About: split hand-foot malformation

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

Attributes	Values
type	Class
subClassOf	bone development disease nodeID://b50942066
label	split hand-foot malformation
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090020
database_cross_reference	GARD:6319 ICD10CM:Q71.6 ICD9CM:755.58 MESH:C574275 OMIM:PS183600 ORDO:2440 SNOMEDCT_US_2021_09_01:81208006 UMLS_CUI:C0265554
has_exact_synonym	lobster-claw deformity (en) split-hand deformity (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.
is subClassOf of	split hand-foot malformation 1 split hand-foot malformation 5 split hand-foot malformation 4 split hand-foot malformation 1 with sensorineural hearing loss split hand-foot malformation 3 split hand-foot malformation 6 split hand-foot malformation 2
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942070

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