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Hirschsprung disease-type D brachydactyly syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Hirschsprung disease-type D brachydactyly syndrome
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Accession:EFO:MONDO:0016294 term browser browse the term
Definition:Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.
Synonyms:exact_synonym: Orphanet:2150;   http://identifiers.org/medgen/375339;   http://identifiers.org/mesh/C538319;   http://linkedlifedata.com/resource/umls/id/C1844017;   https://omim.org/entry/306980
 related_synonym: Hirschsprung disease type d brachydactyly;   Hirschsprung disease with type D brachydactyly;   familial Hirschsprung's disease and type D brachydactyly
 alt_id: MONDO:0016294
 xref: GARD:2700;   MEDGEN:375339;   MESH:C538319;   MIM:306980;   ORDO:2150;   UMLS:C1844017

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            Hirschsprung disease-type D brachydactyly syndrome 0
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              multiple congenital anomalies/dysmorphic syndrome 0
                multiple congenital anomalies/dysmorphic syndrome without intellectual disability 0
                  Hirschsprung disease-type D brachydactyly syndrome 0
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