Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
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Abnormalities, Multiple (D000015)
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Craniofacial Abnormalities (D019465)
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Ductus Arteriosus, Patent (D004374)
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Hypertrichosis (D006983)
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Gorlin Chaudhry Moss syndrome (C537290)

       Child Nodes:



 Sister Nodes: 
..expandAcromegaloid facial appearance syndrome (C535655)
..expandAmaurosis hypertrichosis (C536604)
..expandAmbras syndrome (C536605)
..expandBarber Say syndrome (C537908)
..expandCAHMR syndrome (C537959)
..expandCantu syndrome (C535572)
..expandCervical hypertrichosis neuropathy (C537956)
..expandCervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..expandCongenital hypertrichosis lanuginosa (C538389)
..expandFacial Hypertrichosis (C565029)
..expandFibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..expandGorlin Chaudhry Moss syndrome (C537290)
..expandHairy Ears (C562484)
..expandHairy Ears, Y-Linked (C564029)
..expandHairy elbows (C535618)
..expandHairy nose tip (C535619)
..expandHypertrichosis congenital generalized X-linked (C538388)
..expandHypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)
..expandHypertrichosis, anterior cervical (C538390)
..expandHypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)
..expandHypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
..expandMidphalangeal hair (C537471)
..expandMuller Barth Menger syndrome (C537370)
..expandOliver-McFarlane syndrome (C536554)
..expandRamon Syndrome (C535285)
..expandSchaap Taylor Baraitser syndrome (C536626)
..expandWiedemann Grosse Dibbern syndrome (C536704)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:4772
Name:Gorlin Chaudhry Moss syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D004374|MESH:D006983|MESH:D019465
TreeNumbers:C05.660.207/C537290 |C14.240.400.340/C537290 |C14.280.400.340/C537290 |C16.131.077/C537290 |C16.131.240.400.340/C537290 |C16.131.621.207/C537290 |C17.800.329.875/C537290
Synonyms:Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies |GCM syndrome |Gorlin-Chaudhry-Moss syndrome
Slim Mappings:Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Skin disease
Reference: MedGen: C537290
MeSH: C537290
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants