COACH Syndrome
a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.
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COACH Syndrome
Summary
COACH Syndrome is a class of disease[1]. It draws 13 Wikipedia views per month (class_of_disease category, ranking #620 of 1,968).[2]
Key Facts
- COACH Syndrome's instance of is recorded as class of disease[3].
- COACH Syndrome's subclass of is recorded as syndrome[4].
- COACH Syndrome's subclass of is recorded as Joubert syndrome[5].
- COACH Syndrome's subclass of is recorded as Joubert syndrome and related disorders[6].
- COACH Syndrome's subclass of is recorded as autosomal recessive disease[7].
- COACH Syndrome's MeSH descriptor ID is recorded as C536430[8].
- COACH Syndrome's OMIM ID is recorded as 216360[9].
- COACH Syndrome's KEGG ID is recorded as H01001[10].
- COACH Syndrome's Disease Ontology ID is recorded as DOID:0111589[11].
- COACH Syndrome's Orphanet ID is recorded as 1454[12].
- COACH Syndrome's health specialty is recorded as medical genetics[13].
- COACH Syndrome's genetic association is recorded as CC2D2A[14].
- COACH Syndrome's genetic association is recorded as RPGRIP1L[15].
- COACH Syndrome's genetic association is recorded as TMEM67[16].
- COACH Syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1454[17].
- COACH Syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111589[18].
- COACH Syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111589[19].
- COACH Syndrome's UMLS CUI is recorded as C1857662[20].
- COACH Syndrome's ICD-10-CM is recorded as Q04.3[21].
- COACH Syndrome's GARD rare disease ID is recorded as 1410[22].
- COACH Syndrome's Mondo ID is recorded as MONDO_0008996[23].
- COACH Syndrome's Microsoft Academic ID is recorded as 2780987395[24].
- COACH Syndrome's WikiProjectMed ID is recorded as COACH syndrome[25].
- COACH Syndrome's UniProt disease ID is recorded as DI-02835[26].
Why It Matters
COACH Syndrome draws 13 Wikipedia views per month (class_of_disease category, ranking #620 of 1,968).[2] It is known by 10 alternative names across languages and contexts.[27]