ORPHA:93297
Hypochondrogenesis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Achondrogenesis
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypochondrogenesis | |
| fr | Hypochondrogenèse | |
| de | Hypochondrogenesie | |
| es | Hipocondrogénesis | |
| it | Ipocondrogenesi | |
| nl | Hypochondrogenese | |
| pt | Hipocondrogenese | |
| pl | Hipochondrogeneza | |
| cs | Hypochondrogeneze | |
| uk | Іпохондрогенез | |
| zh | 软骨形成不足 | |
| tr | Hipokondrogenez |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200610 | NTBT | validated | |
| ICD-10 | Q77.0 | NTBT | inclusion | validated |
| ICD-11 | LD24.51 | E | specific | validated |
| MONDO | 0019669 | E | validated | |
| MeSH | C563007 | E | validated | |
| UMLS | C0542428 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:932Achondrogenesis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93421Type 2 collagen-related bone disorder
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 10797431[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93297
- This record as JSON: /data/d/93297.json