Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transformation related protein 63
Synonyms:
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

Significant
Not Significant
Not tested

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 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
phenotypes
Matching phenotypes Source
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Oligodactyly, Finger syndactyly ORPHA:2440
Limb-Mammary Syndrome
Absent nipple, Sparse eyebrow, Alopecia, Cleft palate, Absent lacrimal punctum, Breast aplasia, C... ORPHA:69085
Limb-Mammary Syndrome
Joint contracture of the hand, Hypodontia, Cleft palate, Split foot, Syndactyly, Bifid uvula, Cam... OMIM:603543
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Ankyloblepharon, Cleft palate, Hyperconvex nail, Conical tooth, Hypoplasia of th... OMIM:106260
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cleft palate, Hypoplastic sacrum, Facial hirsutism, Sparse eyebrow, Microdontia, Carious teeth, H... OMIM:604292
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Bladder Exstrophy
Abnormality of the anus, Abnormality of the clitoris, Hypoplasia of penis, Inguinal hernia, Intes... ORPHA:93930
Rapp-Hodgkin Syndrome
Sparse hair, Cleft palate, Absent lacrimal punctum, Microdontia, Conical tooth, Hypoplasia of the... OMIM:129400
Adult Syndrome
Absent nipple, Sparse scalp hair, Melanocytic nevus, Toenail dysplasia, Alopecia, Abnormality of ... ORPHA:978
Isolated Cleft Lip
Velopharyngeal insufficiency, Hypodontia, Talipes equinovarus, Macrodontia, Supernumerary maxilla... ORPHA:199302
Adult Syndrome
Absent nipple, Sparse scalp hair, Fair hair, Hypodontia, Wide intermamillary distance, Split foot... OMIM:103285
Eec Syndrome
Cleft palate, Sparse eyebrow, Coarse hair, Microdontia, Carious teeth, Tooth agenesis, Thick eyeb... ORPHA:1896
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Cleft Lip And Alveolus
Dysphagia, Lip pit, Hypodontia ORPHA:141291

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

Disease Similarity of
phenotypes
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
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Ectrodactyly-Polydactyly
Postaxial hand polydactyly, Split hand, Split foot OMIM:225290
Triphalangeal Thumbs With Brachyectrodactyly
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand OMIM:190680
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot OMIM:183500
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly OMIM:616890
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot ORPHA:1122
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Ectrodactyly-Cleft Palate Syndrome
Split hand OMIM:129830
Lichen Amyloidosis
Pruritus ORPHA:49804
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on hand, Eczematoid dermatitis, Pruritus on foot, Palmoplantar erythema, Palmar pruritus... ORPHA:64745
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Syngnathia
Cleft palate OMIM:119550
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... OMIM:616849
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Split hand, Split foot OMIM:129810
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Darier Disease
Macule, Acrokeratosis, Hypermelanotic macule, Subungual hyperkeratotic fragments, Anal mucosal le... ORPHA:218
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth agenesis, Tooth malposition, Sparse hair, Alopecia, Sparse body hair,... ORPHA:2722
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot OMIM:183700
Sugarman Brachydactyly
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... OMIM:272150
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Skin erosion, Localized skin lesion, Carious teeth, Keloids, Skin vesicle,... ORPHA:79410
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split hand, Tapered finger, Split foot OMIM:220600
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Agenesis of permanent teeth, Macrodontia, S... OMIM:602401
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits, Nail dystrophy, Dystrophic fingernails, Scarring alopecia of s... OMIM:619787
Pemphigus Foliaceus
Pustule, Skin erosion, Erythema, Serpiginous cutaneous lesion, Annular cutaneous lesion, Abnormal... ORPHA:79481
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Cooks Syndrome
Split hand, Triphalangeal thumb, Brachydactyly, Broad thumb ORPHA:1487
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... ORPHA:1113
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Patchy alopecia, Fragile nails, Camptodactyly of finger, Cario... OMIM:226650
Lichen Planus Pemphigoides
Skin vesicle, Abnormal oral mucosa morphology, Hyperkeratosis, Pruritus ORPHA:254478
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Basal cell carcinoma OMIM:618267
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... OMIM:112700
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... OMIM:615072
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Candidiasis, Familial, 1
Premature loss of teeth, Chronic mucocutaneous candidiasis, Alopecia OMIM:114580
Parc Syndrome
Microretrognathia, Absent eyebrow, Cleft palate, Alopecia, Absent eyelashes OMIM:600331
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Frag... ORPHA:2228
Anonychia-Microcephaly Syndrome
Clinodactyly of the 5th finger, Abnormality of the dentition, Anonychia, Carious teeth, Aplastic/... ORPHA:1094
Bartsocas-Papas Syndrome 1
Ablepharon, Ankyloblepharon, Absent thumb, Alopecia, Cleft palate, Alopecia totalis, Cicatricial ... OMIM:263650
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Sparse hair, High, narrow palate, Sparse eyebrow, Tiger tail banding, Brachy... OMIM:619692
Ulnar-Mammary Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of the humerus, Pyloric stenosis, Breast aplasia, Sho... ORPHA:3138
Pemphigoid Gestationis
Skin vesicle, Pruritus ORPHA:63275
Familial Benign Chronic Pemphigus
Skin erosion, Erythema, Acantholysis, Hyperkeratosis, Skin vesicle ORPHA:2841
Dowling-Degos Disease
Hypermelanotic macule, Acne inversa, Epidermoid cyst, Hypopigmented macule, Anal margin squamous ... ORPHA:79145
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... OMIM:606835
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Tricho-Retino-Dento-Digital Syndrome
Supernumerary tooth, Sparse hair, Abnormality of the dentition, Oligodontia, Brachydactyly, Short... ORPHA:1264
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Dystrophic... OMIM:226440
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Moebius Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Microdontia, Breast aplasia, Open mo... ORPHA:570
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Absent thumbnail, Brachydactyly, Triphalangeal thumb, Conical tooth, Absent toenail, Nail dystrop... OMIM:124480
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Iga Pemphigus
Oral mucosal blisters, Pustule, Skin erosion, Annular cutaneous lesion, Acantholysis, Skin plaque... ORPHA:555905
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin... ORPHA:2869
Lacrimoauriculodentodigital Syndrome
Abnormal lacrimal duct morphology, Absent thumb, Hypoplasia of the radius, Abnormality of the den... ORPHA:2363
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
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Split hand, Short metatarsal, Type B brachydactyly, Aplasia/Hypoplasia of the distal phalanges of... OMIM:106990
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Absent fingernail, Absent toenail, Dystrophic toenail, Nail dystrophy, Ero... ORPHA:231568
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... OMIM:606895
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Anal canal squamous cell carcinoma, Intestinal ble... ORPHA:424019
Acrofacial Dysostosis 1, Nager Type
Wide mouth, Absent thumb, Cleft palate, Hypoplasia of the radius, Radioulnar synostosis, Downslan... OMIM:154400
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... ORPHA:2751
Cerebellar Ataxia And Ectodermal Dysplasia
Agenesis of permanent teeth, Sparse hair, Alopecia OMIM:212835
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Acrofacial Dysostosis, Weyers Type
Hypoplastic toenails, Clinodactyly of the 5th finger, Hypodontia, Toenail dysplasia, Small hand, ... ORPHA:952
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Epidermolysis Bullosa, Junctional 5A, Intermediate
Onycholysis of distal fingernails, Absent pubic hair, Premature loss of permanent teeth, Nail dys... OMIM:619816
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Oligodactyly, Finger syndactyly ORPHA:2440
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Papule, Hyperkeratosis, Recurrent cutaneous fungal infections OMIM:244850
Ectodermal Dysplasia/Short Stature Syndrome
Hypodontia, Anonychia, Enamel hypoplasia, Nail dystrophy, Dysphagia OMIM:616029
Hypoglossia-Hypodactyly Syndrome
Short distal phalanx of finger, High palate, Anal atresia, Narrow mouth, Aplasia/Hypoplasia of th... ORPHA:989
Acrocallosal Syndrome
High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Downslan... OMIM:200990
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Absent eyebrow, Cleft palate, Alopecia, Sparse body hair, Brittle hair, Ecz... ORPHA:2890
Localized Dystrophic Epidermolysis Bullosa, Nails Only
Fragile nails, Onychogryposis of fingernail, Onychogryposis of toenails, Absent toenail, Dystroph... ORPHA:158676
Localized Junctional Epidermolysis Bullosa
Mitten deformity, Sparse axillary hair, Sparse pubic hair, Atrophic, patchy alopecia, Enamel hypo... ORPHA:251393
Erythema Elevatum Diutinum
Skin vesicle, Skin rash, Skin nodule ORPHA:90000
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Anonychia, Carious teeth, Enamel hypoplasia, Nail dystrophy ORPHA:79406
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Sparse eyebrow, Cleft palate, Microdontia, Carious teeth, Hypoplasia of the maxilla,... OMIM:129900
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Parakeratosis, Pruritus, Erythema migrans ORPHA:158681
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... OMIM:177170
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna, Abnormality of tibia m... ORPHA:971
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Periodontitis, Congenital alopecia totalis OMIM:104130
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Limb-Mammary Syndrome
Absent nipple, Sparse eyebrow, Alopecia, Cleft palate, Absent lacrimal punctum, Breast aplasia, C... ORPHA:69085
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Short philt... ORPHA:2325
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pe... OMIM:184252
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Oral mucosal blisters, Anonychia, Carious teeth, Nail dystrophy ORPHA:79411
Split-Hand/Foot Malformation 3
High palate, Nail dysplasia, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypopl... OMIM:246560
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Branchial fistula, Abnormality ... ORPHA:861
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Short thumb, Alopecia OMIM:188150
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Arthritis, Sacroiliac
Pruritus OMIM:108100
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
High palate, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the... OMIM:276820
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Sparse body hair, Anonychia, Enamel hypoplasia, Nail dystrophy, Scarring a... ORPHA:79402
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Micromelia, Aplasia/Hypoplasia... ORPHA:2879
Cloacal Exstrophy
Bladder exstrophy, Abnormality of fibula morphology, Horseshoe kidney, Omphalocele, Anal atresia,... ORPHA:93929
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Brachydactyly, Abnormal meta... ORPHA:1406
Baller-Gerold Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Downslanted palpebral fissures, Hypoplasia o... OMIM:218600
Acrorenal Syndrome, Autosomal Recessive
Radial deviation of finger, Clinodactyly, Split hand, Split foot OMIM:201310
Dermatitis Herpetiformis
Macule, Malabsorption, Eczema, Erythema, Pruritus, Skin vesicle ORPHA:1656
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Anonychia, Carious teeth, Enamel hypoplasia, Nail dystrophy ORPHA:79405
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony... ORPHA:1808
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Supernumerary tooth, Thick eyebrow, Brittle hair, Prominent fingertip pads, Thin ver... OMIM:617412
Odontoma-Dysphagia Syndrome
Dysphagia, Abnormal esophagus morphology OMIM:164330
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Pruritus ORPHA:505
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Nail dystrophy, Pruritus, Alopecia OMIM:616487
Witkop Syndrome
Sparse hair, Agenesis of permanent teeth, Microdontia of primary teeth, Ridged nail, Fine hair, C... OMIM:189500
Schopf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Generalized hirsutism, Thick eyebrow, Abnormality of the dentition, Delayed ... ORPHA:2222
Lichen Planopilaris
Alopecia, Onycholysis, Papule, Abnormal fingernail morphology, Neoplasm of the oral cavity, Hepat... ORPHA:525
Epidermolysis Bullosa, Junctional 1B, Severe
Nail dysplasia, Syndactyly, Carious teeth, Pyloric stenosis, Enamel hypoplasia, Death in infancy,... OMIM:226700
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Premature osteoarthritis, Short distal phalanx of finger,... ORPHA:93314
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges
High palate, Nail dysplasia, Shortening of all distal phalanges of the fingers, Short philtrum, A... OMIM:106995
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Hypoplasia of the radius, Hypoplasia of the ulna, Pyloric stenosis... OMIM:181450
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dysplasia, Anodontia, Sparse hair, Supernumerary nipple, Enamel hypoplasia, Nail dystrophy OMIM:275450
Ectodermal Dysplasia 9, Hair/Nail Type
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail OMIM:614931
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Hammertoe, Split hand OMIM:605726
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Wells Syndrome
Skin vesicle, Pruritus ORPHA:901
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Cleft palate, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Hor... OMIM:274000
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... OMIM:171480
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Basal cell carcinoma ORPHA:409
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hydrops fetalis, Neonatal death, Hand oligodactyly OMIM:276822
Acrofacial Dysostosis, Palagonia Type
Pili torti, Low anterior hairline, Supernumerary tooth, Sparse hair, High, narrow palate, Sparse ... ORPHA:1787
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Syndactyly, Microdontia, Camptodactyly, Widely spaced teeth, Split... OMIM:225280
Dermatoleukodystrophy
Progeroid facial appearance, Premature skin wrinkling OMIM:221790
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Aplasia/Hypoplasia of the ... ORPHA:52056
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Supernumerary tooth, Abnormality of the dentition, Fragile nails, Subung... ORPHA:69087
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Classic Mycosis Fungoides
Skin rash, Splenomegaly, Alopecia, Eczema, Erythema, Dry skin, Abnormality of the nail, Hyperkera... ORPHA:2584
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Hirsutism, Thick eyebrow, Generalized hirsutism, Abnormality of the dentitio... ORPHA:2026
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Thick eyebr... ORPHA:3473
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Labial hypoplasia, Clinodactyly of the 5th finger, Bicornuate uterus, Craniosynostosis, Spina bif... OMIM:300707
Prenatal Bowing
Bowing of the long bones OMIM:264050
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Premature loss of primary teeth, Abnormal fingernail morphology, Fine hair, Abnormal to... ORPHA:248
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Dental malocclusion, Short distal phalanx of finger, Abnormality of hair texture,... OMIM:601957
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Cdags Syndrome
Sparse scalp hair, Anal atresia, Short clavicles, Ectropion, Sparse eyebrow, Sparse eyelashes, Sh... OMIM:603116
Branchioskeletogenital Syndrome
Absent nipple, Craniosynostosis, Abnormality of the dentition, Short philtrum, Bladder exstrophy,... ORPHA:1299
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, ... ORPHA:3320
Bartsocas-Papas Syndrome
Hypoplastic toenails, Narrow mouth, Ankyloblepharon, Absent thumb, Cleft palate, Aplasia/Hypoplas... ORPHA:1234
Trichorhinophalangeal Syndrome Type 1 And 3
High palate, Short distal phalanx of finger, Clinodactyly of the 5th finger, Leukonychia, Supernu... ORPHA:77258
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the radius, 2-3 finger syndactyly, Absent lacrimal punctum, Radial deviation of the... OMIM:149730
Ear-Patella-Short Stature Syndrome
Cleft palate, Craniosynostosis, Clitoral hypoplasia, Breast aplasia, Abnormal epiphysis morpholog... ORPHA:2554
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormality of the dent... ORPHA:1008
Epidermolysis Bullosa Simplex 1B, Generalized Intermediate
Oral mucosal blisters, Nail dystrophy OMIM:131900
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Alopecia, Ridged nail, Carious teeth OMIM:614564
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Isolated Congenital Digital Clubbing
Nail dysplasia, Hyperconvex nail, Broad finger, Broad fingertip, Clubbing of toes, Broad thumb, B... ORPHA:217059
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Abnormality of the dentition, Nail dystrophy, Oral mucosal blisters, Pruritus ORPHA:79399
Sc phocomelia syndrome
Aplasia of the ulna, Cleft upper lip, Fair hair, Sparse hair, Micrognathia, Wormian bones, Short ... OMIM:269000
Postaxial Acrofacial Dysostosis
Cleft upper lip, Ectropion, Supernumerary nipple, Cleft palate, Micropenis, Hypoplasia of the rad... OMIM:263750
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Sparse hair, Cone-shaped epiphyses of the middle phalanges... OMIM:190351
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Oral mucosal blisters, Abnormal fingernail morphology, Absent toenail, Ridged nail, Pruritus, Dys... ORPHA:89838
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic sacrum, Avascular necr... OMIM:304950
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased palmar creases, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia,... ORPHA:2232
Codas Syndrome
Anal atresia, Metaphyseal dysplasia, Delayed ossification of carpal bones, Gastroesophageal reflu... OMIM:600373
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Isolated Agammaglobulinemia
Malabsorption, Sinusitis, Skin rash, Otitis media, Sepsis, Diarrhea, Abnormality of the lymphatic... ORPHA:229717
Elastoderma
Cutis laxa, Premature skin wrinkling ORPHA:228240
Epidermolysis Bullosa Simplex 1A, Generalized Severe
Oral mucosal blisters, Nail dystrophy OMIM:131760
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Dislocation of the femoral head, High palate, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:210730
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dysplasia, Folliculitis, Sparse eyebrow, Alopecia, Sparse eyelashes, Carious teeth, Enamel h... OMIM:612843
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Wide mouth, Short metacarpal, Small epiphyses, Short long bone, Thick lower lip vermilion, Long p... OMIM:611717
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Nail dystrophy, Inflammation of the large intestine, Pruritus ORPHA:46487
Teebi Hypertelorism Syndrome 2
High palate, Clinodactyly of the 5th finger, Thick eyebrow, Cleft palate, Everted lower lip vermi... OMIM:619736
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Oral mucosal blisters, Nail dystrophy OMIM:132000
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Short femoral neck, Tapered f... OMIM:618395
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyebrow, Conical tooth, Absent eyelashes, Nail dystrophy, Thin nail OMIM:618625
X-Linked Agammaglobulinemia
Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Alopecia, Glossoptosis, Sepsis, Abnormality o... ORPHA:47
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Elbow dis... ORPHA:2538
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Hypoplastic toenails, Sparse scalp hair, 2-3 toe cutaneous syndactyly, Patchy alopeci... OMIM:613573
Metaphyseal Anadysplasia
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... ORPHA:1040
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Split foot OMIM:601348
Ablepharon-Macrostomia Syndrome
Wide mouth, Ablepharon, Sparse hair, Ambiguous genitalia, Anteriorly placed anus, Omphalocele, Hy... OMIM:200110
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Fraser Syndrome
High palate, Ambiguous genitalia, Umbilical hernia, Omphalocele, Encephalocele, Small scrotum, Ec... ORPHA:2052
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Anal fissure, S... ORPHA:209964
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Oral mucosal blisters, Alopecia, Abnormality of the dentition, Nail dystrophy ORPHA:79397
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal oral mu... ORPHA:79147
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Abnormality of the d... ORPHA:457395
Ablepharon Macrostomia Syndrome
Wide mouth, Ablepharon, Sparse hair, Microdontia, Ambiguous genitalia, Hypoplasia of the maxilla,... ORPHA:920
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
High palate, Recurrent skin infections, Alopecia, Abnormality of the dentition, Eczema, Atopic de... OMIM:618282
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Split hand, Short humerus, Micromelia, Postaxial hand polydactyly... ORPHA:2491
Pachyonychia Congenita 2
Nail dysplasia, Sparse scalp hair, Folliculitis, Sparse eyebrow, Subungual hyperkeratosis, Dry ha... OMIM:167210
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Aarskog-Scott Syndrome
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Downslanted palpebral fiss... ORPHA:915
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Hyperkeratosis, Pruritus ORPHA:735
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Trisomy 10P
Flexion contracture of thumb, High palate, Downslanted palpebral fissures, Ulnar deviated club ha... ORPHA:171929
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic... ORPHA:498359
Reticular Dysgenesis
Malabsorption, Skin rash, Sepsis, Diarrhea, Chronic otitis media, Skin ulcer, Aplasia/Hypoplasia ... ORPHA:33355
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Sparse hair, Alopecia, Tracheoesophageal fistula, Hematuria, Abnormal morpho... ORPHA:1839
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Limb-Mammary Syndrome
Joint contracture of the hand, Hypodontia, Cleft palate, Split foot, Syndactyly, Bifid uvula, Cam... OMIM:603543
Diphallia
Absent thumb, Abnormality of the pubic bone, Bladder exstrophy, Horseshoe kidney, Duplicated colo... ORPHA:227
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Fraser Syndrome 1
Cleft palate, Clitoral hypertrophy, Encephalocele, Aplasia/Hypoplasia of the phalanges of the han... OMIM:219000
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Chronic Mucocutaneous Candidiasis
Abnormal vagina morphology, Cheilitis, Dyspareunia, Skin rash, Recurrent respiratory infections, ... ORPHA:1334
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, High palate, Cleft palate, Bifid scrotum, Aplasia/Hypoplasia of t... ORPHA:1784
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... ORPHA:217390
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta, Trichodysplasia, Alopecia of scalp ORPHA:79129
Juvenile Hyaline Fibromatosis
Gingival overgrowth, Abnormality of the gastrointestinal tract, Gingival fibromatosis, Papule, Ap... ORPHA:2028
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Abnormality of the dentition, Sparse eyel... OMIM:129500
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Tooth agenesis, Nephrotic syndrome, Abnormal hair quantity, Aplasia/Hypoplasia of the ... ORPHA:238468
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent ra... OMIM:617247
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Sparse hair, Alopecia, Everted lower lip vermilion, Onychogryposis of fingernail, Camptodactyly o... ORPHA:2251
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Mmep Syndrome
Triphalangeal thumb, Split foot, Median cleft lip, Oral cleft ORPHA:3434
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, High palate, Narrow mouth, Short sternum, Talipes equinovarus, Short metacar... OMIM:266910
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... ORPHA:2919
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent ... ORPHA:499
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Horseshoe kidney, Ana... OMIM:607323
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Cleft palate, Craniosynostosis, Abnormali... OMIM:251230
Hypoplasminogenemia
Nephrolithiasis, Gingival overgrowth, Periodontitis, Duodenal ulcer, Cervicitis, Abnormal fallopi... ORPHA:722
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Bifid uterus, Congenital hip dislocation, 11 pair... OMIM:258040
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Malakoplakia
Neoplasm of the rectum, Neoplasm of the colon, Abnormality of the tongue, Inflammatory abnormalit... ORPHA:556
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Pruritus, Erythema, Papule ORPHA:2337
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Seckel Syndrome 5
High palate, Clinodactyly of the 5th finger, Hypodontia, Retrognathia, Micrognathia, Oligodontia,... OMIM:613823
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Short tubular bones of the hand,... OMIM:184253
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Gingival f... OMIM:228560
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Alopecia, Orbital cyst, Congenital hip dislocation, Eyelid c... OMIM:164180
Acrodermatitis Enteropathica
Abnormality of the tongue, Cheilitis, Alopecia, Glossitis, Furrowed tongue, Skin ulcer, Poor appe... ORPHA:37
Dracunculiasis
Skin rash, Diarrhea, Arthritis, Subcutaneous nodule, Skin ulcer, Nausea and vomiting, Recurrent c... ORPHA:231
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
High palate, Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, E... OMIM:226980
Eem Syndrome
Ectrodactyly, Finger syndactyly, Microdontia, Carious teeth, Widely spaced teeth, Abnormality of ... ORPHA:1897
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Melanoma, Basal cell carcinoma ORPHA:90342
10Q22.3Q23.3 Microdeletion Syndrome
Microretrognathia, Upslanted palpebral fissure, Arachnodactyly, Downslanted palpebral fissures, E... ORPHA:276413
Orofaciodigital Syndrome Type 4
Abnormality of the tongue, Absent testis, Cleft palate, Short philtrum, Micromelia, Oral synechia... ORPHA:2753
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Delayed eruption of... ORPHA:2025
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Pyoderma Gangrenosum
Pustule, Papule, Inflammation of the large intestine, Atrophic scars, Skin ulcer, Skin vesicle ORPHA:48104
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse hair, Alopecia, Abnormality of the dentition, Carious teeth, Sparse lateral eyebrow, Cleft... ORPHA:3253
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Slanting of th... ORPHA:476126
Vaginal Atresia
Bicornuate uterus, Abdominal pain, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervi... ORPHA:65681
Idiopathic Trachyonychia
Nail pits, Toenail dysplasia, Patchy alopecia, Abnormality of the periungual region, Fragile nail... ORPHA:79153
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... OMIM:112450
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus OMIM:146750
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Heimler Syndrome 2
Dental crowding, Beau's lines, Leukonychia, Amelogenesis imperfecta OMIM:616617
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Ankyloblepharon, Cleft palate, Hyperconvex nail, Conical tooth, Hypoplasia of th... OMIM:106260
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Midshaft hypospadias, Tooth agenesis, Micrognathia, Camptodactyly of f... ORPHA:2863
Boomerang Dysplasia
Neonatal death, Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Localized Epidermolysis Bullosa Simplex
Nail dystrophy, Oral mucosal blisters, Pruritus, Erosion of oral mucosa ORPHA:79400
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Urethral atresia, Tracheoesophageal fistula, Short humerus, Enlarged kidney, Hydron... OMIM:314390
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal irregularity, Broad phalanx, Metaphyseal dysplasia, Metaphyseal cupping, Coxa vara, S... OMIM:250420
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormalit... ORPHA:1350
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Chondrocalcino... OMIM:118610
White-Kernohan Syndrome
Wide mouth, Horizontal eyebrow, Long eyelashes, Tented upper lip vermilion, Horseshoe kidney, Ant... OMIM:619426
Papillon-Lefèvre Syndrome
Periodontitis, Chronic furunculosis, Tooth agenesis, Pustule, Hypertrichosis, Recurrent skin infe... ORPHA:678
De Barsy Syndrome
High palate, Sparse hair, Excessive wrinkled skin, Congenital hip dislocation, Delayed eruption o... ORPHA:2962
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Split hand, Ulnar claw OMIM:606595
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cleft palate, Hypoplastic sacrum, Facial hirsutism, Sparse eyebrow, Microdontia, Carious teeth, H... OMIM:604292
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Nail dystrophy, Alopecia OMIM:601705
Visceral Myopathy 2
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis,... OMIM:619350
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Ulerythema Ophryogenesis
Miscarriage, Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Erythemato... ORPHA:3406
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp OMIM:617294
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Orofaciodigital Syndrome Iii
Supernumerary tooth, Hyperconvex nail, Bifid tongue, Bifid uvula, Microdontia, Postaxial hand pol... OMIM:258850
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Ichthyosis Hystrix Of Curth-Macklin
Autoamputation of digits, Nail dystrophy, Recurrent skin infections ORPHA:79503
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis OMIM:270220
Epidermolysis Bullosa Dystrophica, Pretibial
Nail dystrophy, Pruritus OMIM:131850
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Neu-Laxova Syndrome 1
Ablepharon, Cleft palate, Bifid uterus, Micromelia, Small placenta, Rocker bottom foot, Pterygium... OMIM:256520
Tricho-Dento-Osseous Syndrome
Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Fragile nails, Finger clinodactyly... ORPHA:3352
Bladder Exstrophy
Abnormality of the anus, Abnormality of the clitoris, Hypoplasia of penis, Inguinal hernia, Intes... ORPHA:93930
Postaxial Acrofacial Dysostosis
Supernumerary nipple, Cleft palate, Malar flattening, Hypoplasia of the radius, Micrognathia, Cam... ORPHA:246
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Split foot OMIM:183802
Seckel Syndrome 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, 11 pairs of ribs, ... OMIM:210600
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Barber-Say Syndrome
Wide mouth, Ablepharon, Ectropion, Generalized hirsutism, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1231
Charcot-Marie-Tooth Disease And Deafness
Hammertoe, Split hand OMIM:118300
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Leopard Syndrome 1
Hypoplasia of the ovary, Cleft palate, Micropenis, Unilateral renal agenesis, Hypospadias, Scapul... OMIM:151100
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Clinodactyly of the 5th finger, Gastroesophageal reflux, Upslanted palpebral fissur... OMIM:600123
Chondroectodermal Dysplasia With Night Blindness
Metaphyseal irregularity, Metaphyseal dysplasia, Congenital onychodystrophy, Hyperconvex fingerna... ORPHA:319195
Trichorhinophalangeal Syndrome Type 2
Sparse scalp hair, Cone-shaped epiphyses of the phalanges of the hand, Supernumerary tooth, Thick... ORPHA:502
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Persistence of primary teeth, Supernumerary tooth, Talipes equinovarus, Recurrent sk... OMIM:619752
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of the dentition, Microdon... ORPHA:1837
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Nail Disorder, Nonsyndromic Congenital, 6
Nail dysplasia, Tapered distal phalanges of finger, Anonychia, Nail dystrophy OMIM:107000
Fanconi Anemia, Complementation Group L
Anal atresia, Absent thumb, Bilateral talipes equinovarus, Hypoplastic sacrum, Upslanted palpebra... OMIM:614083
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Tooth agenesis, Woolly hair, Fragile nails, Gingival recession, Pruritus, Nail dystr... OMIM:615821
Xeroderma Pigmentosum, Complementation Group F
Keratoacanthoma, Scoliosis, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of the skin, ... OMIM:278760
Hypoglossia-Hypodactylia
Narrow mouth, Retrognathia, Micrognathia, Epicanthus, Aglossia, Adactyly, Split hand, Microglossia OMIM:103300
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Micrognathia, De... OMIM:264475
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Delayed eruption of teeth, Tapered finger, Carious te... ORPHA:1452
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... ORPHA:1570
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Premature thelarche, Tapered finger, Pyloric stenosis, Breast aplasia, Shawl scrotum, Chordee, Re... ORPHA:268261
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Brittle hair, Alopecia, Sparse eyelashes, Abnormality of the dentition, Sparse... OMIM:614929
Fanconi Anemia, Complementation Group B
Duodenal atresia, Absent thumb, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fis... OMIM:300514
Nager Syndrome
Wide mouth, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Hypoplasia of the radius, Micrognath... ORPHA:245
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Nephrobla... ORPHA:158057
Ivic Syndrome
Anal atresia, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones, Ra... ORPHA:2307
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short metacarpal OMIM:611263
Chilblain Lupus 1
Skin ulcer, Abnormality of the nail, Chilblains, Raynaud phenomenon OMIM:610448
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Micromelia, Abnormality of the ankle... ORPHA:2496
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Split hand, Talipes equinovarus OMIM:607831
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency, Abnormal fingertip morphology, Thick eyebrow ORPHA:529965
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Joint contracture of the h... ORPHA:399086
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... ORPHA:90797
Acrofacial Dysostosis, Cincinnati Type
Ablepharon, Flared lower limb metaphysis, Cleft palate, Retrognathia, Femoral bowing, Micrognathi... OMIM:616462
Ectodermal Dysplasia 5, Hair/Nail Type
Sparse scalp hair, Absent toenail, Dystrophic fingernails OMIM:614927
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Hypoplastic toenails, Tooth agenesis, Everted lower lip vermil... ORPHA:1028
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Cleft upper lip, High palate, Hand oligodactyly, Absent thumb, Hy... OMIM:602418
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate, Absent radius OMIM:179400
Deafness-Craniofacial Syndrome
Short lingual frenulum, Alopecia OMIM:125230
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Mucolipidosis Ii Alpha/Beta
Wide mouth, Sparse hair, Sparse eyebrow, Craniosynostosis, Bullet-shaped phalanges of the hand, E... OMIM:252500
Aase-Smith Syndrome
Talipes equinovarus, Slender finger, Cleft palate, Abnormal hip bone morphology, Camptodactyly of... ORPHA:916
Cryoglobulinemic Vasculitis
Petechiae, Viral hepatitis, Abdominal pain, Splenomegaly, Mediastinal lymphadenopathy, Hematuria,... ORPHA:91138
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Lelis Syndrome
Yellow nails, Sparse hair, Hypodontia, Carious teeth, Furrowed tongue, Abnormal toenail morpholog... ORPHA:140936
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Scalp-Ear-Nipple Syndrome
Nail dysplasia, Abnormal hair morphology, 2-3 toe syndactyly, Sparse hair, 3-4 finger cutaneous s... OMIM:181270
C Syndrome
High palate, Wide mouth, Micromelia, Ulnar deviation of finger, Clitoral hypertrophy, Omphalocele... OMIM:211750
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... ORPHA:3312
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Alopecia, Recurrent sinusitis, Recurrent pneumonia, Recurrent infectio... OMIM:616576
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Amyloidosis, Primary Localized Cutaneous, 2
Pruritus OMIM:613955
Oculotrichodysplasia
Nail dysplasia, Widely spaced primary teeth, Sparse scalp hair, Sparse eyelashes, Sparse axillary... OMIM:257960
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Tapered finger, Alopecia totalis, Abnormality of the nail, Short finger OMIM:302000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Abnormal lacrimal duct morphology, Streak ovary, Hypergonadotropic hypogonadism, Punctal stenosis... ORPHA:572333
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Cutis laxa, Inguinal hernia, Excessive wrinkled skin, Thin vermilion border, Flexion... OMIM:614438
Dermatopathia Pigmentosa Reticularis
Reticulate pigmentation of oral mucosa, Nail dystrophy, Alopecia of scalp OMIM:125595
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Tibial Hemimelia
Cleft palate, Radial club hand, Ambiguous genitalia, Aplasia of the 2nd metacarpal, Talipes equin... ORPHA:93322
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalange... OMIM:609638
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Oculocerebrofacial Syndrome, Kaufman Type
Wide mouth, Short palpebral fissure, Absent eyebrow, Upslanted palpebral fissure, Arachnodactyly,... ORPHA:2707
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Talipes equinovarus, Patchy alopecia, Camptodactyly of finger, Tapered finger, Hypop... ORPHA:85279
Townes-Brocks Syndrome
Wide mouth, Ulnar deviation of finger, Anteriorly placed anus, Absent toe, Abnormal vagina morpho... ORPHA:857
Greig Cephalopolysyndactyly Syndrome
Hirsutism, Abnormal muscle fiber morphology, Joint contracture of the hand, Inguinal hernia, Cran... OMIM:175700
Mammary-Digital-Nail Syndrome
Nail dysplasia, Anonychia, Nail dystrophy OMIM:613689
Autosomal Dominant Hyper-Ige Syndrome
Cleft palate, Skin rash, Abnormality of the dentition, Eczema, Delayed eruption of teeth, Papule,... ORPHA:2314
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Carpal bone aplasia, Syndactyly OMIM:609428
Cat Eye Syndrome
Anal atresia, Meckel diverticulum, Rectal fistula, Cleft palate, Intestinal malrotation, Microgna... OMIM:115470
Hemifacial Atrophy, Progressive
Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,... OMIM:141300
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth, Carious teeth ORPHA:3145
Odontomicronychial Dysplasia
Premature eruption of permanent teeth, Short nail, Slow-growing nails, Abnormality of the dentiti... ORPHA:1811
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Erythema, Papule, Indurated nodule, Annular cutaneous lesio... ORPHA:542592
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Treacher Collins Syndrome 4
Cleft palate, Malar flattening, Micrognathia, Downslanted palpebral fissures, Lower eyelid colobo... OMIM:618939
Sweeney-Cox Syndrome
High palate, Anal atresia, Short clavicles, Generalized hirsutism, Gastroesophageal reflux, Narro... OMIM:617746
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Abnormal eyebrow morphology, High palate, Alopecia, Aplasia/Hypop... ORPHA:90153
Duane Retraction Syndrome
Cleft palate, Hypoplasia of the radius, Anorectal anomaly, Talipes equinovarus, Short palpebral f... ORPHA:233
Familial Visceral Myopathy
Cleft palate, Arachnodactyly, Micrognathia, Camptodactyly of finger, Hydroureter, Aplasia/Hypopla... ORPHA:2604
Chronic Granulomatous Disease
Macule, Malabsorption, Sinusitis, Hypermelanotic macule, Splenomegaly, Otitis media, Tracheoesoph... ORPHA:379
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Upslanted palpebra... ORPHA:1352
Autosomal Dominant Spastic Paraplegia Type 17
Split hand, Hand muscle weakness, Hand muscle atrophy ORPHA:100998
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Babinski sign, Spastic paraplegia, Progressive spastic paraplegia, Acral ulceration, Spasticity, ... ORPHA:139578
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Charcot-Marie-Tooth Disease, Axonal, Type 2E
High palate, Ulnar claw, Hammertoe, Split hand, Hypotrophy of the small hand muscles OMIM:607684
Intestinal Dysmotility Syndrome
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... OMIM:620045
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum... ORPHA:2972
Dyskeratosis Congenita
Telangiectasia of the skin, Sparse hair, Hepatic failure, Alopecia, Abnormality of the dentition,... ORPHA:1775
Peutz-Jeghers Syndrome
Bladder polyp, Bloody diarrhea, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, A... OMIM:175200
Aminopterin Syndrome Sine Aminopterin
High palate, Joint contracture of the hand, Cleft palate, Inguinal hernia, Arachnodactyly, Microg... OMIM:600325
Neu-Laxova Syndrome 2
High palate, Ablepharon, Wide intermamillary distance, Cleft palate, Micrognathia, Rocker bottom ... OMIM:616038
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynosto... ORPHA:536467
Nablus Mask-Like Facial Syndrome
High palate, Labial hypoplasia, Sparse hair, Sparse eyebrow, Craniosynostosis, Abnormality of the... OMIM:608156
Pierpont Syndrome
Prominent fingertip pads, Wide intermamillary distance, Prominent median palatal raphe, Deep plan... OMIM:602342
Acromesomelic Dysplasia 2A
Stillbirth, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia... OMIM:200700
Maternal Phenylketonuria
High palate, Micrognathia, Brachydactyly, Long philtrum, Bladder exstrophy, Abnormal renal morpho... ORPHA:2209
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Chronic furunculosis, Pyoderma gangrenosum OMIM:619986
Acrootoocular Syndrome
Dental malocclusion, Anodontia, Short toe, Supernumerary tooth, High, narrow palate, Abnormal fin... ORPHA:2980
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Ulnar deviation of the hand, Hypodontia, Alopecia, Carious teeth, Ulnar deviation of the hand or ... OMIM:612079
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Van Der Woude Syndrome 1
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Acne inversa, Short philtrum, Nail dystrophy, Natal tooth, Hypoplastic sweat glands OMIM:617337
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Hammertoe, Split hand, Distal upper limb amyotrophy OMIM:614455
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia, Absent radius OMIM:312190
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Tooth agenesis, Supernumerary tooth, Brittle hair, Aplasia/Hypoplasia of the e... ORPHA:3353
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Intestinal atresia, Bilateral talipes equinovarus, Micrognathia, Overlapping fingers, Inflammatio... OMIM:619708
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Alopecia of scalp, Anonychia, Carious teeth ORPHA:69125
Pseudopelade Of Brocq
Sparse scalp hair, Cheilitis, Alopecia, Aplasia/Hypoplasia of the eyebrow, Recurrent skin infecti... ORPHA:129
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Hypoplastic fifth toenail, Onychogryposis OMIM:131960
Free Sialic Acid Storage Disease
Ataxia, Nephrotic syndrome, Splenomegaly, Abnormal pyramidal sign, Athetosis, Iris hypopigmentati... ORPHA:834
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Absent thumb, Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopi... OMIM:602200
Meier-Gorlin Syndrome 1
High palate, Cleft palate, Hyperconvex nail, Absent glenoid fossa, Microdontia, Genu valgum, Long... OMIM:224690
Dermatoosteolysis, Kirghizian Type
Nail dysplasia, Oligodontia, Split hand, Nail dystrophy OMIM:221810
Barber-Say Syndrome
Absent nipple, High palate, Hypertrichosis, Wide mouth, Sparse eyebrow, Delayed eruption of teeth... OMIM:209885
Ganglioneuroma
Episodic abdominal pain, Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Color... ORPHA:251992
Mckusick-Kaufman Syndrome
Anal atresia, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydrometrocolpos, Hydroureter, C... OMIM:236700
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Jackson-Weiss Syndrome