Maternal uniparental disomy of chromosome 9
diseaseOn this page
Also known as maternal uniparental disomy of chromosome type 9UPD(9)mat
Summary
Maternal uniparental disomy of chromosome 9 (MONDO:0019914) is a disease. A subtype of chromosome 9 disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Phenotypes (HPO): 21
Clinical features
Signs & symptoms
Clinical features (HPO)
21 HPO clinical features (Orphanet curated; top 21 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000276 | Long face | Very frequent (80-99%) |
| HP:0000324 | Facial asymmetry | Very frequent (80-99%) |
| HP:0000347 | Micrognathia | Very frequent (80-99%) |
| HP:0000369 | Low-set ears | Very frequent (80-99%) |
| HP:0000470 | Short neck | Very frequent (80-99%) |
| HP:0000545 | Myopia | Very frequent (80-99%) |
| HP:0001263 | Global developmental delay | Very frequent (80-99%) |
| HP:0001508 | Failure to thrive | Very frequent (80-99%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (80-99%) |
| HP:0001558 | Decreased fetal movement | Very frequent (80-99%) |
| HP:0001795 | Hyperconvex nail | Very frequent (80-99%) |
| HP:0002546 | Incomprehensible speech | Very frequent (80-99%) |
| HP:0002751 | Kyphoscoliosis | Very frequent (80-99%) |
| HP:0002999 | Patellar dislocation | Very frequent (80-99%) |
| HP:0003070 | Elbow ankylosis | Very frequent (80-99%) |
| HP:0003089 | Hamstring contractures | Very frequent (80-99%) |
| HP:0003468 | Abnormal vertebral morphology | Very frequent (80-99%) |
| HP:0011968 | Feeding difficulties | Very frequent (80-99%) |
| HP:0040188 | Osteochondrosis | Very frequent (80-99%) |
| HP:0000851 | Congenital hypothyroidism | Occasional (5-29%) |
| HP:0007973 | Retinal dysplasia | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | maternal uniparental disomy of chromosome 9 |
| Mondo ID | MONDO:0019914 |
| Orphanet | 96183 |
| ICD-11 | 102102686 |
| SNOMED CT | 766240006 |
| UMLS | C4707721 |
| MedGen | 1634619 |
| GARD | 0019335 |
| Is cancer (heuristic) | no |
Also known as: maternal uniparental disomy of chromosome type 9 · UPD(9)mat
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › autosomal anomaly › chromosome 9 disorder › maternal uniparental disomy of chromosome 9
Related subtypes (4): partial deletion of chromosome 9, partial trisomy/tetrasomy of chromosome 9, ring chromosome 9, mosaic trisomy 9
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.