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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Hypertrichosis (D006983)
..Starting node ..Midphalangeal hair (C537471)
Child Nodes:
Sister Nodes:
..Acromegaloid facial appearance syndrome (C535655)
..Amaurosis hypertrichosis (C536604)
..Ambras syndrome (C536605)
..Barber Say syndrome (C537908)
..CAHMR syndrome (C537959)
..Cantu syndrome (C535572)
..Cervical hypertrichosis neuropathy (C537956)
..Cervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..Congenital hypertrichosis lanuginosa (C538389)
..Facial Hypertrichosis (C565029)
..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..Gorlin Chaudhry Moss syndrome (C537290)
..Hairy Ears (C562484)
..Hairy Ears, Y-Linked (C564029)
..Hairy elbows (C535618)
..Hairy nose tip (C535619)
..Hypertrichosis congenital generalized X-linked (C538388)
..Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)
..Hypertrichosis, anterior cervical (C538390)
..Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)
..Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
..Midphalangeal hair (C537471)
..Muller Barth Menger syndrome (C537370)
..Oliver-McFarlane syndrome (C536554)
..Ramon Syndrome (C535285)
..Schaap Taylor Baraitser syndrome (C536626)
..Wiedemann Grosse Dibbern syndrome (C536704)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7273

Name:

Midphalangeal hair

Definition:

Alternative IDs:

ParentIDs:

MESH:D006983

TreeNumbers:

C17.800.329.875/C537471

Synonyms:

Middigital hair

Slim Mappings:

Skin disease

Reference:

MedGen: C537471
MeSH: C537471
OMIM: 157200;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001595	Abnormal hair morphology

Disease Causing ClinVar Variants