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Gene: Porcn MGI:1890212

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

porcupine O-acyltransferase

Synonyms:

DXHXS7465e, 2410004O13Rik, mMg61, porc, Mporc

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Porcn 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 Porcn (2 diseases)
Human diseases predicted to be associated with Porcn (1956 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Focal Dermal Hypoplasia		Abnormal palmar dermatoglyphics, Abnormality of the nail, Finger syndactyly, Alopecia, Multicysti...	ORPHA:2092
Focal Dermal Hypoplasia		Ridged nail, Ureteral duplication, Brittle hair, Congenital hip dislocation, Osteopathia striata,...	OMIM:305600

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

Disease	Matching phenotypes	Source
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Acrorenal Syndrome	Abnormal renal morphology, Hand oligodactyly	OMIM:102520
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Brachydactyly, Type A4	Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact...	OMIM:112800
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia	OMIM:241000
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Renal agenesis, Camptodactyly of finger, Broad thumb, Short distal phalanx ...	ORPHA:1471
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Gombo Syndrome	Clinodactyly, Delayed puberty, Radial deviation of finger, Brachydactyly	OMIM:233270
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Brachydactyly, Type A2, With Microcephaly	Diabetes mellitus, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypop...	OMIM:211369
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Absent distal phalanges,...	OMIM:120400
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Inguinal her...	ORPHA:325345
Bardet-Biedl Syndrome 5	Syndactyly, External genital hypoplasia, Polydactyly, Hypogonadism, Micropenis, Brachydactyly	OMIM:615983
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Bardet-Biedl Syndrome 4	Syndactyly, External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, P...	OMIM:615982
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia	OMIM:613703
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Single transverse palmar crease, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Microphthalmia, Isolated, With Coloboma 4	Coloboma, Orbital cyst	OMIM:251505
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Premature pubarche, Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral...	OMIM:612847
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B...	OMIM:609052
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of the vertebral bodies, Abnormal m...	ORPHA:3104
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Brachydactyly	OMIM:615995
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue...	OMIM:194080
Camptobrachydactyly	Syndactyly, Urinary incontinence, Septate vagina, Short toe, Hand polydactyly, Congenital finger ...	OMIM:114150
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn...	ORPHA:750
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept...	ORPHA:1319
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia...	ORPHA:1436
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Polydactyly, Attenuation of retinal ...	OMIM:615990
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Image Syndrome	Metaphyseal dysplasia, Hypospadias, Adrenal hypoplasia, Micromelia, Cryptorchidism, Hypogonadism,...	ORPHA:85173
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly	OMIM:172880
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Tetrasomy X	Premature ovarian insufficiency, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th fi...	ORPHA:9
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Ring Chromosome 8 Syndrome	Deviation of finger, Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn...	ORPHA:93322
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Isochromosomy Yp	Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility	ORPHA:98797
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ...	ORPHA:3258
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Eng-Strom Syndrome	Camptodactyly of finger, Scoliosis, Brachydactyly	ORPHA:1937
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Isochromosomy Yq	Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Symphalangism, Distal	Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte...	OMIM:185700
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ...	ORPHA:2756
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Crossed Polysyndactyly	Upslanted palpebral fissure, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand p...	ORPHA:2935
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Testicular Anomalies With Or Without Congenital Heart Disease	Inguinal hernia, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hy...	OMIM:615542
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace...	ORPHA:166011
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
2q37 monosomy	Brachydactyly	DECIPHER:44
Macdermot-Winter Syndrome	Camptodactyly of finger, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, H...	OMIM:247990
Hand-Foot-Genital Syndrome	Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda...	OMIM:140000
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Alopecia totalis	ORPHA:1014
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo...	OMIM:146000
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly	ORPHA:3303
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco...	ORPHA:2370
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha...	OMIM:177170
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous...	OMIM:600384
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
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
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus	OMIM:615938
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Coloboma, Clinodactyly, Iris coloboma, Brachydactyly	OMIM:610023
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Kyphoscoliosis, Abnor...	ORPHA:65759
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidi...	OMIM:613390
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla...	OMIM:613573
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Epicanthus, Downslanted palpebral fissures	ORPHA:238446
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Fing...	ORPHA:2251
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinod...	ORPHA:3268
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Peripheral Dysostosis	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly	ORPHA:1795
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Tibial bow...	OMIM:608940
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Erythrokeratodermia Variabilis	Alopecia, Tapered finger, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis,...	ORPHA:317
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az...	ORPHA:48
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow, Split hand, 2-3 f...	OMIM:225280
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Epicanthus, Brachydactyly, Down-sloping shoulders, Abnormal ...	ORPHA:1390
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Coloboma, Occipital encephalocele, Hydrocephalus, Retinal dysplasia	ORPHA:324416
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb...	OMIM:617396
Microphthalmia, Isolated 4	Coloboma, Postaxial polydactyly	OMIM:613094
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperker...	OMIM:212360
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypoplasia, Abnormal form...	ORPHA:1788
Crandall Syndrome	Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ...	ORPHA:202
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta...	ORPHA:1927
Bullous Dystrophy, Hereditary Macular Type	Short finger, Alopecia totalis, Abnormality of the nail, Tapered finger	OMIM:302000
Meckel Syndrome, Type 9	Occipital encephalocele, Multicystic kidney dysplasia, Limb undergrowth, Talipes equinovarus, Amb...	OMIM:614209
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Idiopathic Isolated Micropenis	Ambiguous genitalia, Micropenis, Hypospadias	ORPHA:95707
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ...	ORPHA:2831
Eem Syndrome	Absent eyebrow, Finger syndactyly, Abnormality of retinal pigmentation, Ectrodactyly, Macular dys...	ORPHA:1897
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me...	OMIM:184260
Leri Pleonosteosis	Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormally straight spine...	ORPHA:2900
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Iris coloboma, Ptosis	ORPHA:1259
Jeune Syndrome	Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd...	ORPHA:474
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ...	OMIM:602418
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli...	OMIM:184250
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosi...	ORPHA:3409
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia...	OMIM:617927
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot...	OMIM:615989
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Abruzzo-Erickson Syndrome	Epicanthus, Toe syndactyly, Short toe, Ulnar deviation of finger, Coloboma, Radioulnar synostosis...	ORPHA:921
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o...	ORPHA:1858
Bardet-Biedl Syndrome 19	Renal insufficiency, External genital hypoplasia, Postaxial polydactyly, Mesoaxial hand polydacty...	OMIM:615996
Meckel Syndrome	Encephalocele, Ureteral duplication, Bowing of the long bones, True hermaphroditism, Multicystic ...	ORPHA:564
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha...	OMIM:201170
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur...	OMIM:143400
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Recurrent urinary tract infections, Short neck, Vesicoure...	OMIM:244600
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:614500
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital...	OMIM:132400
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Almond-shaped palpebral fissure, Frontal encephalocele, Abnormality of t...	ORPHA:521308
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Mesomelia	ORPHA:1277
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Small hand, Abnormal femur morphology, Abnormal epiphys...	ORPHA:969
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Thumb Deformity And Alopecia	Short thumb, Alopecia	OMIM:188150
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Hypogonadism	ORPHA:2574
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip...	ORPHA:166016
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Oliver-Mcfarlane Syndrome	Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Long eyebrows, Cryptorchidism, Long...	OMIM:275400
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, Ectrodactyly, Oligodactyly	ORPHA:3016
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Terminal Osseous Dysplasia	Syndactyly, Epicanthus, Telecanthus, Brachydactyly, Camptodactyly of finger, Abnormal hand bone o...	OMIM:300244
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly	ORPHA:444051
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydronephrosis, Short neck	ORPHA:251046
Biemond Syndrome Type 2	Coloboma, Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal...	OMIM:124480
Joubert Syndrome 16	Encephalocele, Coloboma, Retinal dystrophy, Polydactyly	OMIM:614465
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Cutaneous syndactyly, Palmopl...	ORPHA:2890
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, Micropenis, Bra...	OMIM:612626
Joubert Syndrome 15	Retinal dystrophy, Preaxial polydactyly, Exencephaly, Coloboma, Retinopathy	OMIM:614464
Acrocephalopolydactyly	Short neck, Abnormal renal morphology, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Bifid scrotum, Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Rudiger Syndrome	Single transverse palmar crease, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Microp...	OMIM:268650
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Nicolaides-Baraitser Syndrome	Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidi...	ORPHA:3051
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, U...	OMIM:616108
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c...	ORPHA:2377
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly	OMIM:615633
Ring Chromosome 14 Syndrome	Epicanthus, Almond-shaped palpebral fissure, Pigmentary retinopathy, Blepharophimosis, Downslante...	OMIM:616606
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ...	ORPHA:753
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Cortisone Reductase Deficiency 1	Alopecia, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism	OMIM:604931
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ...	ORPHA:3320
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra...	ORPHA:1278
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Kyp...	ORPHA:3098
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Short toe, Kyphosis, Hyperinsuline...	ORPHA:3085
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Keratoderma Hereditarium Mutilans	Alopecia, Autoamputation of digits, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperke...	ORPHA:494
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
8P23.1 Duplication Syndrome	Toe syndactyly, Adrenal insufficiency, Hydronephrosis	ORPHA:251076
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Bardet-Biedl Syndrome 3	Renal hypoplasia, External genital hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Absent fingernail, Cl...	OMIM:609638
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Orofaciodigital Syndrome Xv	Postaxial hand polydactyly, Broad hallux, Hydronephrosis, Duplication of phalanx of hallux	OMIM:617127
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ...	OMIM:617781
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Kyphosi...	ORPHA:3121
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Retinal dys...	OMIM:615665
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Telecanthus, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, ...	ORPHA:380
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Phenobarbital Embryopathy	Hypospadias, Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis,...	ORPHA:3109
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Split hand, Sparse body hair, Aplasi...	ORPHA:2850
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Frontonasal Dysplasia 1	Epicanthus, Brachydactyly, Postaxial hand polydactyly, Anterior basal encephalocele, Coloboma, Pe...	OMIM:136760
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Platyspondyly, Brachytelomesoph...	ORPHA:2619
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger...	OMIM:272440
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Cryptorchidism, Kyphosis, Sc...	OMIM:619797
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra...	OMIM:617405
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
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
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Hypoplasia of delto...	OMIM:173800
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Cryptorchidism, Radioulnar synostos...	OMIM:194350
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Microcephaly-Cardiomyopathy Syndrome	Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Sandal gap	ORPHA:2515
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossi...	OMIM:614613
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma	OMIM:618295
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc...	OMIM:236730
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Abnorma...	ORPHA:1426
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Genu valgum, Short ...	OMIM:614078
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, H...	ORPHA:93307
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Limited elbow extension, Short metatarsal...	OMIM:180870
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Hammertoe	OMIM:619090
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Cryptorchidism, Hypogonadism, Long eyelashes, Sparse hair, Micropenis	ORPHA:3363
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Short thumb, Lumbar hyperlordosis, Broad hallux, Brachydactyly	OMIM:165800
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Sho...	OMIM:102370
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ...	ORPHA:2928
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi...	OMIM:602875
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Limited elbow extension, Tapered finger	OMIM:300706
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Ptosis	ORPHA:2743
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, 2-3 finger syndactyly...	ORPHA:2437
Satoyoshi Syndrome	Tapered finger, Abnormal hair morphology, Abnormality of the humerus, Genu varum, Abnormal femur ...	ORPHA:3130
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
Craniosynostosis, Philadelphia Type	Long palpebral fissure, Finger syndactyly	ORPHA:1527
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Abnormality of retinal ...	ORPHA:897
Mesomelia-Synostoses Syndrome	Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp...	ORPHA:2496
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short...	OMIM:600325
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia	ORPHA:294975
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl...	ORPHA:2538
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S...	ORPHA:85167
Abruzzo-Erickson Syndrome	Coloboma, Radioulnar synostosis	OMIM:302905
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Moebius Syndrome	Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Short neck, Split hand, Micropenis, Abn...	OMIM:157900
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Aplasia/Hypoplasia of the phalanges of the hallux, Abnorma...	ORPHA:337
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo...	OMIM:190351
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Satoyoshi Syndrome	Alopecia, Short metacarpal, Brachydactyly, Short metatarsal, Osteolytic defects of the phalanges ...	OMIM:600705
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Epicanthus, Arachnodactyly, Decreased palmar creases, Limite...	OMIM:108145
Keipert Syndrome	Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac...	OMIM:301026
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Cryptorchidism, ...	OMIM:236700
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow, Abnormal form of the vert...	ORPHA:263463
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim...	ORPHA:2438
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Clino...	OMIM:201000
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Optic atrophy, Curved distal phalanges of the hand, Dia...	ORPHA:3152
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Epicanthus, Brachydactyly, Coxa valga, Upslanted palpebral f...	ORPHA:2163
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, El...	ORPHA:79445
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Hip dysplasia, Vertebral segmentation defect, Polydactyly, Scoliosis, Hydronephrosis	ORPHA:531151
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma, Optic atrophy	OMIM:274270
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal...	ORPHA:2511
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Telecanthus, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment ...	OMIM:617102
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Low u...	OMIM:603233
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epi...	ORPHA:1433
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Anauxetic Dysplasia 1	Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Short toe, Flare...	OMIM:607095
Smith-Mccort Dysplasia 2	Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Broad metatars...	OMIM:615222
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Vaginal hernia, Abnormality of the upper urinary tract, Elbow dislocation, Kyph...	ORPHA:2916
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism	ORPHA:1114
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ...	ORPHA:2083
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Microphthalmia With Limb Anomalies	Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchi...	OMIM:206920
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Anterior encephalocele, Coloboma, Foot oligodactyly, Holoprosencephaly	OMIM:601357
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Dry skin, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergr...	ORPHA:177
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Alopecia totalis, Aplasia/Hypoplasia of the distal phalanges o...	ORPHA:1234
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Precocious puberty, Cryptorchidism, Short ...	OMIM:620073
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Facial Clefting, Oblique, 1	Coloboma	OMIM:600251
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp...	ORPHA:2473
Endove Syndrome, Limb-Brain Type	Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger...	OMIM:619218
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Beemer Lethal Malformation Syndrome	Ambiguous genitalia	OMIM:209970
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Short neck, Humeroradial synostosis, Forearm undergrowth...	OMIM:251230
Spondyloepiphyseal Dysplasia, Nishimura Type	Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly	OMIM:618618
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, External genital hypoplasia, Abnormal hair morphology, Short toe, Erythema, ...	OMIM:242100
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Genu varum, Hip dislocation, Deep palma...	OMIM:619451
Kury-Isidor Syndrome	Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Hi...	OMIM:619762
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Epicanthus, Brachydactyly, Broad hallux, Tapered finger, Long fingers, Short toe, ...	OMIM:618659
Bardet-Biedl Syndrome 6	Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Renal cyst, Vaginal ...	OMIM:605231
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
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Brachyd...	OMIM:234250
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Autosomal Dominant Omodysplasia	Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Elbow dislocation, Cryptorchidism,...	ORPHA:93328
Acrogeria	Small hand, Skin ulcer, Fine hair, Short foot, Excessive wrinkled skin, Thin skin	ORPHA:2500
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the...	OMIM:129500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi...	OMIM:613091
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy	OMIM:601163
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Hypogonadis...	ORPHA:2269
Cat-Eye Syndrome	Hip dysplasia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Micropenis, Single transverse palmar crease, Brachydactyly	OMIM:601224
Larsen Syndrome	Finger syndactyly, Cryptorchidism, Accessory carpal bones, Vertebral segmentation defect, Abnorma...	ORPHA:503
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Sparse pubic hair, Decreased ferti...	ORPHA:243
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, Metaphyseal wi...	OMIM:250420
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly...	OMIM:236500
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb...	ORPHA:2633
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Coach Syndrome 2	Coloboma, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Polydactyly, Talipes equinovarus, Polycystic kidney dyspl...	OMIM:613885
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiphyses, Platyspo...	OMIM:612813
Suleiman-El-Hattab Syndrome	Thick eyebrow, Inguinal hernia, Single transverse palmar crease, Highly arched eyebrow, Cryptorch...	OMIM:618950
Hypomelanosis Of Ito	Syndactyly, Epicanthus, Macular hypopigmented whorls, streaks, and patches, Hand polydactyly, Rad...	OMIM:300337
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration, Ptosis	OMIM:520000
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Toe syndactyly, Breast hypoplasia,...	ORPHA:978
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Pelvis-Shoulder Dysplasia	Syndactyly, Lumbar hyperlordosis, Camptodactyly of finger, Fifth finger distal phalanx clinodacty...	ORPHA:2839
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi...	ORPHA:752
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,...	ORPHA:2973
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Lacrimal duct aplasia, Split foot, Cutaneous fing...	DECIPHER:46
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Renal hypoplasia, Short foot, Clinodactyly of ...	OMIM:619758
Odontotrichoungual-Digital-Palmar Syndrome	Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo...	OMIM:601957
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha...	ORPHA:15
Joubert Syndrome 23	Coloboma, Polydactyly	OMIM:616490
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Chilblain Lupus 1	Autoamputation of digits, Abnormality of the nail, Skin ulcer	OMIM:610448
Non-Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Cousin Syndrome	Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male, ...	OMIM:260660
Vacterl/Vater Association	Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias,...	ORPHA:887
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Disc-like vertebral bodies, Dumbbell-shaped long bone, Micromelia, Hyp...	OMIM:151210
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Short neck, Hypoplastic iliac wi...	OMIM:611717
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Brachydactyly	OMIM:615314
L-Ferritin Deficiency	Alopecia	OMIM:615604
Pseudovaginal Perineoscrotal Hypospadias	Bifid scrotum, Abnormal hair morphology, Cryptorchidism, Perineal hypospadias, Ambiguous genitali...	OMIM:264600
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Short m...	OMIM:602849
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien...	ORPHA:93111
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Urethral atresia, Hand ...	OMIM:314390
Melnick-Needles Syndrome	Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epiphyses of the phalanges of ...	ORPHA:2484
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Cryptorchidism, Congenital posterior urethral valve, Tal...	OMIM:100100
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver...	ORPHA:1427
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c...	OMIM:305400
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Squ...	OMIM:618853
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Cryptorchidism, Kyphosis, Small hand, Narrow palm, Micropenis...	OMIM:615547
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Abnor...	ORPHA:3429
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Short neck, Hypoplastic iliac wing, Micropenis, Short p...	OMIM:263650
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease...	OMIM:308050
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h...	OMIM:615994
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, External genital hypoplasia, Tapered finger, Cryptorc...	ORPHA:1867
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Unila...	OMIM:618142
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim...	OMIM:607323
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Gorlin Syndrome	Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Hem...	ORPHA:377
Maternal Uniparental Disomy Of Chromosome X	Rocker bottom foot, Camptodactyly of finger, Gonadal tissue inappropriate for external genitalia ...	ORPHA:261519
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Prolidase Deficiency	Recurrent cystitis, Abnormal fingernail morphology, Arachnodactyly, Erythema, Low anterior hairli...	ORPHA:742
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Parakeratosis, Scaling skin on fingertip, Palmoplantar hyperkeratosis, Honeycomb palmop...	ORPHA:79395
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Short neck, Hypoplasia of the uterus, Cubitus valgus, Abnormal vagina morphology,...	ORPHA:247768
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypo...	ORPHA:959
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol...	OMIM:618019
Joubert Syndrome 37	Decreased testicular size, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, Micropeni...	OMIM:619185
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange...	ORPHA:710
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Small scrotum, Bilateral single transverse palmar creases, Toe synda...	ORPHA:3253
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Toe syndactyly, Hydroureter, Single transverse palmar crease, Septate ...	OMIM:300707
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm	ORPHA:3238
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Renal hypoplasia/aplasia, Cryptorchidism, Midshaft hypospadias, Anterior...	ORPHA:2863
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Proteinuria, Supernumerary nipple, Short iliac bones, Glomerulonephritis, Metaphyseal...	OMIM:614376
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Epicanthus, Proximal placement of thumb, Abnormal thumb morphology, Hypopigmen...	ORPHA:1825
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Pseudopseudohypoparathyroidism	Short metacarpal, Short neck, Short metatarsal, Pseudohypoparathyroidism, Brachydactyly	OMIM:612463
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Classic Mycosis Fungoides	Alopecia, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abnormality of the nail	ORPHA:2584
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Renal hypoplasia, Brachydactyly	OMIM:616589
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, G...	ORPHA:206484
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Diprosopus	Abnormality of retinal pigmentation, Anencephaly	ORPHA:1681
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Sandal gap, Hypospadias, Cryptorchidism, Kyphosis, Small hand, Short foot, Hypogonadism, Delayed ...	OMIM:300354
Marinesco-Sjögren Syndrome	Short palm, External genital hypoplasia, Coxa valga, Avascular necrosis of the capital femoral ep...	ORPHA:559
15Q24 Microdeletion Syndrome	Epicanthus, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Myel...	ORPHA:94065
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Short middle phalanx of the 5th finger, Alopecia, Cutaneous finger syndactyly, Hip dislocation	OMIM:203550
Björnstad Syndrome	Alopecia, Brittle hair, Hypogonadism	ORPHA:123
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, Biconvex ver...	ORPHA:353298
2Q31.1 Microdeletion Syndrome	Synophrys, Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Iris ...	ORPHA:251014
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Camptodactyly of finger	ORPHA:1466
Kerion Celsi	Alopecia	ORPHA:499
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy, Polydactyly, Abnormality of the hand	OMIM:245800
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hypogonadism, Genu valgum, Ab...	ORPHA:1295
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysi...	ORPHA:93267
Roifman Syndrome	Hip contracture, Short metacarpal, Biconvex vertebral bodies, Single transverse palmar crease, Sh...	OMIM:616651
Schizophrenia 1	Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o...	OMIM:181510
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Nephrocalcinosis, Clitoral hypoplasia, Short palm, Thoracic hemiverteb...	OMIM:268310
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia...	ORPHA:363417
Multiple Synostoses Syndrome 4	Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair, Cranium bifid...	ORPHA:2985
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Short phalanx of finger, Broad metacarpals, Hypoplasti...	ORPHA:56304
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Short neck, Abnormality of the ureter, Renal cyst, Abnormal localizatio...	ORPHA:1834
Congenital Myopathy 19	Cryptorchidism, Renal atrophy, Hydronephrosis, Scoliosis	OMIM:618578
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad hallux, Hypospadias, Cryptorchidism, Short toe, Short metatarsal, Upper l...	ORPHA:439822
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, External genital hypoplasia, Ovotestis, Orthokeratotic hyperkeratosis, Palmoplantar ...	OMIM:610644
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Gonadal dysgen...	ORPHA:3306
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Hypoplasia of t...	OMIM:212780
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Sacral dimple, Brachydactyly, Short palm	OMIM:618522
Pseudohermaphroditism, Female, With Skeletal Anomalies	Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy, Ulnar radial head dislocation	OMIM:264270
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Ectopic kidney, Cryptorchidism, Short thumb, Dislocated r...	ORPHA:401935
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Frontometaphyseal Dysplasia 1	Limited elbow movement, Increased density of long bone diaphyses, Wrist flexion contracture, Disl...	OMIM:305620
Trisomy 1Q	Omphalocele, Multicystic kidney dysplasia, Small scrotum, Arachnodactyly, Toe syndactyly, Camptod...	ORPHA:261344
Microphthalmia, Lenz Type	Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, H...	ORPHA:568
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa...	ORPHA:1772
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Abnormality of the menstr...	OMIM:400044
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Coloboma, Long palpebral fissure, Ptosis	OMIM:614583
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Atelosteogenesis Type I	Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu...	ORPHA:1190
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Slender long bone, Hydronephrosis, Brachydactyly	OMIM:618265
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Tibial bo...	OMIM:600785
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Joubert Syndrome 14	Encephalocele, Epicanthus, Highly arched eyebrow, Postaxial polydactyly, Morning glory anomaly, H...	OMIM:614424
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Clubbing o...	OMIM:605676
Cohen Syndrome	Finger syndactyly, Chorioretinal dystrophy, Abnormality of retinal pigmentation, Arachnodactyly, ...	ORPHA:193
Osteoglosphonic Dysplasia	Rhizomelia, Cryptorchidism, Abnormal form of the vertebral bodies, Scoliosis, Brachydactyly	ORPHA:2645
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Autoamputation of digits, Palmoplantar hyperkeratosis, Palmoplantar scal...	ORPHA:100976
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Lowry-Wood Syndrome	Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Platyspondyly, Abnormal ...	ORPHA:1824
Seckel Syndrome 7	Abnormal carpal morphology, Madelung deformity, Hypoplasia of the uterus, Hip dysplasia, Lumbar s...	OMIM:614851
Hypomelia With Mullerian Duct Anomalies	Postaxial hand polydactyly, Split hand, Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Alopecia, Cryptorchidism, Postaxial hand polydactyly,...	ORPHA:85284
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Male pseud...	ORPHA:2075
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig...	ORPHA:1106
Waardenburg Syndrome, Type 3	Carpal synostosis, Telecanthus, Scapular winging, Partial albinism, Camptodactyly of finger, Syno...	OMIM:148820
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Finger clinodactyly, Bilateral talip...	ORPHA:261534
Leber Congenital Amaurosis	Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Cornelia De Lange Syndrome 2	Proximal placement of thumb, Limited elbow movement, Short neck, Small hand, Short foot, Clinodac...	OMIM:300590
Trisomy 20P	Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Short neck, P...	ORPHA:261318
Recombinant Chromosome 8 Syndrome	Cryptorchidism, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, Joint contracture of th...	OMIM:179613
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, S...	ORPHA:140
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ...	ORPHA:1826
Acrodysostosis 1 With Or Without Hormone Resistance	Neonatal epiphyseal stippling, Short metatarsal, Elevated circulating thyroid-stimulating hormone...	OMIM:101800
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Short neck, Vertebral segmentation defect, R...	OMIM:611209
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Short neck, Cryptorchidism, Rhiz...	ORPHA:163654
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly,...	OMIM:619269
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Autoamputation of digits, Hyperparakeratosis, Periorific...	OMIM:614594
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Abnormal diaphysis morphology, Skin ulcer	ORPHA:2028
Rapp-Hodgkin Syndrome	Syndactyly, Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebro...	OMIM:129400
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Small hand, Short foot, Clinodactyly of the 5th finge...	ORPHA:444002
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Hemivertebrae, Microp...	ORPHA:672
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Abnormality of the bladder, Hyperkeratosis, Hematuria, Sparse hair, Abnormal...	ORPHA:1839
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Hemivertebrae, Scoliosis, Cubitus valgus, ...	OMIM:104350
Toluene Embryopathy	Cryptorchidism, Hydronephrosis, Abnormal localization of kidney, Tapered finger	ORPHA:1920
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi...	ORPHA:1112
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Neuropathy, Hereditary Sensory, Type Iic	Autoamputation of digits, Acral ulceration, Intrinsic hand muscle atrophy	OMIM:614213
Wolfram Syndrome 1	Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Limited mobility of proxi...	OMIM:222300
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Senior-Loken Syndrome	Cone-shaped epiphysis, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forearm bowing, Micromeli...	OMIM:600383
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased palmar creases, Triphalangeal thumb, Aplasia of the ovary, Aplasia/...	ORPHA:2232
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Scoliosis, Macroorchidism, Brachydactyly	ORPHA:776
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hip contracture, Elbow flexion contracture, Hydronephrosis	ORPHA:85285
Oeis Complex	Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Hemivertebrae, Ambiguous gen...	OMIM:258040
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli...	OMIM:614091
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A...	OMIM:613464
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Tetrasomy 15Q26	Arachnodactyly, Kyphoscoliosis, Horseshoe kidney, Camptodactyly, Hydronephrosis	OMIM:614846
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal...	OMIM:609945
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm,...	OMIM:300232
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bowin...	OMIM:108720
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Abnormality of the upper urinary tract, Abnormality of the urethra...	ORPHA:2145
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Skin ulcer, Abnormal diaphysis morphology, Abnormal m...	ORPHA:1657
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Single transverse palmar crease, Micromelia, Monkey wrench femoral neck, Hyperl...	OMIM:618870
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
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Brachydactyly	ORPHA:2762
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Sh...	ORPHA:2879
Trisomy 13	Cryptorchidism, Postaxial hand polydactyly, Kyphosis, Abnormality of the ureter, Abnormal pelvic ...	ORPHA:3378
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Microcephaly, Short Stature, And Limb Abnormalities	Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,...	OMIM:617604
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Hydroureter, Abnormal form of the vertebral bodies,...	ORPHA:1458
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ...	ORPHA:1515
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Single transverse palmar crease, Highly arched eyebrow, Bilateral ptosis, Synophrys, Slender fing...	ORPHA:329224
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Abnormality of the ureter, ...	ORPHA:1770
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ...	ORPHA:166024
Monosomy 5P	Finger syndactyly, Epicanthus, Downslanted palpebral fissures, Small hand	ORPHA:281
Rhyns Syndrome	Renal insufficiency, Radial bowing, Decreased response to growth hormone stimulation test, Chroni...	OMIM:602152
Zaki Syndrome	Sacral dimple, Toe syndactyly, Renal agenesis, Long fingers, Ectrodactyly, Broad distal phalanx o...	OMIM:619648
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Hip dysplasia, Scol...	OMIM:618494
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia	ORPHA:346
Trichothiodystrophy 9, Nonphotosensitive	Brachydactyly	OMIM:619692
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Short hallux, Supernumerary nipple, Abn...	ORPHA:3224
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short neck, Short toe, Short metatarsal, Pseudohypoparathyroidism, Elevated cir...	OMIM:103580
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Toe syndactyly, Abnormality of the kidney, Short middle pha...	ORPHA:391641
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Femoral bowing, Abnormal ovarian morphology, Vesicoureteral reflux, Micropeni...	ORPHA:95699
Opsismodysplasia	Abnormally ossified vertebrae, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypop...	ORPHA:2746
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Abnormal femoral epiphysis morp...	ORPHA:3218
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh...	ORPHA:464288
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Hypop...	OMIM:614900
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi...	OMIM:220210
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, Genu varum, ...	OMIM:271510
Chromosome 17Q12 Deletion Syndrome	Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Cryptorchidism, Renal hypoplasia,...	OMIM:614527
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Tetraploidy	Hydronephrosis, Radial club hand, Aplasia/Hypoplasia of the thymus, Renal hypoplasia/aplasia	ORPHA:3305
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Alopecia, Inguinal hernia, Short metacarpal, Absent eyelashes, Cry...	ORPHA:166035
Blepharocheilodontic Syndrome 2	Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Euryblepharon, Distichiasis	OMIM:617681
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ...	OMIM:210720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Coloboma, Hydrocephalus	OMIM:613153
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Fragile nails, ...	OMIM:226650
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Lumbar hyperlordosis, Bowing of the legs, ...	OMIM:100800
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i...	OMIM:262000
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Highly arched eyebrow, Short first metatarsal, Long eyelash...	OMIM:613684
Distal Triplication 15Q	Abnormal external genitalia, Arachnodactyly, Abnormality of the kidney, Kyphosis, Dilatation of t...	ORPHA:314588
Otodental Dysplasia	Coloboma	OMIM:166750
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Cryptorchidism, Patchy alopecia, Talipes equinovarus, Sh...	ORPHA:85279
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Sacral d...	ORPHA:1327
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Abnormality of the kidney, Micromelia, Hypoplastic ilia, A...	ORPHA:1860
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t...	OMIM:601356
Vitamin K Antagonist Embryofetopathy	Short neck, Punctate vertebral calcifications, Epiphyseal stippling, Short distal phalanx of fing...	ORPHA:1914
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Summitt Syndrome	Syndactyly	OMIM:272350
Feingold Syndrome	Hallux valgus, Toe syndactyly, Deviation of the 2nd finger, Abnormal form of the vertebral bodies...	ORPHA:1305
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Short neck, H...	ORPHA:3015
Blepharocheilodontic Syndrome 1	Lagophthalmos, Ectropion of lower eyelids, Cutaneous syndactyly, Neural tube defect, Euryblepharo...	OMIM:119580
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis, Porphyrinuria	OMIM:176100
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Genitopatellar Syndrome	Sparse scalp hair, Hip contracture, Small scrotum, Multicystic kidney dysplasia, Hypoplastic isch...	ORPHA:85201
Chilblain Lupus	Hyperkeratosis, Finger swelling, Skin ulcer	ORPHA:90280
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Hypospadias, Decreased fibular diameter, Short neck, Flared metaph...	OMIM:616897
Frank-Ter Haar Syndrome	Camptodactyly of finger, Kyphosis, Scoliosis, Abnormal metacarpal morphology, Clinodactyly of the...	ORPHA:137834
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Wrist swelling, Retinal pigment epithelial mottling, Chor...	ORPHA:448237
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Kyphoscoliosis, Short foot, Urinary urgency, Hammertoe, Camptodactyl...	OMIM:275900
Thanatophoric Dysplasia	Abnormality of the kidney, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Hip dyspla...	ORPHA:2655
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93260
Temtamy Syndrome	Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum	ORPHA:1777
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, El...	ORPHA:99776
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Aplasia of the uterus, Aplasia of th...	ORPHA:69085
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Hypospadias, Abnormal thumb morphology, Thin eyebrow, Cl...	ORPHA:3242
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Transverse vaginal septum, Ureterocele, Sparse hair, Vesicoureteral reflux, Micropenis, Hypogonad...	OMIM:129900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Kyphoscoliosis, Cox...	OMIM:617425
Silver-Russell Syndrome 3	Syndactyly, Unilateral cryptorchidism, Small hand, Clinodactyly of the 5th finger, Ambiguous geni...	OMIM:616489
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Werner Syndrome	Sparse scalp hair, Renal neoplasm, Rocker bottom foot, Abnormal hair whorl, Small hand, Decreased...	ORPHA:902
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelash...	OMIM:137940
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis, Lack of skin elasticity	ORPHA:1366
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,...	OMIM:272460
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmopla...	OMIM:612843
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn...	DECIPHER:81
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered finger, Thenar muscle atrophy,...	OMIM:612350
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Ollier Disease	Precocious puberty, Abnormal metaphysis morphology, Skin ulcer, Micromelia	ORPHA:296
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral...	ORPHA:90797
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum morphology, Verte...	ORPHA:1926
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti...	OMIM:258860
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Cryptorchidism, Patellar aplasia, Vesicoureteral reflux, Hyd...	ORPHA:96061
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, M...	ORPHA:347
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia, Micropenis, Hypospadias	OMIM:618840
Endocrine-Cerebroosteodysplasia	Small scrotum, Single transverse palmar crease, Micromelia, Preaxial polydactyly, Tibial bowing, ...	OMIM:612651
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Male pseudohermaphroditism, Trapezoidal vertebral body, Short phala...	OMIM:600092
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Epicanthus, Arachnodactyly, Camptodactyly of finger, Abnormal retinal vascular...	ORPHA:2994
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Abnormality of the nail, Finger syndactyly, Alopecia, Multicysti...	ORPHA:2092
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:858
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Optic atrophy, Melanocytic nevus, ...	ORPHA:2801
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Abnorm...	ORPHA:920
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Renal hypoplasia/aplasia...	ORPHA:1590
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r...	OMIM:617895
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Epicanthus, Hydrocephalus, Polydactyly, Downslanted palpebral fissures	OMIM:602501
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Irregul...	OMIM:226960
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Sparse hair, Dystrophic fingernails, Abnormal morphology of ulna, A...	ORPHA:1340
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Brachydactyly, Abnormality of the elbow, Hip dislocation, Hyperkerat...	ORPHA:1005
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Redundant neck skin, Hypospadias, Rocker bottom foot, Coxa valga, C...	OMIM:301056
Campomelia, Cumming Type	Bowing of the long bones, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micromelia...	ORPHA:1318
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Urethral atresia, Coarse hair, Vesi...	ORPHA:1896
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Micromelia	ORPHA:2772
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Neonatal epi...	ORPHA:35173
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Abnormality of the elbow, Abnormal intervertebral disk morphology, Brachydactyly	ORPHA:2701
Alg6-Cdg	Puberty and gonadal disorders, Shortening of all distal phalanges of the fingers, Increased circu...	ORPHA:79320
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
20P13 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Highly arched eyebrow, Synophrys, Narrow palpebral fissure, Polyd...	ORPHA:313781
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Absent external genitalia, Short neck, Hemivertebrae, Urethral...	OMIM:271520
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Single transverse palmar crease...	OMIM:618161
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Pancreatic fibrosis, Proteinuria, Pancreatic cysts, ...	OMIM:208500
Laron Syndrome	Hypoplasia of penis, Abnormality of the endocrine system, Short toe, Abnormality of the elbow, De...	ORPHA:633
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Skin ulcer, Hyperkeratosis, Onycholysis	ORPHA:525
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Hemivertebrae, Punctate vertebral ...	OMIM:302960
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Congenital hip dislocation, Orbital encephalocele	OMIM:164180
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Transverse vaginal septum, Ureterocele, Vesicoureteral reflux, Micropenis, Hypogonadotropic hypog...	OMIM:604292
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy, Joint contracture of ...	OMIM:609033
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Coloboma, Hamartoma...	ORPHA:2399
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Inguinal hernia, Hydronephrosis, Small nail	OMIM:235760
Acrofrontofacionasal Dysostosis	Bifid scrotum, Hypospadias, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, S...	ORPHA:1784
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Hypospadias, Cryptorchidism, Small hand, Short palm, Clinodacty...	ORPHA:1786
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ...	ORPHA:90652
Distal Duplication 6P	Abnormal hair quantity, Abnormal eyelash morphology, Renal hypoplasia, Fine hair, Abnormality of ...	ORPHA:1745
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Upslanted palpebral fissure, Coloboma, Clinodactyly, Talipes equinovarus	OMIM:616789
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short neck, Elevated circulating thyroid-stimulating hormone concentration, Sho...	OMIM:612462
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Short fourth metatarsal, Short fifth metatarsal, Clinodactyly of the 5th toe, 2-3 toe s...	OMIM:261990
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Cryptorchidism, Split hand, Hypo...	ORPHA:1300
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Vesicoureteral reflux, Short foot, Hydronep...	ORPHA:250989
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Brachydactyly	ORPHA:2180
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy, Bilateral single transverse palmar creases, P...	ORPHA:44
Spinocerebellar Ataxia, Autosomal Recessive 20	Kyphoscoliosis, Oligosacchariduria, Talipes equinovarus, Scoliosis, Camptodactyly, Clinodactyly, ...	OMIM:616354
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Short neck, Kyphosis, He...	ORPHA:7
Ablepharon-Macrostomia Syndrome	Omphalocele, Absent eyebrow, Short metacarpal, Toe syndactyly, Redundant skin, Absent eyelashes, ...	OMIM:200110
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Cryptorchidism, Calcaneovalgus deformity, Hy...	OMIM:612513
Woolly Hair Nevus	Precocious puberty, Brachydactyly	ORPHA:79414
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Telecanthus, Epicanthus, Rocker bottom foot, Hydrocephalus, Short 2nd toe, Hip dysplas...	OMIM:612582
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy, Ptosis	OMIM:619473
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Arachnodactyly, Abnormality of retinal pigmentation	ORPHA:171844
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Nephropathy, Hypothyroidism, Short distal phalanx of fin...	ORPHA:1563
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Renal salt wasti...	ORPHA:90795
46,Xy Sex Reversal 9	Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia	OMIM:616067
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Cohen Syndrome	Short metacarpal, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Single transv...	OMIM:216550
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal sacrum morphology, Brachydactyly, Abnormal form of the vertebral bodies, Abnormal metaca...	ORPHA:93262
Orofaciodigital Syndrome Viii	Syndactyly, Telecanthus, Short tibia, Polydactyly	OMIM:300484
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Increased carrying angle, Nephropathy, Brachydactyly	OMIM:247410
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis, Scoliosis	OMIM:620141
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,...	OMIM:218600
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn...	ORPHA:1225
Verheij Syndrome	Branchial cyst, Optic nerve hypoplasia, Hip dislocation, Coloboma, Short 5th finger, Clinodactyly	OMIM:615583
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,...	OMIM:601076
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Flared metaphysis, Prominent inte...	OMIM:215150
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Ulnar deviation of the hand, Hypogonadotropic hypogonadism	OMIM:612079
Trisomy 17P	Hypoplasia of penis, Urethral valve, Tapered finger, Urethral stenosis, Low posterior hairline, H...	ORPHA:261290
Mohr Syndrome	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysis, Postaxial f...	OMIM:252100
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala...	OMIM:609465
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Chronic kidney disease, Cone-shaped epiphyses of the phalanges of the...	OMIM:615630
Cree Mental Retardation Syndrome	Rocker bottom foot, Coloboma, Cutaneous finger syndactyly, Downslanted palpebral fissures, Ptosis	OMIM:606851
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Preaxial hand polydactyly, Hand polydactyly, Hypogona...	ORPHA:2316
Chronic Mucocutaneous Candidiasis	Dyspareunia, Recurrent urinary tract infections, Abnormal fingernail morphology, Erythema, Broad ...	ORPHA:1334
Koolen-De Vries Syndrome	Ureteral duplication, Vertebral fusion, Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Hi...	ORPHA:96169
Tonne-Kalscheuer Syndrome	Decreased testicular size, Hypospadias, Cryptorchidism, Micropenis, Broad thumb, Brachydactyly	OMIM:300978
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Lacrimal duct atresia, Split foot, Camptodactyly, Joint co...	OMIM:603543
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho...	OMIM:615503
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, 3-4 finger syndactyly, 2-3 toe syndactyly, Long palpebral fissure	OMIM:600906
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Tapered finger, Hypoplastic toenails, Dystrophic toenai...	ORPHA:2930
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Kyphosis, Abnormal form of the verte...	ORPHA:3219
Menkes Disease	Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Cutis laxa, Sparse hair	OMIM:309400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Encephalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Sq...	OMIM:616300
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi...	ORPHA:634
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Coloboma, Iris transillumination defect, Shallow orbits, Clinodactyly of the 5th finger, Generali...	OMIM:617306
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ...	ORPHA:1581
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Abnormal eyelid morphology, Ectropion of lower eyelids, Euryblepharon, Distich...	ORPHA:1997
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c...	ORPHA:485405
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Clinodactyly of the 5th...	ORPHA:3103
Thanatophoric Dysplasia Type 2	Abnormality of the kidney, Micromelia, Kyphosis, Platyspondyly, Abnormal metaphysis morphology, B...	ORPHA:93274
Pachyonychia Congenita	Alopecia, Palmoplantar blistering, Paronychia, Onychogryposis of toenails, Linear arrays of macul...	ORPHA:2309
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Cerebellar Ataxia-Hypogonadism Syndrome	Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Ptosis	OMIM:252011
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta, Long eyelashes, Thick eyebrow	ORPHA:1514
Srd5A3-Cdg	Optic disc hypoplasia, Optic atrophy, Coloboma, Palmoplantar keratoderma, Spotty hyperpigmentatio...	ORPHA:324737
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta, Hydronephrosis	OMIM:618060
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Coloboma	OMIM:619318
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Multiple Sulfatase Deficiency	Broad hallux phalanx, Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Broad th...	ORPHA:585
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Thickened glomerular basem...	OMIM:146255
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, H...	ORPHA:1507
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Macs Syndrome	Alopecia, Hypergonadotropic hypogonadism, Single transverse palmar crease, Redundant skin, Sparse...	OMIM:613075
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, Foot ol...	OMIM:276820
Grange Syndrome	Syndactyly, Renovascular hypertension, Finger clinodactyly, Renal artery stenosis, Brachydactyly	OMIM:602531
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge...	OMIM:274000
Pontocerebellar Hypoplasia, Type 11	Coloboma, Talipes equinovarus	OMIM:617695
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Short neck, Abnormality of the uter...	ORPHA:199
Osteoglophonic Dysplasia	Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar...	OMIM:166250
Trisomy 9P	Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Clino...	ORPHA:236
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Glandular hypospadias, Ulnar deviation of finger, Talipes...	ORPHA:1358
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm...	ORPHA:3027
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Kyphoscoliosis, Coxa valga, Tapered finger, Cryptorchidism, Kyphosis...	OMIM:301040
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Abs...	ORPHA:158687
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Metaphyseal widening, Abnormality of the first metatarsal ...	OMIM:135100
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Joubert Syndrome 3	Epicanthus, Retinal dystrophy, Highly arched eyebrow, Pigmentary retinopathy, Ptosis	OMIM:608629
Hall-Riggs Syndrome	Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnormal metaphysis mo...	ORPHA:2107
Waardenburg Syndrome Type 3	Telecanthus, Camptodactyly of finger, White hair, Abnormal finger morphology, Cutaneous finger sy...	ORPHA:896
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Stevenson-Carey Syndrome	Coloboma, Hip dysplasia, Camptodactyly, Joint contracture of the hand, Downslanted palpebral fiss...	OMIM:611961
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Palmar telangiec...	ORPHA:69735
Takenouchi-Kosaki Syndrome	Inguinal hernia, Hypospadias, Overlapping toe, Highly arched eyebrow, Proximal placement of thumb...	OMIM:616737
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Short neck, Fetal pyelectasis, Nephroca...	ORPHA:264450
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Hammertoe, Abnormal epiphysis morphology, ...	ORPHA:773
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Postaxial hand polydactyly, Pigmentary retinopa...	ORPHA:110
Lumbar Syndrome	Bifid scrotum, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeni...	ORPHA:83628
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Thyroid lymphangiectasia, Hypoplastic iliac wing, Cryptorchidism, Ectopic kidney, Small hand, Spi...	OMIM:235510
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Rhizomelic Chondrodysplasia Punctata, Type 1	Epiphyseal stippling, Alopecia, Flared metaphysis, Rhizomelia	OMIM:215100
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uteru...	OMIM:154230
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morphology, Abno...	ORPHA:2636
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clinodactyly of ...	OMIM:136140
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Blepharop...	ORPHA:1252
10Q22.3Q23.3 Microduplication Syndrome	Ambiguous genitalia, Hypospadias	ORPHA:276422
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Smith-Magenis Syndrome	Abnormality of the thyroid gland, Abnormal renal morphology, Broad palm, Abnormality of the urina...	OMIM:182290
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Bilateral ptosis, Pigmentary retinopathy	ORPHA:329336
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus	ORPHA:893
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Short neck, Precocious puberty, Long fingers, Cryptorchidism, Hip disl...	ORPHA:96092
Aredyld Syndrome	Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Type II diabetes mellitus, Sco...	ORPHA:1133
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Palpebral edema, Single transverse palmar crease, Metatarsus adductus, Brushfield spo...	OMIM:214110
German Syndrome	Abnormal eyebrow morphology, Camptodactyly of finger, Cryptorchidism, Synophrys, Ambiguous genitalia	ORPHA:2077
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Hypospadias, Kyphosis, Devia...	ORPHA:464738
Triploidy	Omphalocele, Finger syndactyly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Meningocele, Am...	ORPHA:3376
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Kyphoscoliosis, Cryptorchidism, Partial duplication of thumb phalan...	OMIM:616331
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Abnorma...	ORPHA:3447
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Broad hallux, Single transverse palmar crease, Retinal pigment epithelial mottling, D...	OMIM:614105
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy...	ORPHA:370959
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Hip dislocation	ORPHA:370968
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Coloboma, Hydrocephalus, Retinal degeneration	OMIM:615249
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Palmopl...	ORPHA:659
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Rin2 Syndrome	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, Scoliosis, Brach...	ORPHA:217335
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Diabetes mellitus, Hypoplastic sacrum, Short metatar...	OMIM:614813
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sc...	ORPHA:508533
46,Xy Sex Reversal 8	Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia	OMIM:614279
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Alopecia of scalp	OMIM:618373
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn...	ORPHA:2975
Bent Bone Dysplasia Syndrome 1	Bent long bone, Hypoplastic pubic bone, Short clavicles, Clitoral hypertrophy, Brachydactyly	OMIM:614592
Ring Chromosome 21 Syndrome	Syndactyly, Small hand, Narrow palm, Holoprosencephaly, Multiple cafe-au-lait spots, Clinodactyly	ORPHA:1445
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Supernumerary...	ORPHA:261349
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short neck, Short metatarsal, Tibial bowing, Femoral bowing, Short me...	OMIM:304120
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation, Camptodactyly of finger	ORPHA:2521
Melnick-Needles Syndrome	Short humerus, Hypoplastic scapulae, Ureteral stenosis, Anterior concavity of thoracic vertebrae,...	OMIM:309350
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Alopecia, Brachydactyly, Absent toe, Split hand, Absent hand, A...	ORPHA:974
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Redundant neck skin, Cryptorchidism, Postaxial hand polydactyly, Abnormal renal ...	ORPHA:1655
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Arachnodactyly, Hypogonadism, Infertility, Oligomenorrhea, Delayed menarche, Adducted t...	ORPHA:412057
Fetal Trimethadione Syndrome	Ambiguous genitalia, Synophrys, Hypospadias, Bilateral single transverse palmar creases	ORPHA:1913
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior...	ORPHA:235
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Slow-growing hair, Single transverse palmar crease, High...	OMIM:272950
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiphyseal ossification, P...	OMIM:114290
Jansen-De Vries Syndrome	Short foot, Hyperlordosis, Small hand, Brachydactyly	OMIM:617450
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th...	OMIM:192350
Apert Syndrome	Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys...	OMIM:101200
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Wolfram Syndrome, Mitochondrial Form	Diabetes mellitus, Diabetes insipidus, Hydronephrosis, Hydroureter	OMIM:598500
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Hydroureter, Camptodactyly of finger, Abnormality of the hand, A...	ORPHA:2273
Joubert Syndrome 8	Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy, Ptosis	OMIM:612291
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Alopecia, Inguinal hernia, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equ...	ORPHA:536532
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Mulibrey Nanism	Thickened cortex of long bones, Pigmentary retinopathy, Single transverse palmar crease, Iris col...	OMIM:253250
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint contracture of the...	OMIM:618914
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bowing of the legs, Short toe, Anencephaly, B...	OMIM:269860
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Postaxial hand polydactyly, Renal hypoplasia, Coarse hair, Nail dystrophy	ORPHA:75389
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer	ORPHA:312
Orofaciodigital Syndrome Type 1	Brittle hair, Coarse hair, Clinodactyly of the 5th finger, Sparse hair, Finger syndactyly, Alopec...	ORPHA:2750
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Brittle hair, Congenital hip dislocation, Osteopathia striata,...	OMIM:305600
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Rhizomelia, 2-3 toe syndactyly, Coloboma, Long eyelashes, 3-4 finger syndactyly, Cryp...	OMIM:615877
Intellectual Disability, Buenos-Aires Type	Clinodactyly of the 5th finger, Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvic gir...	ORPHA:3079
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, Short phalanx of ...	OMIM:143095
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Abnormality of retinal pigmentation	ORPHA:1496
Sirenomelia	Spina bifida, Renal hypoplasia/aplasia, Sirenomelia, Aplasia/Hypoplasia of the radius, Abnormalit...	ORPHA:3169
Autosomal Dominant Keratitis	Aniridia, Coloboma, Hypoplasia of the fovea, Macular hypoplasia	ORPHA:2334
Trisomy 18	Abnormality of retinal pigmentation, Epicanthus, Camptodactyly of finger, Spina bifida, Postaxial...	ORPHA:3380
Marcus-Gunn Syndrome	Unilateral ptosis, Coloboma, Morning glory anomaly	ORPHA:91412
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Alopecia, Avascular necrosis of the capital femoral epiphysis, Cryptorchidism...	OMIM:613990
White Forelock With Malformations	Finger syndactyly, Epicanthus, White forelock, Clinodactyly of the 5th finger, Spina bifida occulta	ORPHA:2475
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Decreased response to growth hormone stimulation test, Tapered finger...	OMIM:616007
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Cone-shaped epiphysis, Palmoplantar keratoderma, Arachnodactyly, Brachydactyly	ORPHA:2824
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Short metacarpal, Epicanthus, Pseudoepiphyses of the metacar...	ORPHA:192
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Musculocontractural Ehlers-Danlos Syndrome	Decreased palmar creases, Cervical kyphosis, Tapered finger, Kyphoscoliosis, Cryptorchidism, Func...	ORPHA:2953
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Arachnodac...	ORPHA:2461
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Aplasia/...	ORPHA:1647
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Scaling skin, Neonatal death, Dystrophic fingernails, Absent eyebr...	OMIM:308205
Chime Syndrome	Abnormality of the kidney, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi...	ORPHA:3474
Noonan Syndrome 4	Curly hair, Ureteral duplication, Sparse eyebrow, Cryptorchidism, Webbed neck, Cubitus valgus, Hi...	OMIM:610733
Gapo Syndrome	Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Nephrolithiasis, Oligozo...	ORPHA:2067
Acrootoocular Syndrome	Epicanthus, Short metacarpal, Small hypothenar eminence, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Coloboma, Abnormal optic disc morphology, Short palm, Clinodactyly of the 5th ...	ORPHA:508498
Al-Raqad Syndrome	Sandal gap, Brachydactyly	OMIM:616459
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Short neck, Cryptorchidism, Deep palmar crease, Dis...	ORPHA:1752
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Single transverse palmar crease, Short neck, Tibi...	OMIM:269150
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism	ORPHA:228390
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum	ORPHA:168593
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Single transverse palmar crease, Kyphosis, 2-3 toe syndactyly, Scoliosis, Hydronephr...	OMIM:616449
Teebi Hypertelorism Syndrome 2	Syndactyly, Upper eyelid coloboma, Clinodactyly of the 5th finger, Thick eyebrow, Ptosis	OMIM:619736
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Optic disc pallor, Postaxial hand polydactyly, Coloboma, ...	OMIM:216360
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Coloboma, ...	ORPHA:1297
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure...	ORPHA:2907
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hyperlordosis, ...	ORPHA:794
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Vesicouretera...	OMIM:617159
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Dysostosis, Stanescu Type	Bowing of the long bones, Micromelia, Short neck, Hyperlordosis, Kyphosis, Abnormal epiphysis mor...	ORPHA:1798
Cardioacrofacial Dysplasia 2	Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ...	OMIM:619143
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous genitalia,...	OMIM:250790
H Syndrome	Hallux valgus, Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Abnormality of the...	ORPHA:168569
Solitary Median Maxillary Central Incisor	Coloboma, Cyclopia, Holoprosencephaly	OMIM:147250
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Macular degeneration, Choroidal neovascularization, Congenital bilateral hip dislocation	ORPHA:404451
Neurooculocardiogenitourinary Syndrome	Coloboma, Epicanthus, Abnormality of the palmar creases	OMIM:618652
Smith-Magenis Syndrome	Toe syndactyly, Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Abnormal...	ORPHA:819
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Micropenis, Hypospadias, Enlar...	ORPHA:90796
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Ptosis, Melanocytic nevus, Multiple cafe-...	ORPHA:1969
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Cryptorchi...	ORPHA:783
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Autoamputation of digits, Urinary incontinence, Osteolytic defects of the phalanges of the hand, ...	OMIM:613115
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Single transverse palmar crease, Mo...	OMIM:615777
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cr...	ORPHA:2886
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Epicanthus, Short metacarpal, Absent palmar crease, Pigmentary retinopathy, Camptodac...	OMIM:614230
Adams-Oliver Syndrome 2	Alopecia, Single transverse palmar crease, Low anterior hairline, Absent distal phalanges, Short ...	OMIM:614219
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys...	ORPHA:2237
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Joubert Syndrome 33	Cone/cone-rod dystrophy, Syndactyly	OMIM:617767
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Sparse eyebrow, ...	ORPHA:175
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Sparse hair, Highly arched eyebrow, ...	OMIM:280000
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Upslanted palpebral fissure, Syndactyly, Clinodactyly, Arachnodactyly	OMIM:619092
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Long toe, Inguinal hernia, Redundant neck skin, Overlapping toe, Single transverse p...	ORPHA:254528
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Short 2nd finger, Broad hallux, Sandal gap, Highly arched eyebrow, Sp...	OMIM:600987
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Omenn Syndrome	Alopecia, Short toe, Nephrotic syndrome, Abnormal metaphysis morphology, Dry skin, Aplasia/Hypopl...	ORPHA:39041
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Blepharophimosis, Syndactyly, Epicanthus, Camptodactyly	OMIM:616006
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Abnormal metaphysis morphology	ORPHA:290
Robinow Syndrome	Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Webbed penis, Mic...	ORPHA:97360
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Broad hallux, Dacryocystitis, Slender finger, Small hand, Tibial bowing, Short foot, Coloboma, Bi...	ORPHA:251028
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Cryptorchidism, Long eyelashes, Horizontal eyebrow, Hydronephrosis	OMIM:609757
Koolen-De Vries Syndrome	Vertebral fusion, Recurrent urinary tract infections, Sacral dimple, Cryptorchidism, Kyphosis, Hy...	OMIM:610443
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short neck, Brachydactyly	ORPHA:436245
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Duplicated collecting system, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot...	ORPHA:488642
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Coffin-Siris Syndrome 2	Cryptorchidism, Brachydactyly, Sandal gap, Short distal phalanx of finger	OMIM:614607
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short metacarpal, Toe syndactyly, Hyperthyroidism, Short metatarsal, Small hand...	OMIM:170390
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Hypothyroidism, Short toe, Short phalanx of finger, Ty...	OMIM:600430
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Cryptorchidism, Hydronephrosis, Brachydactyly	ORPHA:457193
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Abnormal tibia morpho...	ORPHA:93929
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy, Ptosis	OMIM:256000
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Vertebral segm...	ORPHA:373
Coffin-Siris Syndrome 6	Clinodactyly, Kyphoscoliosis, Brachydactyly	OMIM:617808
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Sacral dimple, Abnormality of thyroid physiology, Postaxial polydactyly, Tapered finger, Small ha...	OMIM:300968
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Premature ovarian insufficiency, Short metacarpal, Alopecia totalis, Meta...	ORPHA:221008
Oculomaxillofacial Dysostosis	Abnormality of the humerus, Adducted thumb, Camptodactyly of finger, Brachydactyly	ORPHA:1794
Distal Deletion 10Q	Scapular winging, Lumbar hyperlordosis, Sandal gap, Single transverse palmar crease, Tapered fing...	ORPHA:96148
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Vertebral clefting, Hemivertebrae, 2-3 toe syndactyl...	OMIM:614701
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin...	ORPHA:314585
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Epicanthus, Finger syndactyly, Micromelia, Hydroc...	ORPHA:1908
Incontinentia Pigmenti	Finger syndactyly, Alopecia, Abnormal fingernail morphology, Camptodactyly of finger, Supernumera...	ORPHA:464
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Scolio...	OMIM:618653
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Anterior pituitary hypoplasia, Hypospadias, Unilat...	ORPHA:464306
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Tapered toe, Tape...	ORPHA:544488
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb...	OMIM:229850
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Coloboma, Optic atrophy	OMIM:612379
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ...	OMIM:617466
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Clinodactyly, Single transverse palmar crease, Brachydactyly, Camptodactyly	OMIM:613604
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Small hand, Short foot, Short palm, Clinodactyly...	OMIM:300712
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Short neck, Tibial bowing, Femoral bowing, Short tibia, Short ph...	OMIM:601559
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hyperphosphaturia, Precocious puberty, Abnormal toe morphology, Abnormal finger morphol...	OMIM:163200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Inguinal hernia, Redundant neck skin, Cryptorchidism, Postaxial hand polydactyly, Micropenis, Hyd...	OMIM:235255
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Lacrimal duct stenosis, Arachnodactyly, Sparse eyebrow, Short ...	ORPHA:73246
Greenberg Dysplasia	Micromelia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Absent or...	OMIM:215140
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Aarskog-Scott Syndrome	Finger syndactyly, Epicanthus, Single transverse palmar crease, Camptodactyly of finger, Small ha...	ORPHA:915
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h...	OMIM:619879
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal...	ORPHA:1452
Cardiofacioneurodevelopmental Syndrome	Cryptorchidism, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly	OMIM:619123
Trichorhinophalangeal Syndrome Type 2	Recurrent urinary tract infections, Bilateral single transverse palmar creases, Avascular necrosi...	ORPHA:502
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, 2-3 toe ...	OMIM:106260
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Small scrotum, Highly arched eyebrow, Supernumerary nipple, Cryptor...	OMIM:618454
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Micropenis, Mesomelia, Clitoral ...	OMIM:616894
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Br...	OMIM:614800
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Proximal placement of thumb, Short neck, Cryptorchidism, Short palm, Cli...	OMIM:217980
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia,...	ORPHA:90153
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Re...	OMIM:277170
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Necrobiosis Lipoidica	Erythema, Skin ulcer, Abnormality of the hand, Abnormal forearm morphology	ORPHA:542592
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Thin skin, Skin ulcer, Purpura	ORPHA:743
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Hip dislocation	OMIM:619059
Infantile Myofibromatosis	Abnormal hair morphology, Abnormal metaphysis morphology, Abnormality of the kidney, Skin ulcer	ORPHA:2591
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Tapered finger, Cryptorchidism, Short toe, Kyphosis, Rena...	ORPHA:464311
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hydrocephalus, Split hand, Umbilical hernia, Pt...	OMIM:309900
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Abnormal localization of...	ORPHA:2510
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Sandal gap, Abnormal retinal vascular morphology, Optic atro...	ORPHA:2715
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Sparse hai...	OMIM:607626
Monosomy 18P	Webbed neck, Alopecia, Brachydactyly, Low posterior hairline	ORPHA:1598
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Dacryocystitis, Abnormal pelvis bone ossification, A...	ORPHA:166119
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Sézary Syndrome	Alopecia, Palmoplantar keratoderma, Nail dystrophy, Dry skin	ORPHA:3162
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Genu varum, Nephrolithiasis, Genu valgum, Abnormal hip bone morphology, Abnormal metaph...	ORPHA:93160
Hemochromatosis, Type 1	Alopecia, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Amenorrhea	OMIM:235200
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal form of the verte...	ORPHA:2021
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Unilateral breast hypoplasia, ...	OMIM:304110
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Epispadias, Coxa vara, Clitoral hypoplasia, Short palm, Clinodac...	ORPHA:3107
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl...	ORPHA:2256
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia	OMIM:613571
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular...	ORPHA:49041
Pycnodysostosis	Aplastic clavicle, Osteolytic defects of the distal phalanges of the hand, Scoliosis, Spondylolys...	OMIM:265800
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Hip dysplasia, Delayed puberty, Dysplasia of second lumbar vertebra, Shor...	OMIM:208060
Floating-Harbor Syndrome	Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Short m...	ORPHA:2044
Lissencephaly, X-Linked, 2	Ambiguous genitalia, Micropenis, Decreased testicular size	OMIM:300215
Robinow Syndrome, Autosomal Dominant 1	Short neck, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of han...	OMIM:180700
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog...	ORPHA:1775
Distal Deletion 12Q	Single transverse palmar crease, Ectopic kidney, Short neck, Aplasia/Hypoplasia of the middle pha...	ORPHA:96149
Acrocallosal Syndrome	Finger syndactyly, Epicanthus, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifi...	OMIM:200990
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Recurrent urinary tract infections, Abnormality of the ...	ORPHA:847
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Kyphosis, 2-3 toe ...	OMIM:617061
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Retinal dystrophy, Proximal placement of thumb, Postaxial foot polydactyly, Ch...	ORPHA:139471
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Narrow foramen obturatorium, Skin ulcer	ORPHA:220402
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Au-Kline Syndrome	Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polydactyly, Coxa valga, Super...	OMIM:616580
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Short neck, Cryptorchidism, Vesicoureteral reflux, Bic...	ORPHA:2059
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Absent thumb, Cryptorchidism, Hypoplasia of the radius, Apla...	ORPHA:96097
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal fingertip morphology, Abnormal hair morphology, Nail dystrophy, Osteolytic def...	ORPHA:90154
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
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Ureteral duplication, Renal insufficiency, Renal dysplasia, Tapered toe, Long-chain dic...	OMIM:608836
Bardet-Biedl Syndrome 1	Decreased testicular size, Syndactyly, Diabetes mellitus, Abnormality of the kidney, Postaxial po...	OMIM:209900
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Renal agenesis, Renal hypoplasia/aplasia, Bilateral cryptorchi...	ORPHA:2754
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypospadias, Brachydac...	ORPHA:2959
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp...	OMIM:300219
Distal Deletion 9P	Hypoplastic labia majora, Hypospadias, Short neck, Brachydactyly	ORPHA:1642
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Polydactyly, Pigmentary retinopathy	OMIM:616562
Rothmund-Thomson Syndrome Type 2	Patellar hypoplasia, Facial erythema, Sparse hair, Short phalanx of finger, Genu varum, Short met...	ORPHA:221016
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,...	ORPHA:570
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Congenital hip dislocation, Absent...	OMIM:268400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Brachydactyly, Short neck, Drumstick terminal phalanges	OMIM:612938
Johanson-Blizzard Syndrome	Alopecia, Hypoplasia of penis, Hypospadias, Abnormal hair pattern, Abnormal vagina morphology, Ab...	ORPHA:2315
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Pyoderma gangrenosum	OMIM:616576
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Cryptorchidism, Short foot, Large hands, Talipes equinovarus, Cubitus ...	OMIM:300534
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Hand polydactyly, Downslanted palpebral fissures, Broad thumb, Ptosis	OMIM:239710
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi...	ORPHA:90793
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Metaphyseal chondrodysplasia, Renal cyst, Horseshoe kidn...	OMIM:250410
Congenital Myopathy 17	Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Renal hypoplasia, Hand clenc...	OMIM:618975
Myhre Syndrome	Abnormal penis morphology, Brachydactyly, Hypospadias, External genital hypoplasia, Precocious pu...	ORPHA:2588
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom...	ORPHA:163979
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia	OMIM:247100
Free Sialic Acid Storage Disease	Nephrotic syndrome, Abnormality of the upper limb, Skin ulcer, Proteinuria	ORPHA:834
Short Syndrome	Alopecia, Inguinal hernia, Excessive wrinkled skin, Short palm, Sparse hair, Brachydactyly	ORPHA:3163
Postaxial Acrofacial Dysostosis	Finger syndactyly, Hypoplasia of the ulna, Camptodactyly of finger, Ectropion of lower eyelids, H...	ORPHA:246
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi...	ORPHA:818
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia	OMIM:615704
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Hip dislocation	OMIM:613156
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Mesomelia, Camptodactyly, Prominent fingertip pads, Clinodactyly, Broad...	OMIM:618529
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, Short n...	OMIM:122470
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Abnormal eyelid morphology, Small hand, Thin eyebrow, Spina ...	ORPHA:1787
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Adrenoleukodystrophy	Alopecia, Urinary incontinence, Impotence, Hypogonadism, Urinary bladder sphincter dysfunction	OMIM:300100
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Ambiguous genitalia, Male pseudohermaphroditism, Primary amenorrhea	OMIM:202110
X-Linked Intellectual Disability Due To Gria3 Mutations	Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Hydronephrosis	ORPHA:364028
Basal Cell Nevus Syndrome 1	Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Irregular...	OMIM:109400
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Hypospadias, Single transverse palmar crease, Rocker bottom foot, Re...	OMIM:214100
Gracile Bone Dysplasia	Slender long bone, Micropenis, Flared metaphysis, Brachydactyly	OMIM:602361
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal dysplasia, Small cervical vertebral bodies, Renal insufficiency, Abnormal acetabulum morpho...	ORPHA:397715
Seckel Syndrome 9	Recurrent urinary tract infections, Agonadism, Talipes equinovarus, Ambiguous genitalia, Clitoral...	OMIM:616777
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Stage 5 chronic kidney disease, Short clavicles, Osteolytic defects of th...	OMIM:608612
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Finger clinodactyly, Short palm, Renal neoplasm, ...	ORPHA:79474
Penile Agenesis	Urethral atresia, male, Hydroureter, Maternal diabetes, Cryptorchidism, Fetal pyelectasis, Bilate...	ORPHA:49
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Genu valgum, Cli...	OMIM:620072
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Neurogenic bladder, Low back pain, Hypospadias, Ur...	ORPHA:573278
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch...	OMIM:614099
Microcephaly-Capillary Malformation Syndrome	Vesicoureteral reflux, Clinodactyly, Brachydactyly, Short distal phalanx of finger	OMIM:614261
Beta-Thalassemia	Hypogonadotropic hypogonadism, Pallor, Skin ulcer	ORPHA:848
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:79394
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine hair, Hyperkeratosis, Coar...	OMIM:308300
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma	OMIM:613576
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Flexion contracture of finger, Pigmentary retinopathy, C...	ORPHA:88628
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypogonadism	ORPHA:3143
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Abnormality of the cervi...	OMIM:154400
Familial Multiple Lipomatosis	Coloboma, Bowing of the long bones, Chorioretinitis	ORPHA:199276
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Cutaneous syn...	OMIM:617666
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Meckel Syndrome 12	Rocker bottom foot, Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral re...	OMIM:616258
Cln3 Disease	Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Flynn-Aird Syndrome	Alopecia, Skin ulcer	ORPHA:2047
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Menorrhagia	OMIM:617443
22Q11.2 Duplication Syndrome	Urethral stenosis, Aplasia/Hypoplasia of the thymus, Scoliosis, Displacement of the urethral meat...	ORPHA:1727
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Long fingers, Cryptorchidism, Finger joint hypermobility, Ureteropelvi...	OMIM:617557
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Precocious puberty, Coxa vara, Narrow pelvis bone, Abnormal epiphysis morphology, Sco...	ORPHA:2637
Hyperphosphatasia-Intellectual Disability Syndrome	Supernumerary nipple, Short neck, Shortening of all distal phalanges of the fingers, Hip dysplasi...	ORPHA:247262
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Highly arched eyebrow, Supernumerary nippl...	ORPHA:261494
3Mc Syndrome 1	Sacral dimple, Single interphalangeal crease of fifth finger, Supernumerary nipple, Short foot, R...	OMIM:257920
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Rhizomelia, Ulnar deviation of the wrist, Annular p...	OMIM:618162
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphology, Genu valgu...	ORPHA:101000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral...	OMIM:614080
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Mottled pigmentation of photoexposed areas, Ptosis	OMIM:560000
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, Scoliosis...	OMIM:601353
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Kbg Syndrome	Telecanthus, Single transverse palmar crease, Synophrys, Cutaneous syndactyly, Finger clinodactyl...	ORPHA:2332
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Nephrotic syndrome,...	OMIM:615559
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Toe syndactyly, Hydroureter, Single transverse palmar crease, Proximal placement of thumb, Limite...	OMIM:610759
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Aplasia of the epiglottis, Clinodactyly of the 5th finger, Short tib...	OMIM:268305
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,...	ORPHA:90794
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Epicanthus, Abnormality of the hand, Upslanted palpebral fissure, Horizontal eyebrow,...	ORPHA:369891
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Bilateral single transverse palmar creases	ORPHA:50812
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb...	ORPHA:989
Isolated Agammaglobulinemia	Skin ulcer, Clinodactyly of the 5th toe	ORPHA:229717
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Scoliosis, Brachydactyly	OMIM:619995
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Finger syndactyly, Iris coloboma, Ptosis	ORPHA:66629
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaphroditism, Peri...	OMIM:201810
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Single transverse palmar crease, Tapered finger, Sparse eyebrow, Cryptorchidism,...	ORPHA:444072
Buerger Disease	Skin ulcer	ORPHA:36258
Dracunculiasis	Skin ulcer	ORPHA:231
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Hypospadias, External genital hypoplasia, Aplastic ...	ORPHA:2658
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Cryptorchidism, Genu valgum, Frontal upsweep of hair, Micropenis, Hydronephrosis	OMIM:617798
Pycnodysostosis	Decreased serum insulin-like growth factor 1, Rhizomelia, Decreased response to growth hormone st...	ORPHA:763
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Short neck...	ORPHA:2308
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o...	OMIM:615789
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Kleefstra Syndrome 1	Hypospadias, Single transverse palmar crease, Cryptorchidism, Abnormal renal morphology, Talipes ...	OMIM:610253
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi...	ORPHA:107
Orofaciodigital Syndrome I	Syndactyly, Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Myelomeningocele, Ovarian cyst, Sh...	OMIM:311200
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty...	OMIM:270400
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Primary adrenal insufficiency, Epiphys...	ORPHA:912
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Cubitus valgus, Kyphoscoliosis, Brachydactyly	OMIM:620237
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Hyperextensibility of the finger joints, Slow-growing hair, Absent ey...	OMIM:115150
Mandibuloacral Dysplasia	Alopecia, Short clavicles, Osteolytic defects of the distal phalanges of the hand, Thin skin, Spa...	ORPHA:2457
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Premature ovarian insufficiency, Female hypogonadism, Nephrocalcinosis, Nail dystrophy,...	OMIM:240300
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Sparse eyelashes, Sandal gap, Highly arched eyebrow, Camptodactyl...	ORPHA:178303
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Penoscrotal hypospadias, Hypospadias, Renal salt wasting, Female external genitalia in individual...	ORPHA:90791
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Single transverse palmar crease, Urinary incontinence, Clinodactyly of the 5t...	OMIM:619522
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1806
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hypermelanotic macule, Hydrocephalus, Optic atrophy, Hand poly...	ORPHA:60040
46,Xx Sex Reversal 5	Ambiguous genitalia, Urogenital sinus anomaly	OMIM:618901
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyl...	OMIM:107480
Alg9-Cdg	Omphalocele, Hypoplasia of the bladder, Ulnar deviation of the hand, Rhizomelia, Ureteral hypopla...	ORPHA:79328
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Kyphoscoliosis, Oligosacchariduria, Talipes equinovarus, Camptoda...	ORPHA:397709
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Delayed epiphyseal ossifica...	OMIM:277440
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Brachydactyly	OMIM:618381
Temtamy Syndrome	Short 2nd toe, Hip dislocation, Talipes equinovarus, Brachydactyly	OMIM:218340
Pontocerebellar Hypoplasia, Type 7	Single transverse palmar crease, Cryptorchidism, Synophrys, Ambiguous genitalia, Micropenis, Hirs...	OMIM:614969
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:79444
Rhombencephalosynapsis	Finger syndactyly, Abnormal renal morphology, Polydactyly, Abnormality of the uterus, Complete du...	ORPHA:59315
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Microphthalmia, Syndromic 5	Coloboma, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Upslanted palpebral fissure, Narrow palpebral fissure, Clinodactyly, Syndactyly	OMIM:618087
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cryptorchidism, Scoliosi...	OMIM:618143
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc...	OMIM:601707
Pagod Syndrome	Omphalocele, Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia,...	ORPHA:991
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypothyroidism, Broad thumb, Broad distal phalanx of finger, Brachydactyly	OMIM:617763
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Finger clinodactyly, Scoliosis, Hypopituitarism, D...	ORPHA:391474
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Frontal balding, Precocious puberty, Oligozoospermia, Oligomeno...	ORPHA:786
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Hajdu-Cheney Syndrome	Inguinal hernia, Coarse metaphyseal trabecularization, Abnormal fingernail morphology, Hypospadia...	ORPHA:955
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Low anterior hair...	OMIM:180849
Oculodentodigital Dysplasia	Finger syndactyly, Neurogenic bladder, Toe syndactyly, Camptodactyly of finger, Short hallux, Apl...	ORPHA:2710
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypo...	OMIM:603671
Centrifugal Lipodystrophy	Alopecia, Erythema, Scaling skin	ORPHA:90156
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Ectopic kidney, Prominent interphalangeal joints, Prom...	OMIM:135900
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Palmoplantar keratoderma, Retinopathy	ORPHA:578
Genitopatellar Syndrome	Hip contracture, Clitoral hypertrophy, Congenital hip dislocation, Small scrotum, Enlarged labia ...	OMIM:606170
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
17Q12 Microduplication Syndrome	Finger syndactyly, Synophrys, Toe syndactyly	ORPHA:261272
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Short neck, Dec...	ORPHA:870
Orthostatic Hypotension 1	Retrograde ejaculation, Nocturia, Reduced circulating prolactin concentration, Brachydactyly	OMIM:223360
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Scolios...	OMIM:618460
Thauvin-Robinet-Faivre Syndrome	Epicanthus, Bowing of the legs, Coloboma, Large hands, Retinal coloboma, Long palpebral fissure, ...	OMIM:617107
Occipital Horn Syndrome	Short humerus, Redundant skin, Pelvic bone exostoses, Hiatus hernia, Coxa valga, Capitate-hamate ...	OMIM:304150
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Proportionate shortening of all digits, Tapered finger, Short neck, Small hand, Hype...	ORPHA:280633
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm...	ORPHA:3194
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Hypospadias, Overlapping toe, Highly arched eyebrow, Proximal placement of thumb...	ORPHA:487796
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Scapular winging, Distichiasis	OMIM:600462
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Ectopic kidney, Absent radius, Preaxial hand polydactyly, Short ...	ORPHA:233
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy, Broad palm	OMIM:268020
Nicolaides-Baraitser Syndrome	Dry hair, Single transverse palmar crease, Low anterior hairline, Short metatarsal, Prominent int...	OMIM:601358
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Diabetes mellitus, Hydronephrosis, Drumstick terminal phalanges	ORPHA:541423
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Epicanthus, Abnormality of retinal pigmentation, Abnormal nasolacrimal system...	ORPHA:2526
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Ridged fing...	ORPHA:37
Infantile Systemic Hyalinosis	Camptodactyly of finger, Micromelia, Short neck, Polycystic ovaries, Short palm, Brachydactyly	ORPHA:2176
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula...	ORPHA:1493
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Joubert Syndrome 17	Preaxial polydactyly, Abnormal retinal morphology, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Clubbing, Clubbing of fingers, Nail dystrophy, Nail dysplasia	OMIM:175500
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Brachydactyly	OMIM:614526
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Optic atrophy, Clinodactyly of the 5th finger, Downslanted...	ORPHA:3255
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Camptodactyly of toe, Pterygium, Dislocated radial head, Syndactyly, Arach...	OMIM:265000
Keutel Syndrome	Alopecia, Short distal phalanx of finger	ORPHA:85202
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Dry skin	OMIM:610768
Distal Deletion 19P	Long toe, Alopecia, Vaginal hernia, Arachnodactyly, Umbilical hernia, Thick eyebrow	ORPHA:96129
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of...	OMIM:610682
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Cystic Fibrosis	Absent vas deferens, Nephrolithiasis	ORPHA:586
Thakker-Donnai Syndrome	Short neck, Hemivertebrae, Rectovaginal fistula, Cervical C2/C3 vertebral fusion, Hydronephrosis	ORPHA:1780
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Alopecia, Renal insufficiency, Proteinuria, Nai...	ORPHA:90291
Congenital Disorder Of Glycosylation, Type Iie	Neurogenic bladder, Low anterior hairline, Hypertrichosis, Excessive wrinkled skin, Overlapping f...	OMIM:608779
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Upslanted palpebral fissure, ...	OMIM:300963
Alstrom Syndrome	Alopecia, Renal insufficiency, Hypergonadotropic hypogonadism, Abnormality of the hand, Irregular...	OMIM:203800
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Skin ulcer, Hematuria, Petechiae, Purpura	ORPHA:91138
Ane Syndrome	Alopecia, Ulnar deviation of the hand, Hypogonadotropic hypogonadism	ORPHA:157954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Optic nerve hypoplasia, Meningoence...	OMIM:236670
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Hypospadias, Short long bone, Scoliosis, Short palm, Brachydactyly	OMIM:619184
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Skin vesicle, Alopecia, Hypoplastic fingernail	ORPHA:257
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Aplasia/Hypop...	ORPHA:2909
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Horseshoe kidney, Aplasia of...	OMIM:617088
Monosomy 9P	Hypospadias, Thin nail, Highly arched eyebrow, Proximal placement of thumb, Abnormality of the ta...	ORPHA:261112
You-Hoover-Fong Syndrome	Clinodactyly, Kyphoscoliosis, Brachydactyly	OMIM:616954
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Alkuraya-Kucinskas Syndrome	Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Upslanted palpebral fissure, Talipes equino...	OMIM:617822
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Encephalocele, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Cryptorch...	ORPHA:2166
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Autoamputation of digits, Distal upper limb muscle weakness, Skin ulcer	OMIM:613640
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Trichoepithelioma, Cylindroma, Skin ulcer	ORPHA:79493
Fraser Syndrome	Omphalocele, Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Toe syndactyly, ...	ORPHA:2052
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Abnor...	ORPHA:79404
X-Linked Lissencephaly With Abnormal Genitalia	Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis	ORPHA:452
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence, Skin ulcer	ORPHA:206583
Ring Chromosome 13 Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the thumb, Alopecia, Hypospadias, Partial absence of foot, A...	ORPHA:96176
Neu-Laxova Syndrome	External genital hypoplasia, Micromelia, Spina bifida, Abnormal eyelash morphology, Abnormal hair...	ORPHA:2671
Microphthalmia, Syndromic 9	Renal malrotation, Inguinal hernia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasi...	OMIM:601186
Phakomatosis Pigmentokeratotica	Coloboma, Spina bifida, Hemiatrophy, Melanocytic nevus	ORPHA:2874
Fgfr2-Related Bent Bone Dysplasia	Clitoral hypertrophy, Hypoplastic ischia, Bowing of the legs, Short clavicles, Steep acetabular r...	ORPHA:313855
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodactyly of the 5th ...	ORPHA:397590
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelv...	ORPHA:93271
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Mogs-Cdg	Alopecia, External genital hypoplasia, Hydrocele testis, Long eyelashes, Overlapping fingers, Fai...	ORPHA:79330
7Q11.23 Microduplication Syndrome	Sacral dimple, Hypospadias, Single transverse palmar crease, Unilateral renal agenesis, Short nec...	ORPHA:96121
Degcags Syndrome	Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Pallor, ...	OMIM:619488
Lesch-Nyhan Syndrome	Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy	OMIM:300322
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of the 2nd finger, Kyphosis, Hip di...	OMIM:119600
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Small hand, Optic a...	ORPHA:50
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Epicanthus, Optic atrophy, Multiple cafe-au-lait spots, Upslanted palpebral fissure, ...	OMIM:616975
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Palmoplantar keratoderma, Fragile nails	OMIM:242150
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Delayed epiphyseal ossification, Preaxia...	OMIM:210710
Cri-Du-Chat Syndrome	Syndactyly, Epicanthus, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, S...	OMIM:123450
Prolidase Deficiency	Hyperimidodipeptiduria, Skin ulcer, Low posterior hairline, Facial hirsutism, Petechiae	OMIM:170100
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Alopecia, Pelvic kidney, Hydronephrosis	OMIM:613001
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Broad palm, Spinal canal stenosis, Scoliosis, Broad phalanges of the hand, ...	OMIM:277600
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Occipital Horn Syndrome	Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Aplastic clavic...	ORPHA:198
Cantú Syndrome	Finger syndactyly, Epicanthus, Broad hallux phalanx, Curly eyelashes, Short hallux, Coxa valga, L...	ORPHA:1517
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Aplasia of the vag...	ORPHA:457284
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Sacral dimple, Short proximal phalanx of the 2nd finger...	ORPHA:261323
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Epicanthus, Finger syndactyly, Brachydactyly, Holoprosencephaly,...	ORPHA:1587
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c...	OMIM:257300
Schinzel-Giedion Syndrome	Inguinal hernia, Streak ovary, Hypospadias, Overlapping toe, Nephroblastoma, Hypoplastic pubic bo...	ORPHA:798
Raine Syndrome	Bowing of the long bones, Hydroureter, Micromelia, Short neck, Long hallux, Hydronephrosis, Brach...	OMIM:259775
Neuromuscular Oculoauditory Syndrome	Epicanthus, Chorioretinal lacunae, Retinal pigment epithelial mottling, Talipes equinovarus, Wris...	OMIM:618733
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Single transverse palmar crease, Limited elbow mo...	OMIM:261540
Woodhouse-Sakati Syndrome	Alopecia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypog...	OMIM:241080
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Renal insufficiency, Oliguria, Skin ulcer, Narrow foramen obturatorium	ORPHA:220393
Hamamy Syndrome	Long toe, Syndactyly, Telecanthus, Sparse eyelashes, Down-sloping shoulders, Tapered finger, Spar...	OMIM:611174
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypogonadotropic hypogonadism, Decreased testicular size	ORPHA:453533
Malakoplakia	Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,...	ORPHA:556
Reticular Dysgenesis	Skin ulcer	ORPHA:33355
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Epicanthus, Telecanthus, Hypermelanotic macule, Broad palm, Clinodactyly of the 5th f...	OMIM:618505
Polyarteritis Nodosa	Erythema, Abnormality of the kidney, Skin ulcer	ORPHA:767
Mucoepithelial Dysplasia, Hereditary	Alopecia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Spar...	OMIM:158310
Silver-Russell Syndrome 1	Syndactyly, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger, Cafe-au-lait ...	OMIM:180860
Ehlers-Danlos Syndrome, Classic-Like	Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou...	OMIM:606408
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Myhre Syndrome	Vertebral fusion, Overlapping toe, Short neck, Cryptorchidism, Short toe, 2-3 toe syndactyly, Con...	OMIM:139210
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:79443
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal eyelid morphology, H...	ORPHA:636
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Fetal pyelectasis, Ca...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Decreased response to growth hormone stimulation test, Fetal pyelectasis, Ca...	ORPHA:363958
Myoectodermal Gonadal Dysgenesis Syndrome	Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx of the thumb, Br...	OMIM:618419
X Small Rings	Epicanthus, Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous...	ORPHA:96201
Radio-Tartaglia Syndrome	Precocious puberty, Brachydactyly, Scoliosis, Tapered finger	OMIM:619312
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Sparse eyelashes	OMIM:616367
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Inguinal hernia, Renal hypoplasia, Hydronephrosis	OMIM:613735
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal bladder morphology, Cryptorchidism, Hip dysplasia, Vertebral segmentation defect, Scolio...	ORPHA:453499
Marbach-Schaaf Neurodevelopmental Syndrome	Enuresis nocturna, Brachydactyly, Tapered finger	OMIM:619680
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Autoamputation of digits, Paronychia, Osteolytic defects of the phalanges of the hand, Foot acroo...	OMIM:201300
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Striae distensae, Irregular menstruation, Nephrolithi...	ORPHA:189427
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Dry skin	OMIM:618282
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Hydrocephalus, Optic atrophy, Retinal dysplasia	OMIM:613154
Kbg Syndrome	Syndactyly, Telecanthus, Single transverse palmar crease, Synophrys, Ulnar deviation of the 2nd f...	OMIM:148050
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urinary tract, Short neck, Sc...	ORPHA:2995
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Ambiguous genitalia, female, Webbed neck, A...	OMIM:249000
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Ptosis, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of c...	ORPHA:1323
Xeroderma Pigmentosum	Alopecia, Cryptorchidism, Erythema, Hyperkeratosis, Aminoaciduria, Hypogonadism, Thin skin, Dry s...	ORPHA:910
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Broad palm, Elbow flexion contracture, ...	OMIM:608328
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
X-Linked Agammaglobulinemia	Alopecia, Skin ulcer	ORPHA:47
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Aplasia of the bladder, ...	ORPHA:158684
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Brachydactyly	OMIM:618027
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Chops Syndrome	Cryptorchidism, Horseshoe kidney, Vesicoureteral reflux, Cervical C2/C3 vertebral fusion, Brachyd...	OMIM:616368
Leprosy	Absent eyebrow, Alopecia, Autoamputation of digits, Testicular mass, Loss of eyelashes, Penetrati...	ORPHA:548
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnor...	OMIM:271665
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Down-sloping shoulders, Coxa valga, Elbow flexion contracture, Short...	OMIM:248370
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Epicanthus, Iris hypopigmentation, Camptodactyly of finger, Abnormal metacarpa...	ORPHA:284160
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Highly arched eyebrow, Long fingers, Synophrys, Cutaneous syndactyly, ...	OMIM:618316
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Palpebral edema, Single transverse palmar crease, Metatarsus adductus, Brushfield spo...	OMIM:614866
Turner Syndrome Due To Structural X Chromosome Anomalies	Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Sh...	ORPHA:99413
Mosaic Monosomy X	Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Sh...	ORPHA:99228
Monosomy X	Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Sh...	ORPHA:99226
Turner Syndrome	Ectopic kidney, Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Sh...	ORPHA:881
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Craniosynostosis 2	Triphalangeal thumb, Brachydactyly	OMIM:604757
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Premature ovarian insufficiency, Hypopl...	ORPHA:3464
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Abnormal epiphysis morphology, Abnor...	ORPHA:35687
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Epicanthus, Telecanthus, Camptodactyly of finger, Multiple pterygia, Abnormal ...	ORPHA:2990
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Symphalangism affecting the phalanges of the hand,...	ORPHA:1292
Proteus Syndrome	Central heterochromia, Abnormal finger morphology, Abnormality of skin pigmentation, Chorioretina...	ORPHA:744
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Hydrocephalus, Optic atrophy, Deep ...	ORPHA:505248
Prader-Willi Syndrome Due To Translocation	Overlapping toe, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:177907
Okamoto Syndrome	Omphalocele, Redundant neck skin, Urinary incontinence, Bifid uterus, Extension of hair growth on...	ORPHA:2729
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd...	ORPHA:79403
Bohring-Opitz Syndrome	Syndactyly, Epicanthus, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/...	OMIM:605039
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Hypospadias,...	OMIM:312870
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Elevated circulating thyroid-stimulating hormone concentration, Palmoplantar hyper...	OMIM:601812
Igg4-Related Aortitis	Low back pain, Hydronephrosis	ORPHA:449400
Kearns-Sayre Syndrome	Pigmentary retinopathy, Ptosis	OMIM:530000
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Small ha...	ORPHA:2108
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Short neck, Renal hyp...	OMIM:614083
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Hydronephrosis	OMIM:620327
Doors Syndrome	Low anterior hairline, Abnormal finger morphology, Nephrocalcinosis, Absent fingernail, Triphalan...	ORPHA:79500
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ...	ORPHA:465508
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum, Elbow flexion contracture	OMIM:604416
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Wiedemann-Rautenstrauch Syndrome	Genu varum, Long toe, Absent eyebrow, Alopecia, Hypospadias, Absent eyelashes, Cryptorchidism, Sp...	OMIM:264090
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism	ORPHA:1237
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Bifid uterus, Abnormal reproductive system morphology, Unilateral brachydactyly, Apla...	ORPHA:1521
Roberts-Sc Phocomelia Syndrome	Tetraphocomelia, Coloboma, Eyelid coloboma, Shallow orbits, Phocomelia, Wrist flexion contracture...	OMIM:268300
Opitz Gbbb Syndrome	Bifid scrotum, Omphalocele, Enlarged ovaries, Inguinal hernia, Hypospadias, Cryptorchidism, Widow...	ORPHA:2745
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Epicanthus, Overlapping toe, Single transverse palmar crease, Tapered finger, Shor...	OMIM:619148
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Hypospadias, Kyphoscoliosis, Ectopic kidney, Cryptorchidism, Kyphosis, ...	ORPHA:3063
Aceruloplasminemia	Blepharospasm, Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Rhizomelia, Hypospadias, Micr...	ORPHA:709
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra...	OMIM:263750
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly	OMIM:616028
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Renal hypoplasia, Nephrocalcinosis, Aminoacidur...	OMIM:617913
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Hypospadias, Arachn...	OMIM:201750
Opitz-Kaveggia Syndrome	Syndactyly, Epicanthus, Broad hallux, Single transverse palmar crease, Hydrocephalus, Split hand,...	OMIM:305450
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ovotestis, Sex reversal	OMIM:611812
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Alg8-Cdg	Brachydactyly, Talipes equinovarus, Camptodactyly	ORPHA:79325
Hydrolethalus Syndrome 1	Omphalocele, Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Du...	OMIM:236680
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Sparse or absent eyelashes, Toe cl...	ORPHA:217346
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Coxa...	OMIM:614976
Anterior Segment Dysgenesis 2	Aniridia, Coloboma	OMIM:610256
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Short neck, Brachydactyly	OMIM:620156
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ...	ORPHA:3097
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Epicanthus, Sandal gap, Retinal pigment epithelial mottling, 2-3 toe...	OMIM:251260
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Cryptorchid...	ORPHA:1606
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Short long bone, Small pituitary gland...	OMIM:619479
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve...	OMIM:608800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Overlapping toe, Arachnodactyly, Single transverse palmar crease, Biliary hyperplasia, Contractur...	ORPHA:83617
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Pediatric Systemic Lupus Erythematosus	Dark urine, Alopecia, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormalit...	ORPHA:93552
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Abnormal tibia morphology, Hemivert...	ORPHA:138
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Single transverse palmar crease, Cryptorchidism, Urachus fist...	OMIM:612541
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis, Scoliosis	OMIM:619179
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer	ORPHA:217390
Gapo Syndrome	Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ...	OMIM:230740
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Postaxial polydactyly, Coloboma, Hip dysplasia, Branchial anomaly, Abnorm...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Postaxial polydactyly, Coloboma, Hip dysplasia, Branchial anomaly, Abnorm...	ORPHA:352665
Bohring-Opitz Syndrome	Retinal atrophy, Ulnar deviation of the wrist, Synophrys, Bilateral wrist flexion contracture, Op...	ORPHA:97297
Adnp Syndrome	Recurrent urinary tract infections, Broad hallux, Single transverse palmar crease, Sandal gap, Ur...	ORPHA:404448
Arboleda-Tham Syndrome	Brachydactyly, Recurrent urinary tract infections, Sandal gap, Deviation of the hallux, Highly ar...	OMIM:616268
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Beta-Thalassemia Intermedia	Proximal tubulopathy, Hypogonadism, Pallor, Skin ulcer	ORPHA:231222
Oculocerebrorenal Syndrome Of Lowe	Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Cryptorchidism, Skin ulcer, ...	ORPHA:534
Desmosterolosis	Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Metatarsus adductus, Ambiguous genitalia	ORPHA:35107
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy, Ptosis	ORPHA:436271
White-Kernohan Syndrome	Hydroureter, Synophrys, Broad medial eyebrow, Horseshoe kidney, Hip dysplasia, Rectovaginal fistu...	OMIM:619426
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Anoperin...	ORPHA:158668
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Abnormal palmar dermatoglyphics, Nail dystrophy, Decreased testicular...	OMIM:620040
Charge Syndrome	Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, External ...	OMIM:214800
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Familial Multiple Nevi Flammei	Abnormality of the upper limb, Skin ulcer	ORPHA:624
Stromme Syndrome	Bilateral renal hypoplasia, Preaxial polydactyly, Hydronephrosis	OMIM:243605
Autosomal Dominant Hyper-Ige Syndrome	Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails	ORPHA:2314
19P13.12 Microdeletion Syndrome	Finger syndactyly, Epicanthus, Toe clinodactyly, Sandal gap, Synophrys, Deep palmar crease, Short...	ORPHA:254346
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Limited elbow movement, Sparse eyebrow, Nail dystr...	OMIM:614008
Cutis Laxa, Autosomal Recessive, Type Ic	Inguinal hernia, Sandal gap, Single transverse palmar crease, Redundant skin, Cutis laxa, Multipl...	OMIM:613177
Papa Syndrome	Proteinuria, Skin ulcer	ORPHA:69126
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Congenital hip dislocation, Coxa valga, Lagophthalmos...	ORPHA:404454
Prader-Willi Syndrome	Syndactyly, Hypopigmentation of hair, Almond-shaped palpebral fissure, Acromicria, Small hand, Na...	OMIM:176270
Cat Eye Syndrome	Renal agenesis, Absent radius, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis	OMIM:115470
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:620107
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Single transverse palmar crease, Tapered finger, Camptodactyly	ORPHA:435938
Kabuki Syndrome 2	Hip dislocation, Horseshoe kidney, Short 5th finger, Prominent fingertip pads, Brachydactyly	OMIM:300867
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Takayasu Arteritis	Skin ulcer	ORPHA:3287
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Female pseudohermaphroditism, Ectopic kidney, Cryptorchidism, Short toe, Shawl...	ORPHA:1519
Neu-Laxova Syndrome 2	Ablepharon, Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida	OMIM:616038
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Hypercalciuria, Dry skin, Nephrocalcinosis, Hypermagnes...	ORPHA:428
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse p...	OMIM:181270
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypospadias, Supernumerary nipple, Tapered finger, Short thumb, Cryptorchidism, Chordee, Clinodac...	ORPHA:477993
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Wiedemann-Rautenstrauch Syndrome	Synophrys, Wide penis, Vesicoureteral reflux, Sparse hair, Dilatation of renal calices, Long toe,...	ORPHA:3455
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus...	ORPHA:2215
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Arachnodactyly, Optic atrophy, Genu valgum	ORPHA:394
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, E...	ORPHA:2211
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Epicanthus, Toe syndactyly, Bilateral single transverse palmar creases, Optic ...	ORPHA:264200
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot...	ORPHA:2008
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Ptosis	OMIM:220110
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria	ORPHA:79242
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal curvature of the vertebral column, Vesicoureteral reflux, Abnormality of the cervical sp...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal curvature of the vertebral column, Vesicoureteral reflux, Abnormality of the cervical sp...	ORPHA:353277
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Abnormal nasolacrimal system morphology, Chorioretinal dyspl...	ORPHA:2556
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
White-Sutton Syndrome	Duplicated collecting system, Short neck, Hypoplastic cervical vertebrae, Broad thumb, Brachydactyly	OMIM:616364
Frontonasal Dysplasia 2	Encephalocele, Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine...	OMIM:613451
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Hypoplastic scapulae, Sa...	ORPHA:3310
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra...	ORPHA:958
Acute Radiation Syndrome	Hyperkeratosis, Scaling skin, Skin ulcer	ORPHA:454831
Leigh Syndrome	Alopecia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfun...	ORPHA:506
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Crossed fused renal ectopia, Congenital hip dislocation, Prem...	OMIM:147920
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr...	ORPHA:93932
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Nail dystrophy, Nail dysplasia, Mitten deformity	OMIM:226600
Aprosencephaly Syndrome	Hand oligodactyly	OMIM:207770
Maternal Phenylketonuria	Bifid distal phalanx of the thumb, Abnormal renal morphology, Clinodactyly, Bladder exstrophy, Br...	ORPHA:2209
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly, Hydrocephalus	ORPHA:2169
Giant Cell Arteritis	Hematuria, Renal insufficiency, Alopecia, Skin ulcer	ORPHA:397
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal muscle weakness in upper limbs, Flexion contracture of finger, Abnormality of retinal pi...	ORPHA:466768
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Acantholysis, Abnormality of the urethra, Erythema, Skin ulcer, Abn...	ORPHA:537
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:168558
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Tapered finger, Narrow palm, Congenital hypothyroidism, Hand clenching, Urete...	OMIM:616973
Calciphylaxis	Stage 5 chronic kidney disease, Skin ulcer	ORPHA:280062
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Op...	ORPHA:87
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Urinary incontinence	OMIM:600142
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ...	ORPHA:201
Microscopic Polyangiitis	Glomerulopathy, Renal insufficiency, Erythema, Oliguria, Skin ulcer, Hematuria	ORPHA:727
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:289548
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Jacobsen Syndrome	Hypospadias, Short neck, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, Clinodactyly of ...	OMIM:147791
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Vesicoureteral reflux, Horseshoe kidney, Cone-shaped epiphysis, Short foot, Ps...	OMIM:157800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad eyebrow, Palpebral edema, Single transverse palmar crease, Synophrys, Hydrocephalus, Tapere...	OMIM:619475
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion	ORPHA:169154
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Single transverse palmar crease, Ovotestis, Hypoplasia of the uterus, Chordee, Micro...	OMIM:309801
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Renal dysplasia, Sacral dimple, Congenital hip dislocation, Overlapping toe, Thora...	ORPHA:480880
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Absent ...	OMIM:618050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Scaling skin, Patchy alopecia, Psoriasiform dermatitis, Alopecia universalis	OMIM:606367
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Short foot, Shawl scrotum, Clinodactyly of the 5th fin...	ORPHA:1974
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Fractures of the long bones, Optic atrophy, Pigmentary retinopathy, Retin...	ORPHA:157850
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Broad hallux, Hypospadias, Avascular necrosis of the capital ...	ORPHA:353281
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Syndactyly, Single transverse palmar crease, Clinodactyly of the...	OMIM:223370
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Abnormal vertebral morphology, Hydronephrosis	ORPHA:210122
Sclerosteosis 1	Syndactyly, Papilledema, 2-3 finger syndactyly, Optic atrophy, Deviation of finger, Abnormal pelv...	OMIM:269500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Hydrocephalus, Optic atrophy, Coloboma, Hypoplasia of the retina, Retinal dyspla...	OMIM:253280
Exstrophy-Epispadias Complex	Bifid scrotum, Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnor...	ORPHA:322
Mucopolysaccharidosis Type 3	Avascular necrosis of the capital femoral epiphysis, Synophrys, Hydrocephalus, Optic atrophy, Gen...	ORPHA:581
Constricting Bands, Congenital	Encephalocele, Syndactyly, Eyelid coloboma, Hand polydactyly, Talipes equinovarus	OMIM:217100
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Decreased testicular size, Small scrotum, Hypospadias, Kyphoscoliosis, Tapered finger, Short neck...	OMIM:309580
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Macular coloboma, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pi...	ORPHA:79282
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Retinal dystrophy, Single transverse palmar...	OMIM:607932
Abetalipoproteinemia	Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, Talipes equinovarus, Rod-cone dy...	ORPHA:14
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Equinus calcaneus	ORPHA:746
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis	OMIM:615577
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma...	ORPHA:449395
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Erythema, Skin ulcer, Hematuria, Purpura	ORPHA:761
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Myelopathy, Skin ulcer, Nephrotic syndrome, Hypertrophy o...	ORPHA:90307
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Cinca Syndrome	Brachydactyly	ORPHA:1451
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Hypospadias, Tapered finger, Cryptorchidism, Small hand, Micropenis, Short foot,...	OMIM:309590
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Down Syndrome	Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Hypothyroidism, Atlantoaxial...	OMIM:190685
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Fanconi Anemia	Abnormal eyelid morphology, Abnormal femur morphology, Abnormality of skin pigmentation, Triphala...	ORPHA:84
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Purpura, Striae distensae, Secondary amenorr...	ORPHA:96253
Microform Holoprosencephaly	Ambiguous genitalia, Hypoplasia of penis, Renal agenesis	ORPHA:280200
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Orofaciodigital Syndrome Type 2	Finger syndactyly, Telecanthus, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Post...	ORPHA:2751
Cockayne Syndrome A	Hip contracture, Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Ivory epiph...	OMIM:216400
Mixed Connective Tissue Disease	Nephropathy, Alopecia, Purpura	ORPHA:809
Renpenning Syndrome 1	Epicanthus, Telecanthus, Upslanted palpebral fissure, Coloboma, Synostosis of the proximal phalan...	OMIM:309500
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Renal hypoplasia, Genu valgum, Hypoplasia of the ovary, Micropenis, Decreased testicula...	OMIM:619321
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Skin ulcer, Hematuria, Prost...	ORPHA:900
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Single transverse palmar crease, Dilatation of renal calices, Short palm, Prominent fingertip pad...	ORPHA:466950
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Hypospadias, Sparse eyelashes, Phimosis, Cryptorchidism, Ureth...	OMIM:305000
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Arachnodactyly, Hiatus hernia, Cryptorchidism, Nephrotic syndrome, Talipes equinovarus, Umbilical...	OMIM:601776
Pyoderma Gangrenosum	Skin vesicle, Skin ulcer	ORPHA:48104
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Abnormal form of the vertebral bodies, Vertebral fusion, Pseudoe...	OMIM:194190
Gabriele-De Vries Syndrome	Hallux valgus, Sydney crease, Decreased response to growth hormone stimulation test, Sandal gap, ...	ORPHA:506358
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Bifid uterus, ...	OMIM:256520
Behcet Syndrome	Genital ulcers, Erythema, Epididymitis, Patchy alopecia, Decreased level of D-mannose in urine	OMIM:109650
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Alopecia, Organic aciduria, 3-hydroxyisovaleric a...	OMIM:253270
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis	OMIM:304790
Holoprosencephaly	Hypoplasia of penis, Diabetes mellitus, Proteinuria, Short neck, Cryptorchidism, Panhypopituitari...	ORPHA:2162
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Small nail, I...	OMIM:100300
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, Enlarged kidney, Ap...	OMIM:618280
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal mo...	ORPHA:580
Dominant Beta-Thalassemia	Bowing of the long bones, Pallor, Skin ulcer, Genu valgum	ORPHA:231226
Cockayne Syndrome Type 1	Pigmentary retinopathy, Optic atrophy, Conjunctivitis, Hypermelanotic macule	ORPHA:90321
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Vaginal neoplasm, Abnormality of the upper limb, Clinodactyly of th...	ORPHA:1052
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Renal cyst, Camptodac...	OMIM:601803
Sotos Syndrome	Ureteral duplication, Vesicoureteral reflux, Abnormal vertebral morphology, Hypothyroidism, Hypos...	ORPHA:821
Monosomy 22Q13.3	Renal dysplasia, Sacral dimple, Vesicoureteral reflux, Large hands, Clinodactyly of the 5th finge...	ORPHA:48652
Noonan Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Radioulnar synostosis, Scoliosis, Clinodactyly of ...	ORPHA:648
Mgat2-Cdg	Abnormality of the endocrine system, Kyphosis, Hypoplastic nipples, Scoliosis, Brachydactyly	ORPHA:79329
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Xeroderma Pigmentosum, Complementation Group B	Freckling, Optic atrophy, Pigmentary retinopathy	OMIM:610651
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous ...	OMIM:620029
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Hand oligodactyly, Congenital fibro...	ORPHA:45358
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Talipes equinovarus, ...	ORPHA:1512
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology	ORPHA:3453
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor...	ORPHA:3472
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Cerebrofacioarticular Syndrome	Syndactyly, Epicanthus, Talipes equinovarus, Camptodactyly, Blepharophimosis, Caudal appendage	ORPHA:314679
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Autoamputation of digits, Nail dystrophy, Nail dysplasia, Acral ulceration	OMIM:256800
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Single transverse palmar crease, Scoliosis, Clinodactyly of the 5th finger, Brachyd...	OMIM:617062
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Erythema, Palmoplantar keratoderma, Nail dystrophy, Onychogryposis	ORPHA:79396
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Clinodactyly of ...	OMIM:227330
Juvenile Dermatomyositis	Alopecia, Dry skin, Erythema, Skin ulcer	ORPHA:93672
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Insulin-Resistance Syndrome Type B	Alopecia, Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Polycystic ovaries, Glycosu...	ORPHA:2298
Celiac Disease, Susceptibility To, 1	Alopecia, Infertility	OMIM:212750
Cranioectodermal Dysplasia 2	Syndactyly, Renal insufficiency, Rhizomelia, Short neck, Postaxial hand polydactyly, Renal cyst, ...	OMIM:613610
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho...	ORPHA:217085
Hartsfield Syndrome	Syndactyly, Epicanthus, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectrodactyly, Semiloba...	OMIM:615465
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Bilateral camptodactyly, Elbow flexion contracture, Small hand, ...	OMIM:619777
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Optic...	ORPHA:191
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Lacrimal duct stenosis, Aplasia/Hypoplasia o...	OMIM:151050
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Red urine, Joint contracture of the hand, Pink urine...	OMIM:263700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Hypospadias, Decreased response to growth hormone stimulation test...	ORPHA:444077
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Camptodactyly of finger, Meningocele, Umbilical hernia, Spina bifida occulta	ORPHA:2311
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Camptodactyly of finger, Abnormal foveal morpho...	ORPHA:217093
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Lacrimoauriculodentodigital Syndrome 1	Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis, Triphalangeal thumb, Cl...	OMIM:149730
Meige Disease	Cobblestone-like hyperkeratosis, Skin ulcer	ORPHA:90186
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Recurrent urinary tract infections, Sacral dimple, Short neck, Short metatarsal...	OMIM:617157
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Papillary renal cell carcinoma, Spar...	ORPHA:363618
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Toriello-Carey Syndrome	Cryptorchidism, Clinodactyly, Short neck, Brachydactyly	ORPHA:3338
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Ketonuria, Hyperglycinuria, Organic aciduria	OMIM:210210
Fraser Syndrome 3	Hydrocephalus, Short toe, Cryptophthalmos, Cutaneous syndactyly	OMIM:617667
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Scapular winging, Ptosis	OMIM:607459
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum	OMIM:150550
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Kyphosis, Renal ...	ORPHA:90324
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Psoriasiform dermatitis, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous n...	ORPHA:37042
Barber-Say Syndrome	Absent nipple, Cryptorchidism, Hypoplastic labia minora, Hypoplastic labia majora, Talipes equino...	OMIM:209885
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Ring Chromosome 12 Syndrome	Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb	ORPHA:1439
Congenital Disorder Of Glycosylation, Type It	Decreased serum insulin-like growth factor 1, Hydronephrosis, Delayed puberty	OMIM:614921
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Renal hypoplasia/aplasia, Hyperlordosis, Abnormal tibia morphology, Abnormal rena...	ORPHA:363700
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Ambiguous genitalia, Clitoral hypertrophy	ORPHA:543470
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Pelvic kidney, Short palm, Dilatation of renal calices, Brachyda...	ORPHA:466943
Beta-Thalassemia Major	Bowing of the long bones, Pallor, Skin ulcer, Genu valgum	ORPHA:231214
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Elsahy-Waters Syndrome	Bifid scrotum, Hypospadias, Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cut...	OMIM:211380
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Umbilical hernia	OMIM:614520
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pigmentary retinopathy, Hydrocephalus	OMIM:277400
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Male urethral...	OMIM:613406
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Cockayne Syndrome B	Optic atrophy, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Pi...	OMIM:133540
Acquired Purpura Fulminans	Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly	ORPHA:508542
Pgm3-Cdg	Membranoproliferative glomerulonephritis, Skin ulcer, Brachydactyly	ORPHA:443811
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed peni...	ORPHA:261537
Knobloch Syndrome 1	Duplicated collecting system, Occipital encephalocele, Spina bifida occulta, Bifid ureter, Horizo...	OMIM:267750
Noonan Syndrome 1	Male infertility, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Hypogonadism, Radial d...	OMIM:163950
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Alopecia totalis, Nail dystrophy, Abnormality of the periungua...	ORPHA:293978
Meester-Loeys Syndrome	Arachnodactyly, Cervical spine instability, Broad distal phalanx of finger, Camptodactyly, Brachy...	OMIM:300989
Monosomy 22	Finger syndactyly, Epicanthus, Single transverse palmar crease, Synophrys, Clubbing, Narrow palpe...	ORPHA:96123
Hereditary Cryohydrocytosis With Reduced Stomatin	Short neck, Brachydactyly	ORPHA:168577
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Sandal gap, Short neck, Long fingers, Cutaneous syndactyly, Toe clinodactyly, Hydr...	OMIM:620330
Microphthalmia, Syndromic 3	Coloboma, Optic nerve hypoplasia, Optic nerve aplasia	OMIM:206900
Esophageal Atresia	Coloboma, Clinodactyly	ORPHA:1199
Lathosterolosis	Toe syndactyly, Postaxial hand polydactyly, Myelomeningocele, Horseshoe kidney, Postaxial foot po...	OMIM:607330
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Absent lacrimal punctum, Finger syndactyly, Generalized hyperpigmentation, Sparse eyelashes, Spar...	ORPHA:1071
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed peni...	ORPHA:2152
Catastrophic Antiphospholipid Syndrome	Abnormality of the kidney, Skin ulcer	ORPHA:464343
Reynolds Syndrome	Skin ulcer	ORPHA:779
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Localized Scleroderma	Abnormal skin adnexa morphology, Abnormality of the kidney, Erythema, Upper limb asymmetry, Patch...	ORPHA:90289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Multicystic kidney dysplasia, Anencephaly, Hydronephrosis, Micropenis, D...	OMIM:615287
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Bosma Arhinia Microphthalmia Syndrome	Coloboma, Synophrys, Lacrimal duct atresia	OMIM:603457
Chronic Graft Versus Host Disease	Alopecia, Phimosis, Urinary bladder inflammation, Erythema, Skin ulcer, Hematuria, Onycholysis, N...	ORPHA:99921
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Br...	ORPHA:364577
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Autoimmune Polyendocrinopathy Type 4	Tubulointerstitial nephritis, Alopecia, Hypergonadotropic hypogonadism	ORPHA:227990
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Large placenta, Short femoral neck, Cli...	ORPHA:1708
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails	OMIM:245660
Biotinidase Deficiency	Myelopathy, Alopecia, Organic aciduria	ORPHA:79241
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed peni...	ORPHA:261552
Steinert Myotonic Dystrophy	Endometrial carcinoma, Alopecia, Hypergonadotropic hypogonadism, Early balding, Decreased fertili...	ORPHA:273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnormality of the anter...	ORPHA:438213
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki...	ORPHA:91139
Hardikar Syndrome	Hypoplasia of the bladder, Decreased serum insulin-like growth factor 1, Renal insufficiency, Rec...	OMIM:301068
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Trichiasis, Acantholysis, Moderate albuminuria, Renal tubular...	ORPHA:95455
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Shoulder girdle muscle weakness	ORPHA:98907
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Epicanthus, Upslanted palpebral fissure, Holoprosencephaly, Epicanthus inversus, Shor...	OMIM:618820
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Female hypogonadism, Alopecia totalis, Coxa valga, Limited wrist movement, Loss o...	ORPHA:740
Autoimmune Polyendocrinopathy Type 3	Tubulointerstitial nephritis, Alopecia, Hypergonadotropic hypogonadism	ORPHA:227982
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Retinal degeneration, Hyper...	OMIM:234200
Livedoid Vasculopathy	Ecchymosis, Skin ulcer, Macular purpura	ORPHA:542643
Biotinidase Deficiency	Alopecia, Organic aciduria	OMIM:253260
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Pilonidal sinus, Parathyroid agenesis, Decreased circulatin...	OMIM:188400
Relapsing Polychondritis	Glomerulopathy, Alopecia, Renal insufficiency, Proteinuria, Erythema, Hematuria, Purpura	ORPHA:728
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum	ORPHA:486
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma	OMIM:618183
Melas	Pigmentary retinopathy, Optic atrophy, Vitiligo	ORPHA:550
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer	ORPHA:86884
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Bicornuate u...	OMIM:265380
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma...	OMIM:612474
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ...	OMIM:610168
Colchicine Poisoning	Renal insufficiency, Alopecia, Oliguria	ORPHA:31824
Vascular Ehlers-Danlos Syndrome	Alopecia, Inguinal hernia, Hypospadias, Congenital hip dislocation, Redundant skin, Abnormality o...	ORPHA:286
Desmosterolosis	Rhizomelia, Ambiguous genitalia, female, Ambiguous genitalia, male, Bilateral talipes equinovarus...	OMIM:602398
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Sparse scalp hair, Purpura, Striae distensae, Secondary amenorr...	ORPHA:99889
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Hand muscle weakness, Areflexia of upper limbs, Penetrat...	ORPHA:99956
Cystinosis, Nephropathic	Hypopigmentation of hair, Retinal pigment epithelial mottling, Metaphyseal widening, Genu valgum,...	OMIM:219800
Trichotillomania	Alopecia	OMIM:613229
Alagille Syndrome 1	Hypoplasia of the ulna, Chorioretinal atrophy, Upslanted palpebral fissure, Pigmentary retinopath...	OMIM:118450
Hereditary Spherocytosis	Pallor, Skin ulcer	ORPHA:822
Liver Disease, Severe Congenital	Inguinal hernia, Dry hair, Hypospadias, Recurrent urinary tract infections, Hydrocele testis, Ami...	OMIM:619991
Holoprosencephaly 3	Central diabetes insipidus, Hydronephrosis	OMIM:142945
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Multiple ca...	ORPHA:1556
Fusariosis	Paronychia, Abnormality of the kidney, Skin ulcer	ORPHA:228119
Wiskott-Aldrich Syndrome	Glomerulopathy, Abnormality of the menstrual cycle, Skin ulcer, Nephropathy, Petechiae, Purpura	ORPHA:906
Viss Syndrome	Long toe, Sparse scalp hair, Alopecia, Inguinal hernia, Arachnodactyly, Rocker bottom foot, Hip d...	OMIM:619472
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot...	ORPHA:293987
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal external genitalia, Camptodactyly of finger, Hypospadias, Ectopic kidney, Metatarsus add...	OMIM:607872
Johanson-Blizzard Syndrome	Sparse scalp hair, Hypospadias, Single transverse palmar crease, Urethrovaginal fistula, Septate ...	OMIM:243800
Bloom Syndrome	Syndactyly, Spotty hypopigmentation, Hand polydactyly, Clinodactyly of the 5th finger, Cafe-au-la...	OMIM:210900
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum	OMIM:608068
Neurocardiofaciodigital Syndrome	Optic disc pallor, Syndactyly, Sparse eyebrow, Narrow palpebral fissure, Polydactyly	OMIM:619869
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Nephrolithiasis, Renal tubular acidosis, Secondary hyperparathyr...	ORPHA:2785
Coffin-Siris Syndrome 12	Epicanthus, Highly arched eyebrow, Hip subluxation, Short thumb, Synophrys, Slender finger, Nonco...	OMIM:619325
Primary Sjögren Syndrome	Renal insufficiency, Abnormality of the kidney, Glomerulonephritis, Skin ulcer, Dry skin, Tubuloi...	ORPHA:289390
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Syndactyly, Renal insufficiency, Anterior pituitary hypoplasia, Postaxial polydactyly...	OMIM:619534
Ayme-Gripp Syndrome	Radioulnar synostosis, Brachydactyly, Camptodactyly, Tapered finger	OMIM:601088
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly	ORPHA:306542
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly ...	OMIM:620025
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly	OMIM:616430
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper...	OMIM:216340
Omenn Syndrome	Alopecia	OMIM:603554
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Scoliosis, Uterine rupture	ORPHA:60030
Bloom Syndrome	Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Sparse eye...	ORPHA:125
Chronic Granulomatous Disease	Skin ulcer	ORPHA:379
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration, Urinary incontinence	OMIM:608654
Blau Syndrome	Clear cell renal cell carcinoma, Camptodactyly of finger, Erythema, Stage 5 chronic kidney diseas...	ORPHA:90340
Blau Syndrome	Flexion contracture of toe, Camptodactyly of finger, Skin ulcer	OMIM:186580
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Dermatomyositis	Abnormal hair quantity, Erythema, Skin ulcer, Dry skin, Abnormality of the nail	ORPHA:221
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Azoospermia, Ecchymosis, Skin ulcer	ORPHA:2072
Ileal Neuroendocrine Tumor	Small intestine carcinoid, Hydronephrosis, Increased serum serotonin	ORPHA:100078
Pearson Syndrome	Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin, Ptosis	ORPHA:699
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Renal artery aneurysm, Skin ulcer, Purpura	OMIM:615688
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis	OMIM:618775
Sweet Syndrome	Skin vesicle, Pyoderma gangrenosum, Abnormality of the hand	ORPHA:3243
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormality of skin pigmentation, Palmoplantar kerato...	ORPHA:2908
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ...	OMIM:130050
Amoebiasis Due To Free-Living Amoebae	Intrarenal abscess, Skin ulcer	ORPHA:68
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Infantile Nephropathic Cystinosis	Pigmentary retinopathy	ORPHA:411629
Fontaine Progeroid Syndrome	Syndactyly, Aplastic/hypoplastic lacrimal glands, Synophrys, Hydrocephalus, Deep palmar crease, A...	OMIM:612289
Sympathetic Ophthalmia	Alopecia, Erythema, Poliosis	ORPHA:79098
Systemic Lupus Erythematosus	Alopecia, Proteinuria, Lupus nephritis, Pyuria, Hematuria	ORPHA:536
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Granulomatosis With Polyangiitis	Skin ulcer	OMIM:608710
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Microphthalmia, Syndromic 1	Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Optic disc coloboma, Ciliary...	OMIM:309800
African Trypanosomiasis	Alopecia, Renal insufficiency, Urinary incontinence, Abnormality of the menstrual cycle, Myelopat...	ORPHA:3385
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Sarcoidosis	Alopecia, Renal insufficiency, Abnormal reproductive system morphology, Nephrolithiasis, Hypercal...	ORPHA:797
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Proximal Renal Tubular Acidosis	Coloboma	ORPHA:47159
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Inguinal hernia, Hydroureter, Hydronephrosis	OMIM:212093
Leukocyte Adhesion Deficiency, Type I	Skin ulcer	OMIM:116920
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Scapular winging, Short metacarpal, Single transverse palmar crease, Coxa valga, Avas...	OMIM:150230
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Preaxial hand polydactyly, Postaxial hand...	ORPHA:2753
Hennekam Syndrome	Finger syndactyly, Epicanthus, Camptodactyly of finger	ORPHA:2136
Kikuchi-Fujimoto Disease	Alopecia, Erythema	ORPHA:50918
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Autoamputation of digits, Acral ulceration	OMIM:256810
Plague	Dry skin, Abnormality of the elbow, Skin ulcer	ORPHA:707
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy	OMIM:606721
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndrome, Pyoderma gangr...	ORPHA:2968
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Norrie Disease	Cryptorchidism, Scoliosis, Uterine rupture	ORPHA:649

Histopathology

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

There is no histopathology data for Porcn

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 Porcn.

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

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MGI Allele	Allele Type	Produced
Porcn^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Porcn^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

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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