| 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 |
|
