Igsf1 Deficiency Syndrome
Disease ID: disease_node_20251
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E03.1, MIM:300888, ORDO:329235 |
|---|---|
| Subclassof | DOID_0080012, DOID_225 |
| Data Source | DOID |
| Synonyms | CHTE, X-linked central congenital hypothyroidism with late-onset macroorchidism, X-linked central congenital hypothyroidism with late-onset testicular enlargement, central hypothyroidism and testicular enlargement |
| Doid Label | IGSF1 deficiency syndrome |
| Doid Description | A syndrome 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20251 |
| Doid Id | DOID_0111140 |
| Label | Igsf1 Deficiency Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)