IGSF1 deficiency syndrome
X-linked disease characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has material basis in mutation of the IGSF1 gene on chromosome Xq26
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IGSF1 deficiency syndrome
Summary
IGSF1 deficiency syndrome is a class of disease[1].
Key Facts
- IGSF1 deficiency syndrome's instance of is recorded as class of disease[2].
- IGSF1 deficiency syndrome's subclass of is recorded as central congenital hypothyroidism[3].
- IGSF1 deficiency syndrome's subclass of is recorded as X-linked recessive disease[4].
- IGSF1 deficiency syndrome's subclass of is recorded as syndrome[5].
- IGSF1 deficiency syndrome's OMIM ID is recorded as 300888[6].
- IGSF1 deficiency syndrome's KEGG ID is recorded as H02034[7].
- IGSF1 deficiency syndrome's Disease Ontology ID is recorded as DOID:0111140[8].
- IGSF1 deficiency syndrome's Orphanet ID is recorded as 329235[9].
- IGSF1 deficiency syndrome's genetic association is recorded as IGSF1[10].
- IGSF1 deficiency syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111140[11].
- IGSF1 deficiency syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111140[12].
- IGSF1 deficiency syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_329235[13].
- IGSF1 deficiency syndrome's UMLS CUI is recorded as C3550963[14].
- IGSF1 deficiency syndrome's UMLS CUI is recorded as C4749943[15].
- IGSF1 deficiency syndrome's ICD-10-CM is recorded as E03.1[16].
- IGSF1 deficiency syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- IGSF1 deficiency syndrome's Mondo ID is recorded as MONDO_0010475[18].
- IGSF1 deficiency syndrome's UniProt disease ID is recorded as DI-03629[19].