Dysosteosclerosis

Preferred Label : Dysosteosclerosis;

Type : Phenotype or locus, molecular basis unknown;

Description : Dysosteosclerosis is a rare bone dysplasia associated with neurodevelopmental deterioration. There is sclerosis and platyspondyly with progressive metaphyseal expansion and alteration of bone density. The early craniotubular bone modeling and clinical presentation resemble osteopetrosis (summary by Elcioglu et al., 2002).;

Inheritance : Autosomal recessive;

Prefixed ID : %224300;

Details

Origin ID

224300;

UMLS CUI

C0432262;

Currated CISMeF NLP mapping
- Dysosteosclerosis [ICD-11 More detail]
- Dysosteosclerosis [ORDO Disease]
- Dysosteosclerosis (disorder) [SNOMED CT concept]
- dysosteosclerosis [MeSH concept]
- dysosteosclerosis [MeSH Supplementary Concept]
HPO term(s)
- Abducens palsy [HPO term]
- Abducens palsy [HPO term]
- Abnormal metaphyseal trabeculation [HPO term]
- Absent frontal sinuses [HPO term]
- Absent paranasal sinuses [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Broad femoral neck [HPO term]
- Broad ribs [HPO term]
- Clavicular sclerosis [HPO term]
- Deafness [HPO term]
- Delayed closure of the anterior fontanelle [HPO term]
- Delayed eruption of teeth [HPO term]
- Dermal atrophy [HPO term]
- Developmental regression [HPO term]
- Diaphyseal thickening [HPO term]
- Disproportionate short stature [HPO term]
- Facial paralysis [HPO term]
- Flared metaphysis [HPO term]
- Frontal bossing [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypoplastic vertebral bodies [HPO term]
- Increased intervertebral space [HPO term]
- Increased susceptibility to fractures [HPO term]
- Intellectual disability [HPO term]
- Irregular vertebral endplates [HPO term]
- Micrognathia [HPO term]
- Narrow chest [HPO term]
- Narrow iliac wing [HPO term]
- Natal tooth [HPO term]
- Obliteration of frontal sinuses [HPO term]
- Obstructive sleep apnea [HPO term]
- Oligodontia [HPO term]
- Optic atrophy [HPO term]
- Osteopenia [HPO term]
- Parietal bossing [HPO term]
- Platyspondyly [HPO term]
- Premature loss of teeth [HPO term]
- Progressive bowing of long bones [HPO term]
- Prominent forehead [HPO term]
- Round face [HPO term]
- Sclerosis of hand bone [HPO term]
- Sclerosis of skull base [HPO term]
- Sclerotic scapulae [HPO term]
- Seizure [HPO term]
- Short diaphyses [HPO term]
- Short ribs [HPO term]
- Short sternum [HPO term]
ORDO concept(s)
- Dysosteosclerosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dysosteosclerosis [ORDO Disease]
- Dysosteosclerosis [ICD-11 More detail]
- Dysosteosclerosis (disorder) [SNOMED CT concept]
- dysosteosclerosis [MeSH Supplementary Concept]
- dysosteosclerosis [MeSH concept]

Keyword's position in hierarchy(ies) :

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