About: cartilage-hair hypoplasia

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About: cartilage-hair hypoplasia Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease ectodermal dysplasia nodeID://b50949768
label	cartilage-hair hypoplasia
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:14773
has_alternative_id	DOID:0080022
database_cross_reference	MESH:C535916 NCI:C61245 OMIM:250250 SNOMEDCT_US_2021_09_01:234421004 UMLS_CUI:C0220748
has_exact_synonym	CHH (en) McKusick type metaphyseal chondrodysplasia (en) Metaphyseal chondrodysplasia, McKusick type (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in RMRP on chromosome 9p13.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50949769

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