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loading...| Preferred Name |
Seckel syndrome 1 |
| Synonyms |
Bird-headed dwarfism |
| ID |
http://purl.bioontology.org/ontology/MESH/C537533 |
| altLabel |
Bird-headed dwarfism Nanocephalic dwarfism Microcephalic Primordial Dwarfism I Microcephalic primordial dwarfism 1 Seckel-type dwarfism |
| cui |
C4551474 |
| HM |
D004392 D019066 D008831 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D019066 |
| MDA |
20101113 |
| MeSH Frequency |
31 |
| MMR |
20150818 |
| notation |
C537533 |
| prefLabel |
Seckel syndrome 1 |
| SC |
3 |
| Scope Statement |
A rare hereditary autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with INTELLECTUAL DISABILITY, and a characteristic 'bird-headed' facial appearance. Mutations in the ATR gene have been identified. OMIM: 210600 |
| TERMUI |
T742907 T742909 T742910 T742906 T742911 T800801 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
Create New Mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0070007 | Human Disease Ontology 123 | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/210600 | Online Mendelian Inheritance in Man | LOOM |