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Metadata
ID DOID:14743
Name trichorhinophalangeal syndrome type I
Definition An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).
http://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract
Xrefs

MESH:C536820

NCI:C75109

OMIM:190350

UMLS_CUI:C0432233

Alternateids

DOID:0050552

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Trichorhinophalangeal dysplasia type I [RELATED]

trichorhinophalangeal syndrome type 1 [EXACT]

type I trichorhinophalangeal syndrome [EXACT]

Parent Relationships

is_a autosomal dominant disease

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