loading...| Preferred Name |
Hoyeraal Hreidarsson syndrome |
| Synonyms |
Hoyeraal-Hreidarsson Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C536068 |
| altLabel |
Hoyeraal-Hreidarsson Syndrome Cerebellar hypoplasia with pancytopenia |
| cui |
C1846142 |
| HM |
D008607 D005317 D008831 D019871 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D005317 http://purl.bioontology.org/ontology/MESH/D008607 |
| MDA |
20100825 |
| MeSH Frequency |
43 |
| MMR |
20150818 |
| notation |
C536068 |
| prefLabel |
Hoyeraal Hreidarsson syndrome |
| SC |
3 |
| Scope Statement |
A severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation; MICROCEPHALY; DEVELOPMENTAL DISABILITIES, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood. Caused by mutations in the DKC1 gene. OMIM: 305000 |
| TERMUI |
T738145 T805121 T738143 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |