About: popliteal pterygium syndrome

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

NT MGI.

Attributes	Values
type	Class
subClassOf	autosomal dominant disease syndrome nodeID://b50938157
label	popliteal pterygium syndrome
comment	NT MGI.
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060055
created_by	emitraka
creation_date	2015-02-04T14:16:39Z
database_cross_reference	GARD:3242 MESH:C562509 NCI:C118786 OMIM:119500 OMIM:263650 ORDO:1300 ORDO:294963 SNOMEDCT_US_2021_09_01:205820002 UMLS_CUI:C0265259
has_exact_synonym	facio-genito-popliteal syndrome (en) popliteal web syndrome (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938158

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