Microcephalic osteodysplastic primordial dwarfism, type I

Preferred Label : Microcephalic osteodysplastic primordial dwarfism, type I;

Symbol : MOPD1;

CISMeF acronym : MOPD; MOPD1; TALS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : TALS; Brachymelic primordial dwarfism; Mopd I; Taybi-linder syndrome; Osteodysplastic primordial dwarfism, type I; Cephaloskeletal dysplasia; MOPD; Low-birth-weight dwarfism with skeletal dysplasia; Mopd I/iii; Osteodysplastic primordial dwarfism, type III; Mopd, sicilian fairy type; Microcephalic osteodysplastic primordial dwarfism type I/iii; Mopd III; MOPD3; Microcephalic osteodysplastic primordial dwarfism, caroline crachami type; Microcephalic osteodysplastic primordial dwarfism, type III; Microcephalic osteodysplastic primordial dwarfism, sicilian fairy type; Mopd, caroline crachami type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RNA, U4, small nuclear, AT-AC form gene (RNU4ATAC, 601428.0001);

Prefixed ID : #210710;

Details

Origin ID

210710;

UMLS CUI

C1859452;

Automatic exact mappings (from CISMeF team)
- microcephalic osteodysplastic primordial dwarfism, type II [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Microcephalic osteodysplastic primordial dwarfism types I and III [ORDO Disease]
Currated CISMeF NLP mapping
- Microcephalic osteodysplastic primordial dwarfism types I and III [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism, type 1 [MeSH concept]
- microcephalic osteodysplastic primordial dwarfism type I [DO Concept]
- microcephalic osteodysplastic primordial dwarfism type I [Disease (Nov.)]
- microcephalic osteodysplastic primordial dwarfism, type 1 [MeSH Supplementary Concept]
DO Cross reference
- microcephalic osteodysplastic primordial dwarfism type I [DO Concept]
Genes related to phenotype
- Rna, u4atac small nuclear [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abnormality of the pinna [HPO term]
- Absent knee epiphyses [HPO term]
- Agenesis of cerebellar vermis [HPO term]
- Agenesis of corpus callosum [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bowed humerus [HPO term]
- Brachydactyly [HPO term]
- Cleft vertebral arch [HPO term]
- Coarctation of aorta [HPO term]
- Cryptorchidism [HPO term]
- Delayed skeletal maturation [HPO term]
- Disproportionate short stature [HPO term]
- Dry skin [HPO term]
- Dysplastic ears [HPO term]
- Elbow dislocation [HPO term]
- Elbow flexion contracture [HPO term]
- Enlarged metaphyses [HPO term]
- Failure to thrive [HPO term]
- Femoral bowing [HPO term]
- Flexion contracture [HPO term]
- Genu varus [HPO term]
- Gray matter heterotopia [HPO term]
- Hip contracture [HPO term]
- Hip dislocation [HPO term]
- Hyperkeratosis [HPO term]
- Hypoplasia of the frontal lobes [HPO term]
- Hypoplastic ilia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Large hands [HPO term]
- Large nose [HPO term]
- Limb undergrowth [HPO term]
- Long clavicles [HPO term]
- Long foot [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Micropenis [HPO term]
- Microtia [HPO term]
- Oligohydramnios [HPO term]
- Pachygyria [HPO term]
- Platyspondyly [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Prominent eyes [HPO term]
- Prominent nose [HPO term]
- Prominent occiput [HPO term]
- Proptosis [HPO term]
- Renal cyst [HPO term]
- Renal hypoplasia [HPO term]
- Seizure [HPO term]
- Short femur [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
- Short metacarpal [HPO term]
- Short neck [HPO term]
- Shoulder flexion contracture [HPO term]
- Single transverse palmar crease [HPO term]
- Sloping forehead [HPO term]
- Small anterior fontanelle [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Tetralogy of Fallot [HPO term]
- sparse-absent scalp hair [HPO term]
ORDO concept(s)
- Microcephalic osteodysplastic primordial dwarfism types I and III [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalic osteodysplastic primordial dwarfism types I and III [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism, type 1 [MeSH concept]
- Osteodysplastic primordial dwarfism, type 1 (disorder) [SNOMED CT concept]
- microcephalic osteodysplastic primordial dwarfism type I [DO Concept]
- microcephalic osteodysplastic primordial dwarfism type I [Disease (Nov.)]
- microcephalic osteodysplastic primordial dwarfism, type 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) [SNOMED CT concept]

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