loading...| Preferred Name |
Cohen syndrome |
| Synonyms |
Retinopathy pigmentary mental retardation |
| ID |
http://purl.bioontology.org/ontology/MESH/C536438 |
| altLabel |
Retinopathy pigmentary mental retardation Prominent Incisors-Obesity-Hypotonia Syndrome Norio Syndrome Pepper syndrome Obesity-Hypotonia Syndrome Hypotonia, Obesity, and Prominent Incisors Retinopathy, Pigmentary, And Mental Retardation Mirhosseini-Holmes-Walton syndrome |
| cui |
C0265223 C0796072 |
| Has mapping qualifier | |
| HM |
D012162 D009765 D008607 D005385/Q000002 D008831 D009123 D002658 D009216 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D012162 http://purl.bioontology.org/ontology/MESH/D009765 http://purl.bioontology.org/ontology/MESH/D009123 http://purl.bioontology.org/ontology/MESH/D008607 http://purl.bioontology.org/ontology/MESH/D008831 http://purl.bioontology.org/ontology/MESH/D009216 |
| MDA |
20100825 |
| MeSH Frequency |
60 |
| MMR |
20190701 |
| notation |
C536438 |
| prefLabel |
Cohen syndrome |
| SC |
3 |
| Scope Statement |
A rare autosomal recessive disorder that occurs primarily in the Finnish population where it is characterized by non-progressive mild to severe psychomotor retardation, microcephaly, characteristic facial features (high-arched or wave-shaped eyelids, a short lip, thick hair, and low hairline), childhood hypotonia and joint laxity, progressive retinochoroidal dystrophy, myopia, intermittent isolated NEUTROPENIA, and a cheerful disposition. Obesity, retinochoroidal dystrophy, and neutropenia are far less common in non-Finnish patients. Mutations in the VPS13B gene have been identified. OMIM: 216550 |
| TERMUI |
T824900 T745586 T802168 T739336 T841134 T841132 T739338 T745587 T841133 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 T047 |