| 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 |
| Ectrodactyly-Polydactyly |
|
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 |
| Syngnathia |
|
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 |
| Anonychia-Ectrodactyly |
|
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 |
| Acheiropody |
|
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 |
| Acheiropodia |
|
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 |
| Pseudoachondroplasia |
|
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 |
| Dermatoleukodystrophy |
|
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 |
| Elastoderma |
|
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 |
| Hypoplasminogenemia |
|
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 |
| Malakoplakia |
|
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 |
| Dracunculiasis |
|
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 |
| Diphallia |
|
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 |
| Dermatoleukodystrophy |
|
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 |
|
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 |
| Ganglioneuroma |
|
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 |
| Hypoglossia-Hypodactylia |
|
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 |
| Monilethrix |
|
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 |
|
