Abnormality of the skin
Symptom Information:
Symptom ID: | HPO:0000951 | ||||||||||||
Synonyms: |
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Quality: | |||||||||||||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the integument(HPO:0001574) Abnormality of the skin(HPO:0000951) MedDRA: |
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Database Frequency: | 147 / 7739 | ||||||||||||
Resource: |
All diseases associated with this symptom:
1p36 deletion syndrome | (Orphanet:1606) |
ACROMIAL DIMPLES | (OMIM:102350) |
AICA-ribosiduria | (Orphanet:250977) |
AMYLOIDOSIS, CUTANEOUS BULLOUS | (OMIM:204900) |
ARTERIOSCLEROSIS, SEVERE JUVENILE | (OMIM:208060) |
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY | (OMIM:208750) |
ATROPHIA MACULOSA VARIOLIFORMIS CUTIS, FAMILIAL | (OMIM:601341) |
Acrodermatitis enteropathica, zinc deficiency type | (Orphanet:37) |
Acrogeria | (Orphanet:2500) |
Alpha-mannosidosis | (Orphanet:61) |
Alveolar echinococcosis | (Orphanet:284) |
Angioma serpiginosum | (Orphanet:95429) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Ataxia-telangiectasia | (Orphanet:100) |
Autosomal dominant hyper-IgE syndrome | (Orphanet:2314) |
Autosomal recessive deafness-onychodystrophy syndrome | (Orphanet:79500) |
Bloom syndrome | (Orphanet:125) |
Bullous systemic lupus erythematosus | (Orphanet:46489) |
CADASIL | (Orphanet:136) |
CAMOS syndrome | (Orphanet:83472) |
CARBOXYPEPTIDASE N DEFICIENCY | (OMIM:212070) |
CIRCUMVALLATE PLACENTA SYNDROME | (OMIM:215550) |
COMEDONES, FAMILIAL DYSKERATOTIC | (OMIM:120450) |
CREST syndrome | (Orphanet:90290) |
Chronic mucocutaneous candidiasis | (Orphanet:1334) |
Cleft palate - large ears - small head | (Orphanet:2013) |
Congenital hypothyroidism due to developmental anomaly | (Orphanet:95711) |
Costello syndrome | (Orphanet:3071) |
Curry-Jones syndrome | (Orphanet:1553) |
Cutis gyrata - acanthosis nigricans - craniosynostosis | (Orphanet:1555) |
Cutis laxa | (Orphanet:209) |
Cutis marmorata telangiectatica congenita | (Orphanet:1556) |
DERMAL RIDGES, NELSON SYNDROME | (OMIM:125530) |
DERMAL RIDGES, PATTERNLESS | (OMIM:125540) |
DERMATOGLYPHICS--FINGERPRINT PATTERN | (OMIM:125590) |
DERMATOSIS PAPULOSA NIGRA | (OMIM:125600) |
DNA DAMAGE-BINDING PROTEIN 1 | (OMIM:600045) |
De Barsy syndrome | (Orphanet:2962) |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | (Orphanet:2229) |
Dyskeratosis congenita | (Orphanet:1775) |
ECTRODACTYLY-CLEFT PALATE SYNDROME | (OMIM:129830) |
Ehlers-Danlos syndrome type 7B | (Orphanet:99876) |
Ehlers-Danlos syndrome, arthrochalasic type | (Orphanet:1899) |
Ehlers-Danlos syndrome, classic type | (Orphanet:287) |
Ehlers-Danlos syndrome, dermatosparaxis type | (Orphanet:1901) |
Ehlers-Danlos syndrome, hypermobility type | (Orphanet:285) |
Ehlers-Danlos syndrome, vascular type | (Orphanet:286) |
Epidermolysis bullosa simplex, Dowling-Meara type | (Orphanet:79396) |
FASCIAL DYSTROPHY, CONGENITAL | (OMIM:228020) |
FLUSHING OF EARS AND SOMNOLENCE | (OMIM:136200) |
FUTCHER LINE | (OMIM:137000) |
Familial generalized lentiginosis | (Orphanet:231040) |
Familial partial lipodystrophy, Dunnigan type | (Orphanet:2348) |
Familial reactive perforating collagenosis | (Orphanet:79147) |
Familial symmetric lipomatosis | (Orphanet:2398) |
Fatal infantile lactic acidosis with methylmalonic aciduria | (Orphanet:17) |
Follicular lymphoma | (Orphanet:545) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
GM1 gangliosidosis | (Orphanet:354) |
Gaucher disease type 2 | (Orphanet:77260) |
Gingival fibromatosis - facial dysmorphism | (Orphanet:2025) |
Glomuvenous malformation | (Orphanet:83454) |
HAMARTOMA, PRECALCANEAL CONGENITAL FIBROLIPOMATOUS | (OMIM:609808) |
HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS | (OMIM:144300) |
Hereditary cerebral cavernous malformation | (Orphanet:221061) |
Hereditary hypercarotenemia and vitamin A deficiency | (Orphanet:199285) |
Hereditary painful callosities | (Orphanet:79141) |
Hereditary sensory and autonomic neuropathy type 1 | (Orphanet:36386) |
Hereditary thrombophilia due to congenital protein S deficiency | (Orphanet:743) |
Hurler syndrome | (Orphanet:93473) |
Hyaluronidase deficiency | (Orphanet:67041) |
Hydatidosis | (Orphanet:400) |
Hypercalcemic tumoral calcinosis | (Orphanet:306661) |
Hypocalcemic vitamin D-resistant rickets | (Orphanet:93160) |
Hypoplasminogenemia | (Orphanet:722) |
Hypothyroidism due to TSH receptor mutations | (Orphanet:90673) |
INSECT STINGS, HYPERSENSITIVITY TO | (OMIM:147540) |
Ichthyosis-hypotrichosis syndrome | (Orphanet:91132) |
Inherited epidermolysis bullosa | (Orphanet:79361) |
Intellectual deficit, Wolff type | (Orphanet:3080) |
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
Intellectual deficit, X-linked - seizures - psoriasis | (Orphanet:3052) |
Intellectual deficit, X-linked, Miles-Carpenter type | (Orphanet:85283) |
KERATOSIS, FAMILIAL ACTINIC | (OMIM:148390) |
KYRLE DISEASE | (OMIM:149500) |
Keratosis palmaris et plantaris - clinodactyly | (Orphanet:86919) |
LEG ULCERS, FAMILIAL, OF JUVENILE ONSET | (OMIM:150590) |
LENTIGINOSIS, CENTROFACIAL NEURODYSRAPHIC | (OMIM:151000) |
LIG4 syndrome | (Orphanet:99812) |
LOC syndrome | (Orphanet:2407) |
Lateral meningocele syndrome | (Orphanet:2789) |
Leprechaunism | (Orphanet:508) |
Limited cutaneous systemic sclerosis | (Orphanet:220402) |
Lipoid proteinosis | (Orphanet:530) |
Localized scleroderma | (Orphanet:90289) |
MARFANOID HYPERMOBILITY SYNDROME | (OMIM:154750) |
METAPHYSEAL MODELING ABNORMALITY, SKIN LESIONS, AND SPASTIC PARAPLEGIA | (OMIM:250500) |
MOVED TO 143890 | (OMIM:144400) |
Muckle-Wells syndrome | (Orphanet:575) |
Mucopolysaccharidosis type 2, attenuated form | (Orphanet:217093) |
Multiple benign circumferential skin creases on limbs | (Orphanet:2505) |
Multiple carboxylase deficiency | (Orphanet:148) |
Multiple endocrine neoplasia type 2B | (Orphanet:247709) |
Multiple keratoacanthoma, Ferguson-Smith type | (Orphanet:65748) |
NODULI CUTANEI, MULTIPLE, WITH URINARY TRACT ABNORMALITIES | (OMIM:163850) |
Nasal dermoid cyst | (Orphanet:141103) |
Neu-Laxova syndrome | (Orphanet:2671) |
Neurofibromatosis type 3 | (Orphanet:93921) |
Nevus comedonicus syndrome | (Orphanet:64754) |
Normocalcemic tumoral calcinosis | (Orphanet:306658) |
OSTEOGENESIS IMPERFECTA, TYPE XI | (OMIM:610968) |
PAPILLOMATOSIS, FLORID, OF NIPPLE | (OMIM:167950) |
PERIODONTITIS, AGGRESSIVE, 1 | (OMIM:170650) |
PIGMENTED PURPURIC ERUPTION | (OMIM:172900) |
PILONIDAL SINUS | (OMIM:173000) |
PRENATAL BOWING | (OMIM:264050) |
PSEUDOATROPHODERMA COLLI | (OMIM:177350) |
Parana hard-skin syndrome | (Orphanet:2812) |
Partial acquired lipodystrophy | (Orphanet:79087) |
Patella aplasia/hypoplasia | (Orphanet:86789) |
Paternal 20q13.2q13.3 microdeletion syndrome | (Orphanet:261304) |
Pediatric systemic lupus erythematosus | (Orphanet:93552) |
Poland syndrome | (Orphanet:2911) |
Polyarteritis nodosa, childhood-onset | (OMIM:615688) |
Polyvalvular heart disease syndrome | (Orphanet:228410) |
Progressive osseous heteroplasia | (Orphanet:2762) |
Prune belly syndrome | (Orphanet:2970) |
Pseudoxanthoma elasticum | (Orphanet:758) |
Punctate palmoplantar keratoderma type 1 | (Orphanet:79501) |
Pycnodysostosis | (Orphanet:763) |
Rare lichen planus | (Orphanet:254367) |
Rosaï-Dorfman disease | (Orphanet:158014) |
SEBACEOUS GLAND HYPERPLASIA, FAMILIAL PRESENILE | (OMIM:601700) |
SIMOSA CRANIOFACIAL SYNDROME | (OMIM:182150) |
SYRINGOMAS, MULTIPLE | (OMIM:186600) |
Scalp-ear-nipple syndrome | (Orphanet:2036) |
Scleroderma | (Orphanet:801) |
Short stature - webbed neck - heart disease | (Orphanet:2865) |
Spondyloepimetaphyseal dysplasia - abnormal dentition | (Orphanet:168451) |
Spondyloepimetaphyseal dysplasia, Geneviève type | (Orphanet:168454) |
TINEA IMBRICATA, SUSCEPTIBILITY TO | (OMIM:275240) |
TRICHILEMMAL CYST 1 | (OMIM:609649) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Tyrosinemia type 2 | (Orphanet:28378) |
X-linked Ehlers-Danlos syndrome | (Orphanet:75497) |
X-linked severe congenital neutropenia | (Orphanet:86788) |
[DEL] URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 | (OMIM:138900) |