Abnormality of skin pigmentation
Symptom Information:
Symptom ID: | HPO:0001000 | ||||||||||||||||||
Synonyms: |
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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) Generalized abnormality of skin(HPO:0011354) Abnormality of skin morphology(HPO:0011121) Abnormality of skin pigmentation(HPO:0001000) MedDRA: |
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Database Frequency: | 105 / 7739 | ||||||||||||||||||
Resource: |
All diseases associated with this symptom:
12q14 microdeletion syndrome | (Orphanet:94063) |
3q29 microdeletion syndrome | (Orphanet:65286) |
Ablepharon macrostomia syndrome | (Orphanet:920) |
Aggressive systemic mastocytosis | (Orphanet:98850) |
Aicardi syndrome | (Orphanet:50) |
Alkaptonuria | (Orphanet:56) |
Autosomal dominant hypohidrotic ectodermal dysplasia | (Orphanet:1810) |
Autosomal dominant palmoplantar keratoderma and congenital alopecia | (Orphanet:1010) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Berardinelli-Seip congenital lipodystrophy | (Orphanet:528) |
Bullous diffuse cutaneous mastocytosis | (Orphanet:280785) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
COCKAYNE SYNDROME, TYPE III | (OMIM:216411) |
CONE-ROD DYSTROPHY 10 | (OMIM:610283) |
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE I/IIx | (OMIM:212067) |
Carney complex | (Orphanet:1359) |
Cholestasis - lymphedema | (Orphanet:1414) |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | (Orphanet:90794) |
Cockayne syndrome | (Orphanet:191) |
Congenital lipoid adrenal hyperplasia due to STAR deficency | (Orphanet:90790) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
Cronkhite-Canada syndrome | (Orphanet:2930) |
Cutaneous mastocytoma | (Orphanet:79455) |
Cutaneous mastocytosis | (Orphanet:66646) |
Cytomegalic congenital adrenal hypoplasia | (Orphanet:95702) |
DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES | (OMIM:300719) |
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 | (OMIM:613988) |
Darier disease | (Orphanet:218) |
De Barsy syndrome | (Orphanet:2962) |
Diffuse cutaneous mastocytosis | (Orphanet:79456) |
Dubowitz syndrome | (Orphanet:235) |
Ectodermal dysplasia - blindness | (Orphanet:1806) |
Ectodermal dysplasia syndrome | (Orphanet:79373) |
Ehlers-Danlos syndrome, periodontitis type | (Orphanet:75392) |
Ehlers-Danlos syndrome, progeroid type | (Orphanet:75496) |
Ehlers-Danlos syndrome, vascular type | (Orphanet:286) |
Epidermolysis bullosa simplex | (Orphanet:304) |
Epidermolysis bullosa simplex with circinate migratory erythema | (Orphanet:158681) |
Epidermolysis bullosa simplex with mottled pigmentation | (Orphanet:79397) |
Epidermolysis bullosa simplex, Dowling-Meara type | (Orphanet:79396) |
Erythrokeratoderma \"en cocardes\" | (Orphanet:315) |
FANCONI ANEMIA, COMPLEMENTATION GROUP A | (OMIM:227650) |
FANCONI ANEMIA, COMPLEMENTATION GROUP C | (OMIM:227645) |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | (OMIM:227646) |
FANCONI ANEMIA, COMPLEMENTATION GROUP E | (OMIM:600901) |
Familial cutaneous collagenoma | (Orphanet:53296) |
Fanconi anemia | (Orphanet:84) |
Focal dermal hypoplasia | (Orphanet:2092) |
Free sialic acid storage disease | (Orphanet:834) |
Gaucher disease | (Orphanet:355) |
Gaucher disease type 1 | (Orphanet:77259) |
HYPOADRENOCORTICISM, FAMILIAL | (OMIM:240200) |
Hemochromatosis type 2 | (Orphanet:79230) |
Hennekam-Beemer syndrome | (Orphanet:2135) |
Hereditary thrombophilia due to congenital protein C deficiency | (Orphanet:745) |
Hereditary thrombophilia due to congenital protein S deficiency | (Orphanet:743) |
Homocarnosinosis | (Orphanet:2168) |
Hurler syndrome | (Orphanet:93473) |
Hutchinson-Gilford progeria syndrome | (Orphanet:740) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hypertrichosis lanuginosa congenita | (Orphanet:2222) |
Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia | (Orphanet:1882) |
Incontinentia pigmenti | (Orphanet:464) |
Indolent systemic mastocytosis | (Orphanet:98848) |
Junctional epidermolysis bullosa, non-Herlitz type | (Orphanet:89840) |
Kindler syndrome | (Orphanet:2908) |
Large congenital melanocytic nevus | (Orphanet:626) |
Lichen amyloidosis | (Orphanet:49804) |
Limited cutaneous systemic sclerosis | (Orphanet:220402) |
Lipodystrophy due to peptidic growth factors deficiency | (Orphanet:1979) |
Lymphangioleiomyomatosis | (Orphanet:538) |
Maculopapular cutaneous mastocytosis | (Orphanet:79457) |
Mandibuloacral dysplasia | (Orphanet:2457) |
Mandibuloacral dysplasia with type A lipodystrophy | (Orphanet:90153) |
Mastocytosis | (Orphanet:98292) |
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen | (Orphanet:251279) |
Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
Minimal pigment oculocutaneous albinism type 1 | (Orphanet:352734) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Oculocutaneous albinism type 2 | (Orphanet:79432) |
Oculocutaneous albinism type 3 | (Orphanet:79433) |
Pantothenate kinase-associated neurodegeneration | (Orphanet:157850) |
Pearson syndrome | (Orphanet:699) |
Porokeratosis | (Orphanet:79358) |
Porphyria | (Orphanet:738) |
Progeria - short stature - pigmented nevi | (Orphanet:2959) |
Proteus syndrome | (Orphanet:744) |
RETINITIS PIGMENTOSA 35 | (OMIM:610282) |
RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS | (OMIM:268010) |
Retinohepatoendocrinologic syndrome | (Orphanet:3087) |
Rotor syndrome | (Orphanet:3111) |
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11 | (OMIM:612271) |
SRD5A3-CDG | (Orphanet:324737) |
Scleroderma | (Orphanet:801) |
Systemic sclerosis | (Orphanet:90291) |
Terminal osseous dysplasia - pigmentary defects | (Orphanet:88630) |
Tietz syndrome | (Orphanet:42665) |
Tricho-oculo-dermo-vertebral syndrome | (Orphanet:3354) |
Tufted angioma | (Orphanet:1063) |
Waardenburg syndrome | (Orphanet:3440) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
Xeroderma pigmentosum variant | (Orphanet:90342) |
Xeroderma pigmentosum/Cockayne syndrome complex | (Orphanet:220295) |