loading...| Preferred Name |
HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21 |
| ID |
http://purl.bioontology.org/ontology/OMIM/614207 |
| altLabel |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21 GPIBD8 MRT21 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17 MRT17 HPMRS3 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8 |
| cui |
C3280153 |
| Gene Locus |
11p15.5 |
| Gene Symbol |
MRT21 HPMRS3 MRT17 FRAG1 PGAP2 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU035844 http://purl.bioontology.org/ontology/OMIM/MTHU000324 http://purl.bioontology.org/ontology/OMIM/MTHU069243 http://purl.bioontology.org/ontology/OMIM/MTHU036517 http://purl.bioontology.org/ontology/OMIM/MTHU038541 http://purl.bioontology.org/ontology/OMIM/MTHU033932 http://purl.bioontology.org/ontology/OMIM/MTHU005671 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU010284 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU005117 http://purl.bioontology.org/ontology/OMIM/MTHU004401 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000199 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
614207 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3 |
| Scope Statement |
Onset at birth [MISCELLANEOUS] Most patients are severely affected [MISCELLANEOUS] Caused by mutation in the post-GPI attachment to proteins 2 gene (PGAP2, 615187.0001) [MOLECULAR BASIS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0070435 | Human Disease Ontology / 人类疾病本体 | LOOM |