Microcephalic osteodysplastic primordial dwarfism, type III

Preferred Label : Microcephalic osteodysplastic primordial dwarfism, type III;

Obsolete resource : true;

Moved to : 210710;

CISMeF acronym : MOPD3;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Osteodysplastic primordial dwarfism, type III; MOPD3; Microcephalic osteodysplastic primordial dwarfism, caroline crachami type; Mopd, sicilian fairy type; Microcephalic osteodysplastic primordial dwarfism, sicilian fairy type; Mopd III; Mopd, caroline crachami type;

Inheritance : Autosomal recessive;

Prefixed ID : 210730;

Détails

Origin ID

210730;

UMLS CUI

C1859439;

Automatic exact mappings (from CISMeF team)
- Microcephalic osteodysplastic primordial dwarfism types I and III [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism, type 3 [MeSH concept]
- microcephalic osteodysplastic primordial dwarfism, type 3 [MeSH Supplementary Concept]
- microcephalic osteodysplastic primordial dwarfism, type II [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Microcephalic osteodysplastic primordial dwarfism types I and III [ORDO Disease]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bladder exstrophy [HPO term]
- Cerebellar atrophy [HPO term]
- Chorioretinal coloboma [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Delayed cranial suture closure [HPO term]
- Dislocation of the femoral head [HPO term]
- Dysharmonic delayed bone age [HPO term]
- Enlarged, flat sella turcica [HPO term]
- Flat sella turcica [HPO term]
- Generalized hypotonia [HPO term]
- Glaucoma [HPO term]
- High palate [HPO term]
- High pitched voice [HPO term]
- Hip contracture [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Hypoplastic ischia [HPO term]
- Hypoplastic pubic bone [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Kyphoscoliosis [HPO term]
- Large sella turcica [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Minimal subcutaneous fat [HPO term]
- Narrow forehead [HPO term]
- Oligodontia [HPO term]
- Optic atrophy [HPO term]
- Pectus carinatum [HPO term]
- Photophobia [HPO term]
- Prominent eyes [HPO term]
- Proportionate dwarfism [HPO term]
- Proptosis [HPO term]
- Severe generalized osteoporosis [HPO term]
- Severe short stature [HPO term]
- Slender long bone [HPO term]
- Sloping forehead [HPO term]
- Small, pointed nose [HPO term]
- Strabismus [HPO term]
- Talipes [HPO term]
- Thick upper lip vermilion [HPO term]
- Thin long bone diaphyses [HPO term]
- Thin upper lip vermilion [HPO term]
- Thin, gracile long bones [HPO term]
- Ulnar deviation of finger [HPO term]
- steep, narrow forehead [HPO term]
ORDO concept(s)
- Microcephalic osteodysplastic primordial dwarfism types I and III [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalic osteodysplastic primordial dwarfism, type 3 [MeSH concept]
- microcephalic osteodysplastic primordial dwarfism, type 3 [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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