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MIRAGE
infantile hypophosphatasia
Summary
- Synonym
-
- HOPS
- HPPI
- phosphoethanolaminuria
- Definition
- A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
- Super Class
- hypophosphatasia
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q3TJD3 | Alkaline phosphatase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11491 | Repressible alkaline phosphatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000121 | Nephrocalcinosis |
| HP:0000164 | Abnormality of the dentition |
| HP:0000592 | Blue sclerae |
| HP:0000737 | Irritability |
| HP:0000773 | Short ribs |
| HP:0000897 | Rachitic rosary |
| HP:0000926 | Platyspondyly |
| HP:0001024 | Skin dimple over apex of long bone angulation |
| HP:0001250 | Seizure |
