ORPHA:139030
Rare developmental defect with connective tissue involvement
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rare developmental defect with connective tissue involvement | |
| fr | Anomalie rare du développement avec anomalies du tissu conjonctif | |
| de | Seltener Entwicklungsdefekt mit Bindegewebsbeteiligung | |
| es | Anomalía rara del desarrollo con afectación del tejido conectivo | |
| it | Difetto raro dello sviluppo con coinvolgimento del tessuto connettivo | |
| nl | Zeldzaam ontwikkelingsdefect met betrokkenheid van bindweefsel | |
| pt | Síndrome dismórfico com envolvimento do tecido conjuntivo | |
| pl | Rzadka wada rozwojowa z udziałem tkanki łącznej | |
| cs | Vzácné vývojové defekty s postižením pojivové tkáně | |
| uk | Рідкісна вада розвитку із залученням сполучної тканини | |
| zh | 伴结缔组织受累的罕见发育缺陷 | |
| tr | Bağ dokusu tutulumu ile seyreden nadir gelişimsel defekt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15332 | E | validated | |
| UMLS | C5680622 | E | validated | |
| GARD | 19905 | 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:93890Rare developmental defect during embryogenesis
rare developmental anomalies during embryogenesis - ORPHA:183530Rare genetic developmental defect during embryogenesis
rare genetic diseases
Children (19):
- ORPHA:171844Blindness-scoliosis-arachnodactyly syndrome
- ORPHA:228410Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- ORPHA:300284Connective tissue disorder due to lysyl hydroxylase-3 deficiency
- ORPHA:209Cutis laxa
- ORPHA:171719Cutis laxa-Marfanoid syndrome
- ORPHA:1425Desbuquois syndrome
- ORPHA:98249Ehlers-Danlos syndrome
- ORPHA:230857Ehlers-Danlos/osteogenesis imperfecta syndrome
- ORPHA:2295Familial articular hypermobility syndrome
- ORPHA:697101Fontaine progeroid syndrome
- ORPHA:79094Grange syndrome
- ORPHA:503Larsen syndrome
- ORPHA:284139Larsen-like syndrome, B3GAT3 type
- ORPHA:2371Lethal Larsen-like syndrome
- ORPHA:558Marfan syndrome
- ORPHA:314041Marfanoid habitus-inguinal hernia-advanced bone age syndrome
- ORPHA:85174Pseudodiastrophic dysplasia
- ORPHA:758Pseudoxanthoma elasticum
- ORPHA:527450Severe myopia-generalized joint laxity-short stature syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139030
- This record as JSON: /data/d/139030.json