trichorhinophalangeal syndrome type I
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)
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trichorhinophalangeal syndrome type I
Summary
trichorhinophalangeal syndrome type I is a class of disease[1].
Key Facts
- trichorhinophalangeal syndrome type I's instance of is recorded as class of disease[2].
- trichorhinophalangeal syndrome type I's subclass of is recorded as autosomal dominant disease[3].
- trichorhinophalangeal syndrome type I's subclass of is recorded as Tricho–rhino–phalangeal syndrome[4].
- trichorhinophalangeal syndrome type I's subclass of is recorded as syndrome[5].
- trichorhinophalangeal syndrome type I's MeSH descriptor ID is recorded as C536820[6].
- trichorhinophalangeal syndrome type I's Disease Ontology ID is recorded as DOID:14743[7].
- trichorhinophalangeal syndrome type I's Orphanet ID is recorded as 77258[8].
- trichorhinophalangeal syndrome type I's NCI Thesaurus ID is recorded as C75109[9].
- trichorhinophalangeal syndrome type I's genetic association is recorded as TRPS1[10].
- trichorhinophalangeal syndrome type I's exact match is recorded as http://purl.obolibrary.org/obo/DOID_14743[11].
- trichorhinophalangeal syndrome type I's exact match is recorded as http://identifiers.org/doid/DOID:14743[12].
- trichorhinophalangeal syndrome type I's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_77258[13].
- trichorhinophalangeal syndrome type I's UMLS CUI is recorded as C0432233[14].
- trichorhinophalangeal syndrome type I's ICD-10-CM is recorded as Q87.1[15].
- trichorhinophalangeal syndrome type I's GARD rare disease ID is recorded as 7800[16].
- trichorhinophalangeal syndrome type I's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- trichorhinophalangeal syndrome type I's Mondo ID is recorded as MONDO_0019176[18].