brain-lung-thyroid syndrome
rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)
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brain-lung-thyroid syndrome
Summary
brain-lung-thyroid syndrome is a rare disease[1].
Key Facts
- brain-lung-thyroid syndrome's instance of is recorded as rare disease[2].
- brain-lung-thyroid syndrome's instance of is recorded as class of disease[3].
- brain-lung-thyroid syndrome's subclass of is recorded as syndromic hypothyroidism[4].
- brain-lung-thyroid syndrome's subclass of is recorded as genetic syndromic intellectual disability[5].
- brain-lung-thyroid syndrome's subclass of is recorded as neurodegenerative disease with chorea[6].
- brain-lung-thyroid syndrome's subclass of is recorded as primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies[7].
- brain-lung-thyroid syndrome's MeSH descriptor ID is recorded as C567034[8].
- brain-lung-thyroid syndrome's OMIM ID is recorded as 610978[9].
- brain-lung-thyroid syndrome's KEGG ID is recorded as H00913[10].
- brain-lung-thyroid syndrome's Orphanet ID is recorded as 209905[11].
- brain-lung-thyroid syndrome's NCI Thesaurus ID is recorded as C202546[12].
- brain-lung-thyroid syndrome's genetic association is recorded as NKX2-1[13].
- brain-lung-thyroid syndrome's Google Knowledge Graph ID is recorded as /g/11h9bnddbg[14].
- brain-lung-thyroid syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_209905[15].
- brain-lung-thyroid syndrome's UMLS CUI is recorded as C1970270[16].
- brain-lung-thyroid syndrome's UMLS CUI is recorded as C1970269[17].
- brain-lung-thyroid syndrome's ICD-10-CM is recorded as E03.1[18].
- brain-lung-thyroid syndrome's GARD rare disease ID is recorded as 12163[19].
- brain-lung-thyroid syndrome's Mondo ID is recorded as MONDO_0012593[20].
- brain-lung-thyroid syndrome's ICD-11 ID is recorded as CB04.5[21].
- brain-lung-thyroid syndrome's ICD-11 ID is recorded as 809856670[22].
- brain-lung-thyroid syndrome's UniProt disease ID is recorded as DI-01345[23].