Lenz-majewski hyperostotic dwarfism

Preferred Label : Lenz-majewski hyperostotic dwarfism;

Symbol : LMHD;

CISMeF acronym : LMHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lenz-majewski syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphatidylserine synthase 1 gene (PTDSS1, 612792.0001);

Prefixed ID : #151050;

Details

Origin ID

151050;

UMLS CUI

C0432269;

Automatic exact mappings (from CISMeF team)
- Lenz Majewski hyperostotic dwarfism [MeSH concept]
- Lenz-Majewski hyperostotic dwarfism [DO Concept]
Currated CISMeF NLP mapping
- Lenz-Majewski hyperostotic dwarfism [ICD-11 More detail]
- Lenz-Majewski hyperostotic dwarfism [ORDO Disease]
- lenz majewski hyperostotic dwarfism [MeSH Supplementary Concept]
DO Cross reference
- Lenz-Majewski hyperostotic dwarfism [DO Concept]
Genes related to phenotype
- Phosphatidylserine synthase 1 [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Agenesis of corpus callosum [HPO term]
- All cases sporadic [HPO term]
- Anteriorly placed anus [HPO term]
- Aplasia/Hypoplasia of the middle phalanges of the hand [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad clavicles [HPO term]
- Broad forehead [HPO term]
- Broad ribs [HPO term]
- Choanal atresia [HPO term]
- Choanal stenosis [HPO term]
- Chordee [HPO term]
- Cryptorchidism [HPO term]
- Cutis laxa [HPO term]
- Cutis marmorata [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed skeletal maturation [HPO term]
- Diaphyseal thickening [HPO term]
- Elbow flexion contracture [HPO term]
- Failure to thrive [HPO term]
- Flared metaphysis [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Humeroradial synostosis [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, moderate [HPO term]
- Intrauterine growth retardation [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Lacrimal duct stenosis [HPO term]
- Large fontanelles [HPO term]
- Large, floppy ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Microglossia [HPO term]
- Micrognathia [HPO term]
- Progressive sclerosis of skull base [HPO term]
- Prominent forehead [HPO term]
- Prominent scalp veins [HPO term]
- Proximal symphalangism of hands [HPO term]
- Relative macrocephaly [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Sporadic [HPO term]
- Syndactyly [HPO term]
- Thin skin [HPO term]
- long, flared metaphyses [HPO term]
ORDO concept(s)
- Lenz-Majewski hyperostotic dwarfism [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Lenz Majewski hyperostotic dwarfism [MeSH concept]
- Lenz-Majewski hyperostosis syndrome (disorder) [SNOMED CT concept]
- Lenz-Majewski hyperostotic dwarfism [ORDO Disease]
- Lenz-Majewski hyperostotic dwarfism [ICD-11 More detail]
- Lenz-Majewski hyperostotic dwarfism [DO Concept]
- lenz majewski hyperostotic dwarfism [MeSH Supplementary Concept]
- lenz-majewski hyperostosis syndrome [SNOMED Notion]

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