Not currently registered for phenotyping at IMPC

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

Gene Summary

transformation related protein 63
p51/p63,  p63,  Trp53rp1,  KET protein,  TAp63,  p73L,  deltaNp63

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Trp63 mutations

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

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

The table below shows human diseases associated to Trp63 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Split hand, Absent hand, Finger syndactyly ORPHA:2440
Limb-Mammary Syndrome
Oligodactyly, Bifid uvula, Hypoplastic nipples, Lacrimal duct atresia, Cleft hard palate, Absent ... ORPHA:69085
Limb-Mammary Syndrome
Camptodactyly, Hallux valgus, Bifid uvula, Syndactyly, Cleft palate, Hypodontia, Joint contractur... OMIM:603543
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the clitoris, Inguinal hernia, Abnormality of ... ORPHA:93930
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Selective tooth agenesis, Hydroureter, Hypoplastic nipples, Cleft palate, Toe syndactyly, Sparse ... OMIM:604292
Rapp-Hodgkin Syndrome
Bifid uvula, Onychogryposis, Cleft palate, Narrow mouth, Slow-growing hair, Sparse eyebrow, Cario... OMIM:129400
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... ORPHA:199306
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Anonychia, Selective tooth agenesis, Lacrimal duct atresia, Widely spaced teeth, Cleft palate, Ab... OMIM:106260
Adult Syndrome
Toenail dysplasia, Abnormality of the dentition, Nail pits, Breast hypoplasia, Hypoplastic nipple... ORPHA:978
Eec Syndrome
Tooth agenesis, Proximal placement of thumb, Taurodontia, Xerostomia, Microdontia, Ectrodactyly, ... ORPHA:1896
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Non-midline cleft lip, Hypodontia, Velopharyngeal insufficiency... ORPHA:199302
Adult Syndrome
Oligodontia, Nail pits, Wide intermamillary distance, Breast hypoplasia, Sparse axillary hair, Hy... OMIM:103285
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Non-midline cleft lip, Cleft palate ORPHA:1072
Cleft Lip And Alveolus
Abnormal nasal septum morphology, Abnormal nasal morphology ORPHA:141291

The table below shows human diseases predicted to be associated to Trp63 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Postaxial hand polydactyly, Split hand, Split foot OMIM:225290
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Triphalangeal Thumbs With Brachyectrodactyly
Split foot, Short 3rd toe, Short 2nd finger, Triphalangeal thumb, Split hand, Brachydactyly OMIM:190680
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot OMIM:183500
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormal finger morphology, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Ring Chromosome 4 Syndrome
Abnormal morphology of ulna, Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the... ORPHA:1447
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... ORPHA:1892
Tetramelic Monodactyly
Hand monodactyly, Foot monodactyly, Split hand, Split foot OMIM:187510
Split-Hand/Foot Malformation 6
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hand oligodactyly, Split hand, Split foot OMIM:225300
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 4-5 toe syndactyly, 1-2 toe syndactyly, Split hand, Split foot OMIM:616890
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna, Split hand ORPHA:1118
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Lichen Amyloidosis
Pruritus ORPHA:49804
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Facial erythema, Palmoplantar erythema, Erythematous pla... ORPHA:64745
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... OMIM:183600
Cleft palate OMIM:119550
Brachydactyly, Type A1, D
Short distal phalanx of the 2nd finger, Short distal phalanx of the thumb, Aplasia/Hypoplasia of ... OMIM:616849
Aplasia of metacarpal bones, Split hand OMIM:106900
Melanoma-Pancreatic Cancer Syndrome
Melanoma, Pancreatic squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Pancreatic a... OMIM:606719
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A... ORPHA:488232
Darier Disease
Acrokeratosis, Plantar pits, Hypermelanotic macule, Subungual hyperkeratotic fragments, Anal muco... ORPHA:218
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split hand, Split foot OMIM:183700
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Symphalangism affecting the proximal phal... OMIM:272150
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Tooth malposition, Tooth agenesis, Abnormality of dental morphology, Alopecia, ... ORPHA:2722
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Aplasia/Hypoplasia of the fibula, Brachydactyly, Fibular aplasia, Short phalanx of finger, Split ... OMIM:113310
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split foot, Split hand, Tapered finger OMIM:220600
Pemphigus Foliaceus
Erythema, Erythematous plaque, Skin erosion, Scaling skin, Pruritus, Serpiginous cutaneous lesion... ORPHA:79481
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Verrucae, Basal cell carcinoma OMIM:618267
Cooks Syndrome
Broad thumb, Triphalangeal thumb, Split hand, Brachydactyly ORPHA:1487
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... ORPHA:2019
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Irregular dentition, Agenesis of permanent teeth, Dystrophic fingernails, Abnormality of dental m... OMIM:602401
Epidermolysis Bullosa, Junctional 4, Intermediate
Dystrophic fingernails, Dental enamel pits, Scarring alopecia of scalp, Carious teeth, Nail dystr... OMIM:619787
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split hand, Split foot DECIPHER:46
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Postaxial foot polydactyly, Short distal phalanx of finger, Abnormal met... ORPHA:1113
Lichen Planus Pemphigoides
Pruritus, Abnormal oral mucosa morphology, Hyperkeratosis, Skin vesicle ORPHA:254478
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Hand monodactyly, Split hand, Split foot OMIM:183800
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phala... OMIM:112700
Syndactyly Type 1
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Brachydactyly, Type A1, C
Short middle phalanx of the 4th finger, Short distal phalanx of finger, Bilateral talipes equinov... OMIM:615072
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Short middle phalanx of finger, Osteoarthritis of the small joint... ORPHA:85169
Hypodontia-Dysplasia Of Nails Syndrome
Conical tooth, Thin toenail, Abnormality of the dentition, Agenesis of permanent teeth, Fine hair... ORPHA:2228
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis ORPHA:2841
Nut Midline Carcinoma
Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... ORPHA:443167
Parc Syndrome
Alopecia, Cleft palate, Absent eyelashes, Absent eyebrow, Microretrognathia OMIM:600331
Pemphigoid Gestationis
Pruritus, Skin vesicle ORPHA:63275
Fatco Syndrome
Absent hand, Abnormality of fibula morphology, Finger syndactyly, Abnormality of tibia morphology... ORPHA:2492
Dowling-Degos Disease
Acne inversa, Palmar pits, Hyperkeratotic papule, Anal margin squamous cell carcinoma, Hypopigmen... ORPHA:79145
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Delayed epiphyseal ossification, Short middle phalanx of fi... OMIM:182255
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short middle phalanx of finger, Brachytelomesophalangy, Short dis... OMIM:606835
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Enamel hypoplasia, Fragile nails, Oral mucosal blisters, Hypodontia, Carious tee... OMIM:226650
Candidiasis, Familial, 1
Premature loss of teeth, Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Brachydactyly Type A2
Type A2 brachydactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle p... ORPHA:93396
Bartsocas-Papas Syndrome 1
Oligodactyly, Anonychia, Inguinal hernia, Short thumb, Ambiguous genitalia, Ablepharon, Upslanted... OMIM:263650
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Abnormality of the humerus, Absent hand, Camptodactyly of finger,... ORPHA:3138
Brachydactyly, Type A1, B
Short distal phalanx of finger, Type A brachydactyly, Broad distal hallux, Short middle phalanx o... OMIM:607004
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, 2-4 finger sy... OMIM:225280
Iga Pemphigus
Skin plaque, Skin erosion, Ulcerative colitis, Oral mucosal blisters, Pruritus, Annular cutaneous... ORPHA:555905
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Florid Cemento-Osseous Dysplasia
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... ORPHA:83451
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Trichothiodystrophy 9, Nonphotosensitive
Tiger tail banding, High, narrow palate, Dental malocclusion, Sparse eyebrow, Nail dystrophy, Spa... OMIM:619692
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand OMIM:228250
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Peutz-Jeghers Syndrome
Multiple renal cysts, Abnormal pigmentation of the oral mucosa, Macule, Abdominal pain, Cervix ca... ORPHA:2869
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Milia, Hyperkeratotic papule, Localized skin lesion, Skin erosion, Enamel hypoplasia, Oral mucosa... ORPHA:79410
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Abdominal pain, Anal canal squamous cell carcinoma... ORPHA:424019
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Split hand, Absent hand, Finger syndactyly ORPHA:2440
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Parakeratosis, Oral mucosal blisters, Pruritus, Skin vesicle, Palmoplantar hype... ORPHA:158681
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Lacrimoauriculodentodigital Syndrome
Short thumb, Bifid uvula, Absent lacrimal punctum, Keratoconjunctivitis sicca, Toe syndactyly, Ca... ORPHA:2363
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Large joint dislocations, Flattened epiphysis, Irregular epiphyses, Metaphyseal irregularity, Sma... OMIM:603546
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Syndactyly Type 5
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... ORPHA:93406
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma OMIM:609265
Moebius Syndrome
Absent hand, Tooth agenesis, Epicanthus, Cleft palate, Aplasia/Hypoplasia involving the metacarpa... ORPHA:570
Epidermolysis Bullosa, Junctional 5A, Intermediate
Absent axillary hair, Onychogryposis, Onycholysis of distal fingernails, Premature loss of perman... OMIM:619816
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle, Skin rash ORPHA:90000
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Recurrent loss of toenails and fingernails, Dystrophic fingernails, Dystrophic toenail, Oral muco... ORPHA:231568
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis, Papule OMIM:244850
Anonychia-Microcephaly Syndrome
Anonychia, Aplastic/hypoplastic toenail, Carious teeth, Abnormality of the dentition ORPHA:1094
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Onychogryposis of fingernail, Onychogryposis, Dystrophic fingernails, Dystrophic toenail, Fragile... ORPHA:158676
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Aplasia of metacarpal bones... OMIM:610797
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Polysyndactyly of hallux, Short tibia, Cleft palate, Preaxial foot polydact... ORPHA:2751
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of t... ORPHA:971
Hypertension And Brachydactyly Syndrome
Type E brachydactyly, Short phalanx of finger, Short metacarpal, Cone-shaped epiphysis OMIM:112410
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Acrocallosal Syndrome
Epicanthus, Inguinal hernia, Bifid uvula, Cleft palate, Preaxial foot polydactyly, Toe syndactyly... OMIM:200990
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Tooth agenesis, Mandibular prognathia, Abnormal dental enamel morphology, Alop... ORPHA:2325
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Abnormality of the dentition, Uncombable hair, Supernumerary tooth, Sparse hair ORPHA:1264
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Distal foot symphalangism, Absent trapeziu... OMIM:606895
Treacher-Collins Syndrome
Tooth agenesis, Eyelid coloboma, Cleft palate, Absent eyelashes, Narrow mouth, Rectovaginal fistu... ORPHA:861
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Oligodontia, Inguinal hernia, Selective tooth agenesis, Hypoplastic nipples, Hydroureter, Cleft p... OMIM:129900
Brachydactyly, Type A1
Broad metacarpal epiphyses, Short distal phalanx of finger, Radial deviation of the 4th finger, R... OMIM:112500
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Absent... OMIM:119100
Holt-Oram Syndrome
Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Absent radius... OMIM:142900
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia universalis, Cleft lip, Brittle hair, Alopecia, Absent eyelashes, Clef... ORPHA:2890
Short distal phalanx of finger, Radial metaphyseal irregularity, Osteoarthritis, Irregular epiphy... OMIM:177170
Phocomelia, Schinzel Type
Cleft palate, Micromelia, Fibular aplasia, Radial bowing, Hypoplasia of the radius, Aplasia of th... ORPHA:2879
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Finger... OMIM:612576
Hypoglossia-Hypodactyly Syndrome
Anal atresia, Aplasia/Hypoplasia of the tongue, High palate, Short distal phalanx of finger, Hypo... ORPHA:989
Dermatitis Herpetiformis
Erythema, Malabsorption, Macule, Pruritus, Skin vesicle, Eczema ORPHA:1656
Lichen Planopilaris
Abnormal intestine morphology, Onycholysis, Hypopigmented skin patches, Dermal atrophy, Alopecia,... ORPHA:525
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, Elbow ankylosis, Aplasia/Hypoplasia of metatarsal bon... OMIM:276820
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse axillary hair, Abnormality of the nail, Absent eyebrow, Onychogryposis of toenails, Nail d... ORPHA:1808
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Ivic Syndrome
Short thumb, Carpal synostosis, Short 1st metacarpal, Triphalangeal thumb, Hypoplasia of the radi... OMIM:147750
Cloacal Exstrophy
Hip dislocation, Horseshoe kidney, Hydroureter, Ureteropelvic junction obstruction, Intestinal du... ORPHA:93929
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Pruritus, Sparse pubic hair, Sparse scalp hair ORPHA:505
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Nail dystrophy OMIM:616487
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Thick eyebrow, Delayed eruption of teeth, Gingival overgrowth, Gene... ORPHA:2222
Limb-Mammary Syndrome
Oligodactyly, Bifid uvula, Hypoplastic nipples, Lacrimal duct atresia, Cleft hard palate, Absent ... ORPHA:69085
Acrofacial Dysostosis, Weyers Type
Conical tooth, Toenail dysplasia, Abnormality of the dentition, Nail dystrophy, Abnormal toenail ... ORPHA:952
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dysplasia, Concave nail, Absent eyelashes, Nail dystrophy, Sparse hair, Atrichia OMIM:614931
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Sparse axillary hair, Dystrophic fingernails, Dental enamel pits, Dyst... ORPHA:251393
Charlie M Syndrome
Tooth agenesis, Finger syndactyly, Abnormal metacarpal morphology, Narrow mouth, Non-midline clef... ORPHA:1406
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Enamel hypoplasia, Oral mucosal blisters, Scarring alopecia of scalp... ORPHA:79402
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Acne inversa, Hypoplastic sweat glands, Trichorrhexis nodosa, Cleft palate, Sparse lateral eyebro... OMIM:617337
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Bloody mucoid diarrhea, Hematochezia, Chronic constipation, Tenesmus, Anal... ORPHA:209964
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Basal cell carcinoma ORPHA:409
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Dumbbell-shaped femur, Irregular, rachitic-like metaphyses, Flat ac... OMIM:184252
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Acrofacial Dysostosis 1, Nager Type
Absent lower eyelashes, Hip dislocation, Cleft palate, Toe syndactyly, Short toe, Hypoplasia of t... OMIM:154400
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Horseshoe kidney, Cleft palate, Patellar dislocation, Carpal synost... OMIM:274000
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Synophrys, Gingival fibromatosis, Thick eyebrow, Delayed eruption o... ORPHA:2026
Classic Mycosis Fungoides
Erythema, Skin plaque, Skin rash, Hypopigmented skin patches, Dry skin, Abnormality of the nail, ... ORPHA:2584
Spondylometaphyseal Dysplasia, Kozlowski Type
Short distal phalanx of finger, Short greater sciatic notch, Absent epiphyses of the phalanges of... ORPHA:93314
Regional Odontodysplasia
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... ORPHA:83450
Prenatal Bowing
Bowing of the long bones OMIM:264050
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... ORPHA:93320
Split-Hand/Foot Malformation 3
High palate, Nail dysplasia, Ridged nail, Cleft palate, Narrow mouth, Microretrognathia, Nail dys... OMIM:246560
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Anterior vertebral fusion, Absent radius, Genu varum,... OMIM:171480
Cdags Syndrome
Anal atresia, Coronal craniosynostosis, Rectourethral fistula, Sparse eyelashes, Malar flattening... OMIM:603116
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Conical tooth, Selective tooth agenesis, Small nail, Absent toenail, Absent thumbnail, Nail dystr... OMIM:124480
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Ulnar-Mammary Syndrome
Inguinal hernia, Hypoplastic nipples, Short 5th finger, Inverted nipples, Hypoplasia of the radiu... OMIM:181450
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Dermal translucency, Inguinal hernia, Redundant skin, Gingival bleeding, Thick vermilion border, ... OMIM:225410
Branchioskeletogenital Syndrome
Bifid uvula, Highly arched eyebrow, Thin vermilion border, Carious teeth, Premature loss of teeth... ORPHA:1299
Pili Torti
Abnormality of the dentition, Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair,... ORPHA:2889
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Bladder neoplasm, Neoplasm of the rectum, Seborrheic keratosis, Colon cancer, Meningioma, Breast ... ORPHA:454840
Brachycephaly, Trichomegaly, And Developmental Delay
Open mouth, Long eyelashes, High palate, Bifid uvula, Synophrys, Brittle hair, Submucous cleft ha... OMIM:617412
Epidermolysis Bullosa, Junctional 1B, Severe
Nail dysplasia, Pyloric stenosis, Death in infancy, Enamel hypoplasia, Carious teeth, Nail dystrophy OMIM:226700
Craniosynostosis, Adelaide Type
Hallux valgus, Carpal bone malsegmentation, Shortening of all distal phalanges of the fingers, Sh... OMIM:600593
Cutis laxa, Premature skin wrinkling ORPHA:228240
Schopf-Schulz-Passarge Syndrome
Poroma, Sparse body hair, Ridged nail, Onycholysis, Small nail, Thin nail, Hypodontia, Apocrine h... OMIM:224750
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Meningitis, Skin rash, M... ORPHA:229717
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly, Neonatal death, Hydrops fetalis OMIM:276822
Lacrimoauriculodentodigital Syndrome 1
Short thumb, Absent lacrimal punctum, Absent proximal phalanx of thumb, Carious teeth, Coronal hy... OMIM:149730
Zimmermann-Laband Syndrome
Macroglossia, High palate, Long eyelashes, Facial hypertrichosis, Bifid uvula, Generalized hypert... ORPHA:3473
Alopecia Areata 1
Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis OMIM:104000
Acrofacial Dysostosis, Palagonia Type
Oligodontia, Unilateral cleft lip, Malar flattening, Low anterior hairline, High, narrow palate, ... ORPHA:1787
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia OMIM:188150
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Hip dislocation, Horseshoe kidney, Patellar dislocation, Cleft palate,... ORPHA:3320
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Pruritus, Inflammation of the large intestine, Nail dystrophy ORPHA:46487
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Abnormality of the dentition, Alopecia universalis, Abnormal eyelash morphology... ORPHA:1008
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Bifid uvula, Cleft palate, Narrow mouth, Clitoral hypoplasia, Patellar a... ORPHA:2554
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Abnormality of the dentition, Onycholysis, Abnormality of dental morphol... ORPHA:69087
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Malar flattening, Short 5th finger, Apl... ORPHA:52056
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal toenail morphology, Hypoplasia of teeth, Fine hair, Abnormality of dental morphology, Al... ORPHA:248
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Meningitis, Skin rash, Malabsorption... ORPHA:47
Baller-Gerold Syndrome
Bicoronal synostosis, Oligodactyly, Epicanthus, Bifid uvula, Aplasia of metacarpal bones, Aphalan... OMIM:218600
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Exaggerated rugosity of the l... OMIM:612965
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Bartsocas-Papas Syndrome
Ambiguous genitalia, Hypoplastic toenails, Eyelid coloboma, Finger syndactyly, Synostosis of join... ORPHA:1234
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Abnormality of the dentition, Oral mucosal blisters, Nail dystrophy ORPHA:79399
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal toenail morphology, Dystrophic toenail, Abnormal fingernail morphology, Abs... ORPHA:89838
Meier-Gorlin Syndrome 7
Clubbing, Cleft palate, Narrow mouth, Aplasia/Hypoplasia of the patella, Preaxial hand polydactyl... OMIM:617063
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Thin toenail, Alopecia, Dystrophic toenail OMIM:614928
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges
High palate, Anonychia, Nail dysplasia, Nail dystrophy, Short philtrum OMIM:106995
Fanconi Anemia, Complementation Group U
Absent radius, Ectopic kidney, Unilateral facial palsy, Aplasia of the 1st metacarpal, Chromosome... OMIM:617247
Codas Syndrome
Short humerus, Anal atresia, Gastroesophageal reflux, Congenital hip dislocation, Cryptorchidism,... OMIM:600373
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Wells Syndrome
Pruritus, Skin vesicle ORPHA:901
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Alopecia, Enamel hypoplasia, Sparse eyebrow, Scarring alopecia of scalp, Carious ... OMIM:612843
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
High palate, Oligodontia, Ulnar deviation of finger, Thin long bone diaphyses, Knee flexion contr... OMIM:210730
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate
Oral mucosal blisters, Nail dystrophy OMIM:131900
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Postaxial Acrofacial Dysostosis
Conical tooth, Midgut malrotation, Cryptorchidism, Congenital hip dislocation, Micropenis, Short ... OMIM:263750
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Contracture of the proximal interphalangeal joint of the 5th finger,... ORPHA:2232
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Horseshoe kidney, Microgastri... ORPHA:2538
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Recurrent respiratory infections, Erythema, Abnormal lip morp... ORPHA:1334
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Reticular Dysgenesis
Chronic otitis media, Recurrent respiratory infections, Aplasia/Hypoplasia of the thymus, Skin ra... ORPHA:33355
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Palmoplantar keratoderma, Orthokeratotic... ORPHA:498359
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Pili torti, Onycholysis, Brittle hair, Alopecia, Temporal hypotrichosis, Absent... OMIM:602032
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Labial hypoplasia, Toe syndactyly, Single transverse palmar crease, Pelvic kidney, 3... OMIM:300707
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent viral infect... ORPHA:217390
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Pachyonychia Congenita 2
Oral leukoplakia, Nail dysplasia, Angular cheilitis, Sparse eyebrow, Dry hair, Subungual hyperker... OMIM:167210
Hereditary Mucoepithelial Dysplasia
Cataract, Recurrent respiratory infections, Abnormal morphology of female internal genitalia, Fin... ORPHA:1839
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Porokeratosis Of Mibelli
Pruritus, Aplasia/Hypoplasia of the skin, Hyperkeratosis ORPHA:735
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short toe, Small epiphyses, Short phalanx of finger, Thick lower lip vermilion, Tapered metacarpa... OMIM:611717
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Hallux valgus, Toe syndactyly, Short middle phalanx of the 5th finger, Sh... ORPHA:93409
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Epidermolysis Bullosa Simplex 1A, Generalized Severe
Oral mucosal blisters, Nail dystrophy OMIM:131760
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Absent eyelashes, Thin nail, Absent eyebrow, Nail dystrophy, Sparse hair OMIM:618625
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Abnormal hair morphology, Gingival fibromatosis, Gingi... ORPHA:2028
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... ORPHA:457395
Trichorhinophalangeal Syndrome Type 1
High palate, Abnormality of the dentition, Fragile nails, Sparse eyebrow, Leukonychia, Supernumer... ORPHA:77258
Fraser Syndrome
Ambiguous genitalia, Urethral atresia, Toe syndactyly, Vaginal atresia, Bifid tongue, Multicystic... ORPHA:2052
Teebi Hypertelorism Syndrome 2
High palate, Upper eyelid coloboma, Syndactyly, Thick eyebrow, Microdontia, Clinodactyly of the 5... OMIM:619736
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Tapered finger, Cleft palate, Glossoptosis, Pierre-Robin sequence... OMIM:311895
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Abnormality of the dentition, Tooth agenesis, Trichorrhexis nodosa, Abnor... ORPHA:238468
Duane-Radial Ray Syndrome
Short thumb, Horseshoe kidney, Aplasia of metacarpal bones, Shoulder dislocation, Hypoplasia of t... OMIM:607323
Dyggve-Melchior-Clausen Disease
Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral epiphyses,... OMIM:223800
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hip dislocation, Delayed ossification of carpal bones, Dislocated radial head, Patellar dislocati... OMIM:618395
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Malabsorption, Chronic diarrhea, Skin ulcer, Erythema, Poor appetite... ORPHA:37
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Ambiguous genitalia, Ablepharon, Absent eyelashes, Toe syndactyly, Thin ... ORPHA:920
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma ORPHA:50944
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Oral mucosal blisters, Nail dystrophy OMIM:132000
Abnormality of the ovary, Nephrolithiasis, Periodontitis, Gingival overgrowth, Gingivitis, Cervic... ORPHA:722
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair ORPHA:55654
Limb-Mammary Syndrome
Camptodactyly, Hallux valgus, Bifid uvula, Syndactyly, Cleft palate, Hypodontia, Joint contractur... OMIM:603543
Neoplasm of the rectum, Proteinuria, Inflammatory abnormality of the skin, Urinary bladder inflam... ORPHA:556
Syndactyly, Type V
Short distal phalanx of finger, Camptodactyly of finger, Absent distal interphalangeal creases, 4... OMIM:186300
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Abnormality of the dentition, Nail dysplasia, Alopecia, Oral mucosal blisters, Nail dystrophy ORPHA:79397
Bladder Exstrophy And Epispadias Complex
Inguinal hernia, Anteriorly placed anus, Horseshoe kidney, Epispadias, Hydroureter, Unilateral re... OMIM:600057
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Erythema, Papule, Skin ulcer ORPHA:2337
Alopecia Areata 2
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:610753
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Synophrys, Gingival fibromatosis, Thick eyebrow, Abnormality of dental morphology, E... ORPHA:2025
Fraser Syndrome 1
Difficulty in tongue movements, Aplasia/Hypoplasia of the phalanges of the hand, Cleft palate, Ab... OMIM:219000
Aarskog-Scott Syndrome
Camptodactyly of finger, Epicanthus, Inguinal hernia, Cleft palate, High anterior hairline, Singl... ORPHA:915
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Mandibular prognathia, Abnormality of hair texture, Dental malocclusion, Natal to... OMIM:601957
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Arthritis, Diarrhea, Nausea and vom... ORPHA:231
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Dermal translucency, Hypoplastic ilia, Hip dislocation, Hip dysplasia, Advanced ossification of c... OMIM:615349
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Melanoma, Basal cell carcinoma ORPHA:90342
Pyoderma Gangrenosum
Inflammation of the large intestine, Skin vesicle, Atrophic scars, Pustule, Papule, Skin ulcer ORPHA:48104
Oculocerebrocutaneous Syndrome
Cryptorchidism, Orbital encephalocele, Congenital hip dislocation, Eyelid coloboma, Alopecia, Cle... OMIM:164180
Alopecia Universalis Congenita
Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic hair OMIM:203655
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Conical incisor, Ridged nail, Onycholysis, Alopecia, Yellow nails, Enamel hypoplasia, Sparse late... OMIM:614564
White-Kernohan Syndrome
Epicanthus, Hip dysplasia, Horseshoe kidney, Hydroureter, Thick eyebrow, Broad medial eyebrow, Up... OMIM:619426
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Abnormal morphology of female internal genitalia, Aplasia/Hypopl... ORPHA:2141
Hypotrichosis 4
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair OMIM:146550
Oeis Complex
Duplicated colon, Hydroureter, Labial hypoplasia, 11 pairs of ribs, Pelvic kidney, Rectovaginal f... OMIM:258040
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Osteopathia striata, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Coarse metaph... ORPHA:2779
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Esophageal atresia, Hand polydactyly, Anal atresia, Absent radius, Enlarged kidney... OMIM:314390
Idiopathic Trachyonychia
Toenail dysplasia, Nail pits, Atopic dermatitis, Patchy alopecia, Ridged nail, Abnormality of the... ORPHA:79153
Vaginal Atresia
Uterus didelphys, Primary amenorrhea, Imperforate hymen, Transverse vaginal septum, Abdominal pai... ORPHA:65681
Microcephaly-Micromelia Syndrome
Craniosynostosis, Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Ne... OMIM:251230
Clouston Syndrome
Nail dysplasia, Abnormality of the dentition, Onycholysis, Absent axillary hair, Fine hair, Britt... OMIM:129500
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Postaxial hand polydactyly, Ap... ORPHA:2491
Ectodermal Dysplasia/Short Stature Syndrome
Anonychia, Enamel hypoplasia, Esophageal stricture, Dysphagia, Delayed eruption of teeth, Hypodon... OMIM:616029
Brachydactyly Type C
Ulnar deviation of finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Type C bra... ORPHA:93384
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Bowing of the long bones, Abnormal epiphysis morphology, Abnormal... ORPHA:1040
Laurin-Sandrow Syndrome
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Abnormality of the wrist, Aplas... ORPHA:2378
Ablepharon-Macrostomia Syndrome
Short upper lip, Ambiguous genitalia, Hypoplastic nipples, Ablepharon, Absent eyelashes, Toe synd... OMIM:200110
Trisomy 10P
Epicanthus, Multiple renal cysts, Abnormality of the hand, Upslanted palpebral fissure, Short pal... ORPHA:171929
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short thumb, Hallux varus, Short metatarsal, Short metacarpal, Sh... OMIM:112450
Mmep Syndrome
Median cleft lip, Triphalangeal thumb, Orofacial cleft, Split foot ORPHA:3434
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus OMIM:146750
Spondylometaphyseal Dysplasia, Algerian Type
Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Short tubu... OMIM:184253
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Eem Syndrome
Selective tooth agenesis, Widely spaced teeth, Finger syndactyly, Abnormality of dental morpholog... ORPHA:1897
Ulerythema Ophryogenesis
Hyperkeratotic papule, Miscarriage, Facial erythema, Follicular hyperkeratosis, Dry skin, Dermal ... ORPHA:3406
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Alopecia, Ridged nail, Nail dystrophy OMIM:601705
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Duplicated colon, Inguinal hernia, Renal duplication, Horseshoe kidney, Penoscrotal transposition... ORPHA:227
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Megacystis, ... OMIM:619350
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Amelogenesis imperfecta, Trichodysplasia ORPHA:79129
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Hyperkeratosis ORPHA:1659
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the clitoris, Inguinal hernia, Abnormality of ... ORPHA:93930
Seckel Syndrome 5
High palate, Cryptorchidism, Retrognathia, Oligodontia, Selective tooth agenesis, Clitoral hypert... OMIM:613823
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Nail dystrophy OMIM:131850
Barber-Say Syndrome
Telecanthus, Shawl scrotum, Hypoplastic nipples, Ectropion, Ablepharon, Breast aplasia, Sparse or... ORPHA:1231
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Selective tooth agenesis, Hydroureter, Hypoplastic nipples, Cleft palate, Toe syndactyly, Sparse ... OMIM:604292
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Triphalangeal thumb,... OMIM:135750
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, High palate, Hip dislocation, Ivory epiphyses of the toes, Flattened epiphy... OMIM:226980
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Anodontia, Bilateral cleft lip and palate, Hypoplasia of the zygoma... ORPHA:3253
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius, Neonatal death OMIM:112310
Orofaciodigital Syndrome Type 4
Abnormal joint morphology, Camptodactyly of finger, Bifid uvula, Joint dislocation, Cleft palate,... ORPHA:2753
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Rapp-Hodgkin Syndrome
Bifid uvula, Onychogryposis, Cleft palate, Narrow mouth, Slow-growing hair, Sparse eyebrow, Cario... OMIM:129400
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu varum, Metaphyseal cupping, Metaphyseal widening, Short ribs, Short long bone, Metaphyseal i... OMIM:250420
Cleft Lip/Palate
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... ORPHA:199306
De Barsy Syndrome
Inguinal hernia, Narrow mouth, Sparse hair, Coxa vara, Lipodystrophy, Cryptorchidism, Decreased m... ORPHA:2962
Xeroderma Pigmentosum, Complementation Group F
Scoliosis, Seborrheic keratosis, Keratoacanthoma, Basal cell carcinoma, Neoplasm of the skin, Squ... OMIM:278760
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, High palate, Abnormality of the dentition, Eruption failure, Epicanthu... ORPHA:476126
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Thalidomide Embryopathy
Radial club hand, Abnormality of fibula morphology, Aplasia/Hypoplasia of the thumb, Aplasia/hypo... ORPHA:3312
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Burkitt lymphoma, Colon cancer, Prostate cancer, Acute lymphoblastic le... ORPHA:158057
Chilblain Lupus 1
Chilblains, Abnormality of the nail, Raynaud phenomenon, Skin ulcer OMIM:610448
Amelo-Onycho-Hypohidrotic Syndrome
Tooth agenesis, Onycholysis, Fine hair, Abnormal dental enamel morphology, Abnormality of dental ... ORPHA:1028
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Split hand, Talipes equinovarus OMIM:607831
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, High palate, Short distal phalanx of finger, Anonychia, Eyelid coloboma,... ORPHA:1784
Heimler Syndrome 2
Beau's lines, Amelogenesis imperfecta, Leukonychia, Dental crowding OMIM:616617
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Anonychia, Selective tooth agenesis, Lacrimal duct atresia, Widely spaced teeth, Cleft palate, Ab... OMIM:106260
Leopard Syndrome 1
Hypoplasia of the ovary, Cryptorchidism, Epicanthus, Micropenis, Missing ribs, Mandibular prognat... OMIM:151100
Heart-Hand Syndrome Type 2
Abnormality of the humerus, Hand polydactyly, Abnormal palate morphology, Abnormality of the dent... ORPHA:1350
Trichorhinophalangeal Syndrome, Type Iii
Short finger, Avascular necrosis of the capital femoral epiphysis, Coxa magna, Short metatarsal, ... OMIM:190351
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology ORPHA:3196
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Ambiguous genit... ORPHA:90797
Seckel Syndrome 1
Hip dislocation, Selective tooth agenesis, Cleft palate, Single transverse palmar crease, 11 pair... OMIM:210600
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Hypotrichosis 11
Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo... OMIM:615059
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Dystrophic fingernails, Sparse scalp hair OMIM:614927
Lelis Syndrome
Absent lower eyelashes, Abnormal toenail morphology, Mandibular prognathia, Yellow nails, Sparse ... ORPHA:140936
10Q22.3Q23.3 Microdeletion Syndrome
Epicanthus, Downslanted palpebral fissures, Upslanted palpebral fissure, Breast aplasia, Curved m... ORPHA:276413
Cryoglobulinemic Vasculitis
Proteinuria, Vasculitis, Glomerulopathy, Renal insufficiency, Keratoconjunctivitis sicca, Gastroi... ORPHA:91138
Osebold-Remondini Syndrome
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Broad toe, Short tibia... OMIM:112910
Multiple Synostoses Syndrome 3
Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Humeroradial synostosis, Cubitus ... OMIM:612961
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... ORPHA:99798
Leydig Cell Hypoplasia
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... ORPHA:755
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Ambiguous genitalia, Short tibia, Incr... ORPHA:93322
Necrobiosis Lipoidica
Erythema, Inflammatory abnormality of the skin, Skin plaque, Skin nodule, Indurated nodule, Annul... ORPHA:542592
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Atopic dermatitis, Persistence of primary teeth, Recurrent skin infections, Supernum... OMIM:619752
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Abnormal eyebrow morphology, Malabsorption, Mac... ORPHA:1775
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus, Thick eyebrow,... ORPHA:572333
Alopecia Universalis
Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes ORPHA:701
Neu-Laxova Syndrome 1
Calcaneovalgus deformity, Ablepharon, Rocker bottom foot, Absent eyelashes, Cleft palate, Microme... OMIM:256520
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Recurrent infections, Alopecia, Pyoderma gangrenosum, Atrophi... OMIM:616576
Orofaciodigital Syndrome Type 5
Abnormality of the philtrum, Bifid uvula, Accessory oral frenulum, Enamel hypoplasia, High, narro... ORPHA:2919
Autosomal Dominant Hyper-Ige Syndrome
Abnormality of the dentition, Skin rash, Cleft palate, Pruritus, Delayed eruption of teeth, Skin ... ORPHA:2314
Mammary-Digital-Nail Syndrome
Anonychia, Nail dystrophy, Nail dysplasia OMIM:613689
Brachydactyly Type B
Short distal phalanx of finger, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Syno... ORPHA:93383
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Hand muscle atrophy, Split hand ORPHA:100998
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Patchy alopecia, Widely spaced teeth, Absent facial hair, Alopecia, Small nail, En... OMIM:613573
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Treacher Collins Syndrome 4
Malar flattening, Downslanted palpebral fissures, Cleft palate, Preauricular hair displacement, L... OMIM:618939
Localized Epidermolysis Bullosa Simplex
Pruritus, Erosion of oral mucosa, Oral mucosal blisters, Nail dystrophy ORPHA:79400
Odontomicronychial Dysplasia
Abnormality of the dentition, Slow-growing nails, Abnormality of the nail, Premature eruption of ... ORPHA:1811
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Sparse body hair, Abnormality of the dentition, Tooth agen... ORPHA:678
Short Stature-Wormian Bones-Dextrocardia Syndrome
Abnormality of the philtrum, Anal atresia, Camptodactyly of finger, High palate, Cryptorchidism, ... ORPHA:2863
Fanconi Anemia, Complementation Group L
Esophageal atresia, Anal atresia, Absent radius, Bilateral talipes equinovarus, Micropenis, Unila... OMIM:614083
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Tooth agenesis, Fragile nails, Gingival recession, Pruritus, Woolly hair, Leukonychia, Nail dystr... OMIM:615821
Hemifacial Atrophy, Progressive
Patchy alopecia, Short mandibular rami, Poliosis, Tongue atrophy, Dental malocclusion, Delayed er... OMIM:141300
Junctional Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Cutaneous melanoma, Basal cell carcinoma ORPHA:79405
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Cryptorchidism, Hip dislocation, Inguinal hernia, Pyloric stenosis, Fine hai... OMIM:614438
Fanconi Anemia, Complementation Group B
Esophageal atresia, Micropenis, Duodenal atresia, Tracheoesophageal fistula, Hypogonadism, Death ... OMIM:300514
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Split hand, Phocomelia ORPHA:3004
Diamond-Blackfan Anemia 11
Unilateral radial aplasia, Forearm reduction defects, Radioulnar synostosis, Bilateral cleft pala... OMIM:614900
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormality of the dentition, Onycholysis, Brittle hair, Dystrophic fingernails, Alopecia, Dystro... OMIM:614929
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Mucolipidosis Ii Alpha/Beta
Death in childhood, Mucopolysacchariduria, Inguinal hernia, Hip dislocation, Hip dysplasia, Enlar... OMIM:252500
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Malar flattening, Supernumerary nipple, Eyelid coloboma, Finger syndacty... ORPHA:246
Cat Eye Syndrome
Rectal fistula, Hydronephrosis, Anal atresia, Absent radius, Rectal atresia, Horseshoe kidney, Vo... OMIM:115470
Radial Hemimelia
Abnormality of the trapezium, Abnormality of the scaphoid, Aplasia of the 1st metacarpal, Abnorma... ORPHA:93321
Van Der Woude Syndrome 1
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit OMIM:119300
Intestinal Dysmotility Syndrome
Cataract, High palate, Feeding difficulties, Broad philtrum, Abdominal distention, Decreased inte... OMIM:620045
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Limited elbow extension, Narrow pelvis bone, Overlapping toe, Short fourth meta... OMIM:616723
Nager Syndrome
Abnormal palate morphology, Phocomelia, Sparse lower eyelashes, Downslanted palpebral fissures, U... ORPHA:245
Amelogenesis Imperfecta
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... ORPHA:88661
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Crypto... OMIM:175700
Chronic Granulomatous Disease
Recurrent respiratory infections, Pyloric stenosis, Meningitis, Malabsorption, Sepsis, Hypermelan... ORPHA:379
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess, Chronic furunculosis OMIM:619986
Trichodermodysplasia-Dental Alterations Syndrome
Tooth agenesis, Fine hair, Brittle hair, Abnormality of dental morphology, Sparse lateral eyebrow... ORPHA:3353
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ivic Syndrome
Anal atresia, Short thumb, Synostosis of carpal bones, Aplastic clavicle, Radioulnar synostosis, ... ORPHA:2307
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Inguinal hernia, Polydactyly, Widely spaced teeth, Osteochondrosis, Upslanted palpebral fissure, ... ORPHA:268261
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Mesomelia-Synostoses Syndrome
Abnormality of the humerus, Aplasia/Hypoplasia of the uvula, Abnormal eyebrow morphology, Metatar... ORPHA:2496
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Bladder polyp, Hypermelanotic macul... OMIM:175200
Scalp-Ear-Nipple Syndrome
Epicanthus, Bifid uvula, Agenesis of permanent teeth, Broad thumb, Sparse hair, Blepharophimosis,... OMIM:181270
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Nail dysplasia, Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth, Nail dystrophy OMIM:226670
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the dentition, Abnormality of fibula morphology, Abnormal metaphysis morphology, A... ORPHA:1837
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Angular cheilitis, Skin vesicle OMIM:613102
Myopathy, Distal, 3
Joint contracture of the hand, Split hand OMIM:610099
Duane Retraction Syndrome
Cleft palate, Short palpebral fissure, Preaxial hand polydactyly, Hypoplasia of the radius, Triph... ORPHA:233
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth, Micrognathia ORPHA:3145
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Split hand, Joint contracture of the hand, Intrinsic hand... ORPHA:399086
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Onychogryposis, Hypoplastic fifth toenail, Nail dysplasia, Nail dystrophy OMIM:131960
Multiple intestinal neurofibromatosis, Abnormal prostate morphology, Colorectal polyposis, Hypert... ORPHA:251992
Erythrokeratodermia Variabilis
Cataract, Erythema, Generalized hirsutism, Skin rash, Hypermelanotic macule, Dry skin, Patchy pal... ORPHA:317
Jackson-Weiss Syndrome
Broad metatarsal, Abnormality of fibula morphology, Short metatarsal, Preaxial foot polydactyly, ... ORPHA:1540
Familial Visceral Myopathy
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Vesicoureteral ref... ORPHA:2604
Roberts-Sc Phocomelia Syndrome
Polycystic kidney dysplasia, Horseshoe kidney, Eyelid coloboma, Cleft palate, Hyperplasia of the ... OMIM:268300
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Brachydactyly Type B2
Short distal phalanx of finger, Finger syndactyly, Synostosis of carpal bones, Short toe, Short d... ORPHA:140908
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hip dysplasia, Large joint dislocations, Carious teeth, Torticollis, Hallux valgus, Metaphyseal w... ORPHA:536467
Symbrachydactyly Of Hands And Feet
Abnormality of the humerus, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb... ORPHA:1570
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Abnormality of the nail, Widely spaced teeth, Taurodontia, Fragile nails,... ORPHA:3352
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Exstrophy-Epispadias Complex
Abnormal joint morphology, Abnormality of the kidney, Renal duplication, Inguinal hernia, Horsesh... ORPHA:322
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Erythematous pl... OMIM:618531
Orofaciodigital Syndrome Iii
Hyperconvex nail, Bifid uvula, Microdontia, Supernumerary tooth, Bifid tongue, Tongue nodules OMIM:258850
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Absent radius, Cleft palate OMIM:179400
Epidermolysis Bullosa Simplex 2C, Localized
Onychomadesis, Dystrophic toenail OMIM:619594
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Skin vesicle, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, ... ORPHA:257
Nail Disorder, Nonsyndromic Congenital, 6
Anonychia, Nail dystrophy, Nail dysplasia OMIM:107000
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Recurrent respiratory infections, Abnormality of the dentition, Fine hair, Keratoconjun... ORPHA:1806
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Nonimmune hydrops fetalis, Dermal translucency, Chronic kidney disease, Sparse eyelashes, Renal i... OMIM:137940
Epicanthus, Retrognathia, Aglossia, Narrow mouth, Microglossia, Micrognathia, Adactyly, Split hand OMIM:103300
Pachyonychia Congenita
Oral leukoplakia, Onychogryposis of fingernail, Alopecia, Advanced eruption of teeth, Angular che... ORPHA:2309
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Weyers Ulnar Ray/Oligodactyly Syndrome
High palate, Proximal radial head dislocation, Proximal placement of thumb, Solitary median maxil... OMIM:602418
Proliferating Trichilemmal Cyst
Sparse scalp hair, Skin ulcer, Epidermoid cyst ORPHA:492
Fanconi Anemia, Complementation Group O
Hydronephrosis, Anal atresia, Small thenar eminence, Cryptorchidism, Stage 5 chronic kidney disea... OMIM:613390
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Upper eyelid coloboma, Downslanted palpebral fissures, Ablepharon, Flared lower lim... OMIM:616462
Chilblain Lupus
Raynaud phenomenon, Malar rash, Inflammatory abnormality of the skin, Skin rash, Erythematous pap... ORPHA:90280
Sweeney-Cox Syndrome
Short distal phalanx of finger, Prominent metopic ridge, Long fingers, Narrow mouth, 2-5 finger c... OMIM:617746
Prolidase Deficiency
White forelock, Recurrent respiratory infections, Erythema, Generalized hirsutism, Dry skin, Low ... ORPHA:742
Dyskeratosis Congenita, Autosomal Recessive 6
Oral leukoplakia, Premature loss of teeth, Alopecia, Carious teeth, Nail dystrophy, Sparse hair OMIM:616353
Cutis Laxa, Autosomal Dominant 3
Dermal translucency, Hip dislocation, Unilateral renal agenesis, Wormian bones, Delayed cranial s... OMIM:616603
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Oral synechia, Everted lower lip vermilion ORPHA:2016
Cleidocranial Dysplasia
Abnormality of the dentition, Hypoplasia of the zygomatic bone, Dystrophic fingernails, Mandibula... ORPHA:1452
Angioma Serpiginosum, X-Linked
Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Radial-Renal Syndrome
Absent radius, Ectopic kidney, Unilateral renal agenesis, Chromosome breakage, Absent thumb OMIM:179280
Fontaine Progeroid Syndrome
Short distal phalanx of finger, Anonychia, Oligodontia, Hypoplastic nipples, Short palpebral fiss... OMIM:612289
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Abnormality of dental morphology, Alopecia, Everted lower lip vermi... ORPHA:2251
Aminopterin Syndrome Sine Aminopterin
Rudimentary postaxial polydactyly of hands, High palate, Cryptorchidism, Inguinal hernia, Oligodo... OMIM:600325
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Nail dystrophy ORPHA:79503
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Death in infancy... OMIM:200700
46,Xy Sex Reversal 7
Dysgerminoma, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Pierpont Syndrome
Widely spaced teeth, Prominent median palatal raphe, High anterior hairline, Short toe, Thin verm... OMIM:602342
Tumor Predisposition Syndrome 1
Renal cell carcinoma, Cutaneous melanoma, Meningioma, Malignant mesothelioma, Uveal melanoma, Lun... OMIM:614327
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colon cancer, Colorectal polyposis, Adenomatous colonic polyposis, Sparse... ORPHA:401911
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Abnormality of the wr... ORPHA:2878
Late-Onset Junctional Epidermolysis Bullosa
Squamous cell carcinoma, Cutaneous melanoma, Basal cell carcinoma ORPHA:79406
Hypotrichosis 5
Abnormality of the dentition, Absent axillary hair, Sparse eyelashes, Abnormality of the nail, Al... OMIM:612841
Toxic Epidermal Necrolysis
Malabsorption, Macule, Abdominal pain, Intestinal perforation, Skin ulcer, Acute hepatic failure,... ORPHA:537
Dermatopathia Pigmentosa Reticularis
Alopecia of scalp, Reticulate pigmentation of oral mucosa, Nail dystrophy OMIM:125595
Radial Aplasia, X-Linked
Anal atresia, Penile hypospadias, Absent radius OMIM:312190
Lumbar Syndrome
Anal atresia, Cryptorchidism, Renal duplication, Micropenis, Ambiguous genitalia, Spina bifida, M... ORPHA:83628
Microscopic Polyangiitis
Peritonitis, Glomerulopathy, Abdominal pain, Episcleritis, Epistaxis, Skin ulcer, Subcutaneous no... ORPHA:727
Microphthalmia With Limb Anomalies
Hip dislocation, Metatarsal synostosis, Cleft palate, Short palpebral fissure, Toe syndactyly, Si... OMIM:206920
Manitoba Oculotrichoanal Syndrome
Cryptophthalmos, Anteriorly placed anus, Eyelid coloboma, Omphalocele, Vaginal atresia, Nasolacri... OMIM:248450
Oculocerebrofacial Syndrome, Kaufman Type
Telecanthus, Long foot, Epicanthus, Retrognathia, Abnormal lip morphology, Clitoral hypertrophy, ... ORPHA:2707
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Short distal phalanx of finger, Acroosteolysis of distal phalanges (feet), Osteolyti... ORPHA:90153
Neu-Laxova Syndrome 2
High palate, Wide intermamillary distance, Spina bifida, Finger syndactyly, Ablepharon, Rocker bo... OMIM:616038
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Malar flattening, Abnormality of dental morphology, Maxillozygomatic hypoplasia, Alveolar process... ORPHA:2972
Charcot-Marie-Tooth Disease And Deafness
Split hand, Thenar muscle atrophy, Thenar muscle weakness, Hammertoe OMIM:118300
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency, Thick eyebrow, Abnormal fingertip morphology ORPHA:529965
Pseudopelade Of Brocq
Cheilitis, Abnormality of the nail, Alopecia, Recurrent skin infections, Abnormal hair morphology... ORPHA:129
Constricting Bands, Congenital
Encephalocele, Hand polydactyly, Syndactyly, Cleft palate, Omphalocele, Bladder exstrophy, Gastro... OMIM:217100
Fetal Minoxidil Syndrome
Cryptorchidism, Umbilical hernia, Micrognathia, Generalized hirsutism, Clinodactyly of the 5th fi... ORPHA:1918
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Anal canal adenocarcinoma, Neoplasm of the liver, Abdominal pain, Lymphad... ORPHA:424016
Thakker-Donnai Syndrome
Hydronephrosis, Anal atresia, Upslanted palpebral fissure, Narrow mouth, Downturned corners of mo... ORPHA:1780
Acromesomelic Dysplasia 2C
Single transverse palmar crease, Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia ... OMIM:201250
Trichorhinophalangeal Syndrome Type 2
Abnormality of the dentition, Abnormal palate morphology, Aplasia/Hypoplasia of the mandible, Dee... ORPHA:502
C Syndrome
Epicanthus, Hip dislocation, Upslanted palpebral fissure, Micromelia, Toe syndactyly, Thick anter... OMIM:211750
Maternal Phenylketonuria
Abnormal renal morphology, Esophageal atresia, High palate, Bifid distal phalanx of the thumb, Bl... ORPHA:2209
Townes-Brocks Syndrome
Multiple renal cysts, Toe syndactyly, Broad thumb, Urethral valve, Preaxial hand polydactyly, Pes... ORPHA:857
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Absent radius, Anteriorly placed anus, Aplasia/Hypoplasia of the thumb, Upslanted p... ORPHA:1352
Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair OMIM:158000
Chondroectodermal Dysplasia With Night Blindness
Hyperconvex fingernails, Abnormality of dental morphology, Hyperconvex toenail, Micrognathia, Nai... ORPHA:319195
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Cryptorchidism, Micropenis, Malar flattening, Umbilical hernia, Toe syndactyly,... ORPHA:171839
Meier-Gorlin Syndrome 1
Cleft palate, Short palpebral fissure, Narrow mouth, Aplasia/Hypoplasia of the patella, Cutaneous... OMIM:224690
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Cryptorchidism, Absent radius, Short thumb, Micropenis, Horseshoe kidney, Pel... OMIM:227646
Cardiocranial Syndrome, Pfeiffer Type
Cryptorchidism, Torticollis, Micropenis, Plantar flexion contracture, Bifid uvula, Abnormal hair ... ORPHA:2872
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Madelung deformity, Dorsal subluxation of ul... ORPHA:240
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Absent radius, Horseshoe kidney, Ectopic kidney, Ureteral duplication, Absen... OMIM:602200
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Split hand, Hammertoe, Talipes equinovarus OMIM:604563
Carpenter Syndrome 1