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loading...| Preferred Name |
Chromosome 9p Deletion Syndrome |
| Synonyms |
Deletion 9p |
| ID |
http://purl.bioontology.org/ontology/MESH/C538024 |
| altLabel |
Deletion 9p Monosomy 9p Syndrome Chromosome 9, monosomy 9p Deletion 9p Syndrome Monosomy 9p |
| cui |
C5200298 C0795830 |
| HM |
D002899 D002872 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
25 |
| MMR |
20190620 |
| notation |
C538024 |
| prefLabel |
Chromosome 9p Deletion Syndrome |
| SC |
3 |
| Scope Statement |
An autosomal dominant abnormality (partial deletion) of chromosome 9 that is characterized by TRIGONOCEPHALY, flattened occiput, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, HYPERTELORISM; MUSCLE HYPERTONIA and INTELLECTUAL DISABILITY. PATENT DUCTUS ARTERIOSUS; VENTRICULAR SEPTAL DEFECTS and HERNIAS may also be present. OMIM: 158170 |
| TERMUI |
T000961505 T744510 T744509 T000961506 T802075 T802076 |
| TH |
ORD (2010) OMIM (2013) NLM (2019) |
| tui |
T049 T047 |
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