Abnormality of skin pigmentation

Symptom Information:

Symptom ID: HPO:0001000
Synonyms:
Abnormal pigmentation [HPO:0001000]
Abnormal skin pigmentation [HPO:0001000]
Abnormality of pigmentation [HPO:0001000]
Pigmentary changes [HPO:0001000]
Pigmentary skin changes [HPO:0001000]
Pigmentation [HPO:0001000]
Pigmentation anomaly [HPO:0001000]
Skin pigmentation anomaly [Orphanet:23500]
Skin pigmentation (finding) [Orphanet:23500]
Disorder of skin pigmentation (disorder) [Orphanet:23500]
Skin Pigmentation Disorder [Orphanet:23500]
Skin pigmentation - finding [Orphanet:23500]
Abnormal pigmentation [OMIM:Abnormal pigmentation]
Pigmentary changes [OMIM:Pigmentary changes]
Pigmentary skin changes [OMIM:Pigmentary skin changes]
Pigmentation [OMIM:Pigmentation]
Abnormal pigmentary skin changes/skin pigmentation anomalies [Orphanet:23500]
Skin pigmentation [OMIM:Skin pigmentation]
Quality:
Cross references:
Orphanet:23500 "Abnormal pigmentary skin changes/skin pigmentation anomalies" [Orphanet:23500]
OMIM: "Abnormal pigmentation" [OMIM:Abnormal pigmentation]
OMIM: "Pigmentary changes" [OMIM:Pigmentary changes]
OMIM: "Pigmentary skin changes" [OMIM:Pigmentary skin changes]
OMIM: "Pigmentation" [OMIM:Pigmentation]
OMIM: "Skin pigmentation" [OMIM:Skin pigmentation]
UMLS:C1704421 "Skin Pigmentation Disorder" [Orphanet:23500]
UMLS:C1269684 "Skin pigmentation - finding" [Orphanet:23500]
Is a (Direct Parents):
HPO         Abnormality of skin morphology
Orphanet Abnormality of the skin
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:
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)