ORPHA:139027
Rare developmental defect with skin/mucosae 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 skin/mucosae involvement | |
| fr | Anomalie rare du développement avec anomalies de la peau ou des muqueuses | |
| de | Dysmorphie-Syndrom mit Haut/Schleimhaut-Beteiligung | |
| es | Defecto raro del desarrollo con afectación de piel/mucosa | |
| it | Sindrome dismorfica con coinvolgimento cutaneo/delle mucose | |
| nl | Zeldzaam ontwikkelingsdefect met betrokkenheid van huid/slijmvlies | |
| pt | Síndrome dismórfico com envolvimento da pele ou mucosas | |
| pl | Zespół malformacji z udziałem skóry/błony śluzowej | |
| cs | Malformační syndromy s postižením kůže/sliznic | |
| uk | Рідкісна вада розвитку з ураженням шкіри/слизових оболонок | |
| zh | 伴皮肤/粘膜受累的罕见发育缺陷 | |
| tr | Deri / mukoza tutulumu ile seyreden nadir gelişimsel defekt |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15331 | E | validated | |
| UMLS | C5680621 | E | validated | |
| GARD | 19904 | 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 (42):
- ORPHA:37Acrodermatitis enteropathica
- ORPHA:1116Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- ORPHA:1117Aplasia cutis-myopia syndrome
- ORPHA:1253Ascher syndrome
- ORPHA:100Ataxia-telangiectasia
- ORPHA:113Bazex-Dupré-Christol syndrome
- ORPHA:139CHILD syndrome
- ORPHA:191Cockayne syndrome
- ORPHA:697356Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome
- ORPHA:3071Costello syndrome
- ORPHA:209Cutis laxa
- ORPHA:303Dystrophic epidermolysis bullosa
- ORPHA:79373Ectodermal dysplasia syndrome
- ORPHA:98249Ehlers-Danlos syndrome
- ORPHA:230857Ehlers-Danlos/osteogenesis imperfecta syndrome
- ORPHA:257Epidermolysis bullosa simplex with muscular dystrophy
- ORPHA:352712Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
- ORPHA:2295Familial articular hypermobility syndrome
- ORPHA:774Hereditary hemorrhagic telangiectasia
- ORPHA:740Hutchinson-Gilford progeria syndrome
- ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome
- ORPHA:2272Ichthyosis-oral and digital anomalies syndrome
- ORPHA:363992Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
- ORPHA:2176Infantile systemic hyalinosis
- ORPHA:289465Isolated congenital adermatoglyphia
- ORPHA:79143Isolated congenital anonychia
- ORPHA:305Junctional epidermolysis bullosa
- ORPHA:530Lipoid proteinosis
- ORPHA:2556Microphthalmia with linear skin defects syndrome
- ORPHA:33445Neuroectodermal melanolysosomal disease
- ORPHA:500Noonan syndrome with multiple lentigines
- ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndrome
- ORPHA:2309Pachyonychia congenita
- ORPHA:2959Progeria-short stature-pigmented nevi syndrome
- ORPHA:758Pseudoxanthoma elasticum
- ORPHA:1662Restrictive dermopathy
- ORPHA:3440Waardenburg syndrome
- ORPHA:902Werner syndrome
- ORPHA:3455Wiedemann-Rautenstrauch syndrome
- ORPHA:910Xeroderma pigmentosum
- ORPHA:90342Xeroderma pigmentosum variant
- ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complex
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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139027
- This record as JSON: /data/d/139027.json