Dyggve-melchior-clausen disease

Preferred Label : Dyggve-melchior-clausen disease;

Symbol : DMC;

CISMeF acronym : DMC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the FLJ90130 gene (FLJ90130, 607461.0001);

Prefixed ID : #223800;

Details

Origin ID

223800;

UMLS CUI

C0265286;

Automatic exact mappings (from CISMeF team)
- 2'-methyl-2'-deoxycytidine [MeSH Supplementary Concept]
- C-X-C motif chemokine ligand 17 [HGNC gene]
- Congenital muscular dystrophy [ORDO Disease]
- Data Monitoring Committee [NCIt concept]
- chlorfenethol [Substance BNPC]
- chlorfenethol [MeSH concept]
- chlorfenethol [MeSH Supplementary Concept]
- congenital muscular dysdrophy [CISMeF Querying Strategy]
- dymeclin [ORDO Gene]
- dymeclin [HGNC gene]
Currated CISMeF NLP mapping
- Dyggve Melchior Clausen syndrome [PASCAL descriptor]
- Dyggve Melchior Clausen syndrome [Disease (Nov.)]
- Dyggve-Melchior-Clausen Syndrome [NCIt concept]
- Dyggve-Melchior-Clausen disease [DO Concept]
- Dyggve-Melchior-Clausen disease [ICD-11 More detail]
- Dyggve-Melchior-Clausen disease [ORDO Disease]
- Dyggve-Melchior-Clausen syndrome [MeSH Supplementary Concept]
- Dyggve-Melchior-Clausen syndrome [MeSH concept]
- Dyggve-Melchior-Clausen syndrome (disorder) [SNOMED CT concept]
- dyggve-melchior-clausen syndrome [SNOMED Notion]
DO Cross reference
- Dyggve-Melchior-Clausen disease [DO Concept]
Genes related to phenotype
- Dymeclin [OMIM gene]
HPO term(s)
- Anterior beaking of vertebral bodies [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Beaking of vertebral bodies [HPO term]
- Brachydactyly [HPO term]
- Broad foot [HPO term]
- Broad palm [HPO term]
- Camptodactyly [HPO term]
- Carpal bone hypoplasia [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarse facial features [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Deformed sella turcica [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Enlargement of the costochondral junction [HPO term]
- Femoral bowing [HPO term]
- Flaring of lower rib cage [HPO term]
- Flat acetabular roof [HPO term]
- Flat glenoid fossa [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Hypoplastic facial bones [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypoplastic scapulae [HPO term]
- Iliac crest serration [HPO term]
- Kyphosis [HPO term]
- Limitation of joint mobility [HPO term]
- Lumbar hyperlordosis [HPO term]
- Mandibular prognathia [HPO term]
- Metaphyseal widening [HPO term]
- Microcephaly [HPO term]
- Multicentric ossification of proximal femoral epiphyses [HPO term]
- Multicentric ossification of proximal humeral epiphyses [HPO term]
- Narrow greater sciatic notch [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Platyspondyly [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent calcaneus [HPO term]
- Prominent sternum [HPO term]
- Rhizomelic arm shortening [HPO term]
- Rhizomelic shortening [HPO term]
- Scoliosis [HPO term]
- Severe global developmental delay [HPO term]
- Shield chest [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Short scapulae [HPO term]
- Short trunk [HPO term]
- Talipes equinovarus [HPO term]
- Thickened calvaria [HPO term]
- Thoracic kyphosis [HPO term]
- Tibial bowing [HPO term]
- Waddling gait [HPO term]
- Wide pubic symphysis [HPO term]
ORDO concept(s)
- Dyggve-Melchior-Clausen disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dyggve Melchior Clausen syndrome [PASCAL descriptor]
- Dyggve Melchior Clausen syndrome [Disease (Nov.)]
- Dyggve-Melchior-Clausen Syndrome [NCIt concept]
- Dyggve-Melchior-Clausen disease [ORDO Disease]
- Dyggve-Melchior-Clausen disease [DO Concept]
- Dyggve-Melchior-Clausen disease [ICD-11 More detail]
- Dyggve-Melchior-Clausen syndrome [MeSH Supplementary Concept]
- Dyggve-Melchior-Clausen syndrome [MeSH concept]
- Dyggve-Melchior-Clausen syndrome (disorder) [SNOMED CT concept]
- dyggve-melchior-clausen syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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