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Metadata
ID DOID:0080082
Name nonsyndromic congenital nail disorder 4
Definition A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.
https://ghr.nlm.nih.gov/condition/anonychia-congenita, https://pubmed.ncbi.nlm.nih.gov/26149975/
Xrefs

GARD:12930

MESH:C536377

OMIM:206800

Alternateids

DOID:0050643

Subsets

DO_rare_slim

Synonyms

anonychia congenita [EXACT]

HYPONYCHIA CONGENITA [EXACT]

Parent Relationships

is_a nonsyndromic congenital nail disorder

is_a autosomal recessive disease

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