Abnormality of the skin

Symptom Information:

Symptom ID: HPO:0000951
Synonyms:
dermatopathy [HPO:0000951]
dermopathy [HPO:0000951]
Skin abnormality [HPO:0000951]
Skin anomaly [Orphanet:23000]
Skin Abnormalities [Orphanet:23000]
Anomalies of skin, subcutaneous tissue and mucosae [Orphanet:23000]
Skin and mucosa anomaly [Orphanet:23000]
Subcutaneous tissue anomaly [Orphanet:23000]
Mucous membrane disorder [MedDRA:10028133]
Mucosa anomaly [Orphanet:23000]
Disorder of mucous membrane (disorder) [Orphanet:23000]
Disease of mucous membrane [Orphanet:23000]
Quality:
Cross references:
HPO:0011354 "Generalized abnormality of skin" [Orphanet:23000]
Orphanet:23000 "Anomalies of skin, subcutaneous tissue and mucosae" [Orphanet:23000]
UMLS:C0037268 "Skin Abnormalities" [Orphanet:23000]
UMLS:C0151785 "Disease of mucous membrane" [Orphanet:23000]
Is a (Direct Parents):
HPO         Abnormality of the integument
HPO         Cutaneous mastocytosis
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:
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)