Mucopolysaccharidosis I
Disease ID: disease_node_4775
Connections displayed (default: 10).
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| Dbxref | GARD:12560, ICD10CM:E76.02, MESH:D008059, MIM:607015, NCI:C122782, ORDO:93476, SNOMEDCT_US_2023_03_01:26745009, UMLS_CUI:C0086431 |
|---|---|
| Subclassof | DOID_12802, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | MPS1H/S, MPSIH/S, Mucopolysaccharidosis type 1H/S |
| Mesh Id | D008059 |
| Mesh Label | Mucopolysaccharidosis I |
| Disease Has Feature | DOID_0060321 |
| Mesh Subclassof | D009083 |
| Doid Label | mucopolysaccharidosis Ih/s |
| Doid Description | A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. |
| Has Symptom | SYMP_0000234, SYMP_0000568, SYMP_0000047 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_4775 |
| Doid Id | DOID_0111389 |
| Label | Mucopolysaccharidosis I |
- Outgoing r'ship
HAS_SYMPTOMto/from Short Stature(ID:disease_node_21459) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Cloudy Cornea(ID:disease_node_21729) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Hepatosplenomegaly(ID:disease_node_20956) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)