancreas, Cryptorc...	ORPHA:1555
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Small s...	OMIM:601803
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t...	ORPHA:273
Amish Lethal Microcephaly	Hepatomegaly, Optic atrophy, Osteoporosis, Irritability, Decreased skull ossification	ORPHA:99742
Congenital Tufting Enteropathy	Cataract, Corneal erosion, Optic disc coloboma, Irritability, Cholestatic liver disease, Punctate...	ORPHA:92050
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Pineob...	ORPHA:790
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg...	OMIM:208150
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ...	OMIM:158330
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Micrognathia, Absent radius, Absent thumb, Bilateral talipes equinovarus, Apl...	OMIM:614083
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Optic atrophy, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Ro...	OMIM:601539
Raine Syndrome	Bowing of the long bones, Increased bone mineral density, Micromelia, Subperiosteal bone formatio...	OMIM:259775
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b...	ORPHA:100924
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Anterior polar cataract, Lenticonus, Hypophosphatemia	OMIM:104200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:613154
Arachnoid Cyst	Facial palsy, Abnormality of the endocrine system, Cranial nerve compression, Depression, Irritab...	ORPHA:2356
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Goiter, Palmoplant...	ORPHA:201
Noonan Syndrome 1	Male infertility, Hypospadias, Micrognathia, Cryptorchidism, Synovitis, Hypogonadism, Radial devi...	OMIM:163950
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Sclerosteosis 1	Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, 2-3 finger syndactyly, Optic atrophy, ...	OMIM:269500
Intestinal Botulism	Dysphagia, Mydriasis	ORPHA:178481
Atypical Werner Syndrome	Pes planus, Premature ovarian insufficiency, Rocker bottom foot, Micrognathia, Decreased fertilit...	ORPHA:79474
Toxin-Mediated Infectious Botulism	Dysphagia, Mydriasis	ORPHA:230800
Maternal Phenylketonuria	Clinodactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb	ORPHA:2209
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Meester-Loeys Syndrome	Joint dislocation, Pes planus, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Bra...	OMIM:300989
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia	OMIM:266810
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension, Adrenal insufficiency, Dysphagia	OMIM:615510
Adams-Oliver Syndrome 1	Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Imperforate hymen, Brachydactyly	OMIM:100300
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Polydactyly, ...	OMIM:613610
Down Syndrome	Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Short palm, Shor...	OMIM:190685
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Optic disc pallor, Arachnodactyly, Hypospadias, Coxa valga, Elbow dislocation, Crypto...	OMIM:620083
Arboleda-Tham Syndrome	Microretrognathia, Pes planus, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, ...	OMIM:616268
Microphthalmia, Syndromic 2	Retinal detachment, Broad hallux, Sandal gap, Remnants of the hyaloid vascular system, Hypospadia...	OMIM:300166
Joubert Syndrome 1	Optic disc pallor, Hyperactivity, Retinal dystrophy, Aggressive behavior, Postaxial hand polydact...	OMIM:213300
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Hypokalemia, Hypocal...	OMIM:617913
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Micrognathia, Long fi...	OMIM:617527
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ...	ORPHA:3474
Xeroderma Pigmentosum, Complementation Group B	Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Hypogonadism	OMIM:610651
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Hallux valgus, Thumb contracture, Bifid scrotum, Small scrotum, Retinal dystrophy, Duplication of...	ORPHA:324540
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Reduced bone mineral density, Axonal loss, Hypotriglyceridemia,...	ORPHA:404454
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Hypospadias, Micromelia, Micrognathia, Cryptorchidism, Short toe, Sho...	ORPHA:709
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Elbow flexion contracture...	OMIM:619777
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Decreased testicular size, Pes planus, Small scrotum, Hypospadias, Tapered finger, Micrognathia, ...	OMIM:309580
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri...	OMIM:614077
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Absent external genitalia, Rib fusion, Thin ribs...	OMIM:271520
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, Bile duct prolifer...	OMIM:618329
Loeys-Dietz Syndrome	Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Microgn...	ORPHA:60030
Facial Spasm	Anisocoria	OMIM:134300
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Talipes, Cryptorchidism, Abnormal tibia morphology,...	ORPHA:138
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short palm, Hypospadias, Cryptorchidism, Short greater sciatic notc...	OMIM:312870
Mgat2-Cdg	Hypoplastic nipples, Brachydactyly	ORPHA:79329
Arterial Tortuosity Syndrome	Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femo...	ORPHA:3342
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Hypospadias, Single transverse palmar crease, Craniosynostosis, Agg...	ORPHA:96121
Poems Syndrome	Sclerosis of hand bone, Papilledema, Diabetes mellitus, Sclerosis of foot bone, Metaphyseal scler...	ORPHA:2905
Crouzon Syndrome	Sagittal craniosynostosis, Keratitis, Optic atrophy, Conjunctivitis, Lambdoidal craniosynostosis,...	OMIM:123500
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar crease, Microme...	ORPHA:508488
Mend Syndrome	Hyperactivity, Cataract, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Aggr...	ORPHA:401973
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Pes planus, Single transverse palmar crease, Pes valgus, Short palm, Prominent fingertip pads, Br...	ORPHA:466950
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma	OMIM:180200
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Optic atrophy, He...	ORPHA:79330
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Single transverse palmar crease, Elevated circulating th...	OMIM:620185
Wound Botulism	Dysphagia, Mydriasis	ORPHA:178475
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad hallux, Overlapping toe, Abnormality of the hand, Facial palsy, Optic nerve hypoplasia, Pre...	ORPHA:508498
Wolfram Syndrome 2	Diabetes mellitus, Optic neuropathy, Optic atrophy, Primary amenorrhea, Depression, Oligomenorrhea	OMIM:604928
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Brac...	OMIM:617062
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Cataract, Bilobate gallbladder, Intrahepatic chole...	OMIM:607330
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Microcornea, Clinodacty...	OMIM:122470
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuri...	OMIM:229600
Hydrolethalus Syndrome 1	Hypospadias, Micrognathia, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, D...	OMIM:236680
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Abnormal external genitalia, Camptodactyly of finger, Delayed closure of the an...	OMIM:607872
Cockayne Syndrome A	Hepatomegaly, Retinal atrophy, Cataract, Abnormal peripheral myelination, Abnormal auditory evoke...	OMIM:216400
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Mydriasis, Anisocoria, Abnormality of th...	ORPHA:79138
Lesch-Nyhan Syndrome	Self-injurious behavior, Testicular atrophy, Hyperuricemia, Dysphagia	OMIM:300322
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Optic atrophy, O...	OMIM:612301
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Hypospadias, Corneal opacity, Tapered finger, Cryptorchidi...	ORPHA:464311
Alkaptonuria	Joint dislocation, Cartilage destruction, Osteoarthritis, Arthritis, Joint swelling, Calcificatio...	ORPHA:56
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Wolf-Hirschhorn Syndrome	Arachnodactyly, Hypospadias, Short hallux, Sclerocornea, Short thumb, Preaxial hand polydactyly, ...	ORPHA:280
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Hyperactivity, Toe syndactyly, Arachnodactyly, Anterior pituita...	ORPHA:464306
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
Cockayne Syndrome B	Hepatomegaly, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased ner...	OMIM:133540
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Cholecystitis, Emoti...	OMIM:250100
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Polydactyly, Posterior polar cataract, Rod-cone dystrophy	OMIM:616562
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Ayme-Gripp Syndrome	Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closure, Brachydactyly	OMIM:601088
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Coffin-Siris Syndrome 1	Sandal gap, Single transverse palmar crease, Hypospadias, Aplasia/Hypoplasia of the patella, Apla...	OMIM:135900
Botulism	Dysphagia, Mydriasis	ORPHA:1267
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Single transverse palmar crease, Sclerocornea, Ovotestis, Hypoplasia of th...	OMIM:309801
Mowat-Wilson Syndrome	Bifid scrotum, Cataract, Hypospadias, Aganglionic megacolon, Supernumerary nipple, Cryptorchidism...	OMIM:235730
Revesz Syndrome	Exudative retinopathy, Megalocornea, Leukocoria	OMIM:268130
Foodborne Botulism	Dysphagia, Mydriasis	ORPHA:228371
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Pes planus, Single transverse palmar crease, Pes valgus, Short palm, Brachydactyly	ORPHA:466943
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Osteopenia, Small scrotum, Diabetes mellitus, External genital hyp...	OMIM:614231
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Arachnodactyly, Aggressive behavior, Emotional blunt...	ORPHA:86309
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Abnormal autonomic nervous...	ORPHA:2131
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Aplasia/Hypopla...	ORPHA:306542
Holoprosencephaly	Hypoplasia of penis, Talipes, Cryptorchidism, Hand polydactyly, Anterior hypopituitarism, Panhypo...	ORPHA:2162
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Keratitis, Axonal degeneration, Optic atrophy, Gonadal hypoplasia, Conj...	OMIM:278800
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Alagille Syndrome 1	Microcornea, Papillary thyroid carcinoma, Abnormal anterior chamber morphology, Hypoplasia of the...	OMIM:118450
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Optic atrophy, Genu valgum, Hypoplasia of the ovary, A...	OMIM:619321
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Clitoral hypertrophy, Hypospadias, Aplasia/Hypoplasia of the ste...	OMIM:219000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Pes planus, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single tran...	OMIM:612474
Craniolenticulosutural Dysplasia	Osteopenia, Cryptorchidism, Punctate cataract, Optic atrophy, Posterior Y-sutural cataract	OMIM:607812
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X...	ORPHA:168558
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Retinal dystrophy, Single transverse palmar crease, Decreased nerve conduction velo...	OMIM:614863
Cockayne Syndrome	Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atrophy...	ORPHA:191
Superficial Siderosis	Anisocoria, Abnormality of the brachial nerve plexus, Abnormality of the vestibulocochlear nerve	ORPHA:247245
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X...	ORPHA:289548
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Cataract, Rem...	OMIM:619539
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Keratitis, Cryptorchidism, Opti...	ORPHA:910
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Anterior pi...	OMIM:206900
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Hypospadias, Cryptorchidism, Osteoporosis, Slender toe, Abnormality of ...	ORPHA:3063
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Pancreatitis, Hypocalcemic ...	ORPHA:405
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Supernumerary nipple, Retinal vascular pro...	OMIM:308300
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Loeys-Dietz Syndrome 2	Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynosto...	OMIM:610168
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Congenital hypoth...	OMIM:606519
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Wolfram Syndrome	Diabetes mellitus, Abnormal mesentery morphology, Optic atrophy, Hypogonadism, Abnormal autonomic...	ORPHA:3463
Pgm3-Cdg	Decreased/absent ankle reflexes, Brachydactyly	ORPHA:443811
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Cataract, Broad hallux, Hypospadias, Impulsivity, Aggressive behavior, Avascular n...	ORPHA:353281
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterior cortical cataract,...	ORPHA:67036
Primary Fanconi Renotubular Syndrome	Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating ...	ORPHA:3337
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ...	OMIM:130050
Dyskeratosis Congenita, X-Linked	Cataract, Hypospadias, Phimosis, Cryptorchidism, Optic atrophy, Osteoporosis, Conjunctivitis, Cir...	OMIM:305000
Mucopolysaccharidosis Type 2	Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Hyperactivity, I...	ORPHA:580
Inhalational Botulism	Mydriasis	ORPHA:254504
Scorpion Envenomation	Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circula...	ORPHA:466677
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uter...	OMIM:618280
Vascular Ehlers-Danlos Syndrome	Keratoconus, Hypospadias, Cryptorchidism, Abnormal pupil morphology, Cystocele, Osteolysis, Hypok...	ORPHA:286
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Nongranulomatous uveitis, Choroidal neovascular...	ORPHA:91500
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Menkes Disease	Bowing of the long bones, Tarsal synostosis, Micrognathia, Wormian bones, Abnormal metaphysis mor...	ORPHA:565
Restrictive Dermopathy 1	Hypospadias, Rocker bottom foot, Micrognathia, Wide anterior fontanel, Overtubulated long bones, ...	OMIM:275210
Pagod Syndrome	Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genital...	ORPHA:991
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior	ORPHA:309246
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Corneal opacity, Splenomegaly, Abnormality of the spleen, Hepatosplen...	ORPHA:2072
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, Broad hallux, Hy...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, Broad hallux, Hy...	ORPHA:353277
Craniorachischisis	Bifid sternum, Sirenomelia	ORPHA:63260
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Re...	OMIM:259900
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi...	OMIM:616959
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Cataract, Micromelia, Urethrovaginal fistula, Preaxial hand polydactyly, Con...	ORPHA:93271
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Leptospirosis	Hepatomegaly, Papilledema, Macular cotton wool spot, Anorexia, Jaundice, Hepatitis, Retinal hemor...	ORPHA:509
Townes-Brocks Syndrome 2	Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus	OMIM:617466
Cocaine Intoxication	Mania, Agitation, Elevated circulating creatine kinase concentration, Mydriasis	ORPHA:90068
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Cryptorchidism, Abnormal joint morphology, Epispadias, Cystocele, Pe...	ORPHA:322
Iniencephaly	Rhizomelia, Rocker bottom foot, Absent vertebra, Talipes equinovarus, Mandibular aplasia	ORPHA:63259
Okamoto Syndrome	Prominent metopic ridge, Talipes, Bifid uterus, Hip dysplasia, Polydactyly	ORPHA:2729
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go...	ORPHA:293987
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Plague	Hepatomegaly, Anorexia, Splenomegaly, Abnormality of the elbow, Depression, Conjunctival hyperemi...	ORPHA:707
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Calcification of the auricular cartilage, Stippled calcification of the ...	ORPHA:51608
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Mydriasis	OMIM:619351
Ramon Syndrome	Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Enlarged labia minora	OMIM:266270
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter...	ORPHA:2237
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Diabetes ins...	OMIM:157170
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Encephalocraniocutaneous Lipomatosis	Abnormal cartilage morphology, Retinopathy, Osteochondrosis	ORPHA:2396
Viss Syndrome	Long toe, Microretrognathia, Recurrent joint dislocation, Pes planus, Arachnodactyly, Rocker bott...	OMIM:619472

Histopathology

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

Phenotype	Allele	Zygosity	Sex	Life Stage
Spleen - MPATH pathological process term hyperplasia	Bmpr1b^em1(IMPC)Mbp	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bmpr1b.

No publications found that use IMPC mice or data for Bmpr1b.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Bmpr1b^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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