Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Preferred Label : Congenital hemidysplasia with ichthyosiform erythroderma and limb defects;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs; Child syndrome;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutations in the NAD(P)H steroid dehydrogenase-like protein gene (NSDHL, 300275.0001); Caused by mutations in the emopamil-binding protein gene (EBP, 300205.0006);

Laboratory abnormalities : Elevated 8-dehydrocholesterol; Elevated 8(9)-cholestenol;

Prefixed ID : #308050;

Détails

Origin ID

308050;

UMLS CUI

C0265267;

Automatic exact mappings (from CISMeF team)
- CHILD syndrome [MedDRA Preferred Term]
- CHILD syndrome [DO Concept]
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MedDRA LLT]
Currated CISMeF NLP mapping
- CHILD syndrome [Disease (Nov.)]
- CHILD syndrome [ORDO Disease]
- Child syndrome (disorder) [SNOMED CT concept]
- Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects [ICD-11 More detail]
- child syndrome [SNOMED Notion]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH Supplementary Concept]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH concept]
DO Cross reference
- CHILD syndrome [DO Concept]
Genes related to phenotype
- Nad(p)h steroid dehydrogenase-like protein [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the nail [HPO term]
- Adrenal hypoplasia [HPO term]
- Alopecia [HPO term]
- Aplasia/Hypoplasia involving the central nervous system [HPO term]
- Aplasia/hypoplasia of the extremities [HPO term]
- Cleft upper lip [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital ichthyosiform erythroderma [HPO term]
- Elevated 8(9)-cholestenol [HPO term]
- Elevated 8-dehydrocholesterol [HPO term]
- Epiphyseal stippling [HPO term]
- Erythema [HPO term]
- Flexion contracture [HPO term]
- Hearing impairment [HPO term]
- Heterogeneous [HPO term]
- Hydronephrosis [HPO term]
- Hyperkeratosis [HPO term]
- Hypoplastic clavicles [HPO term]
- Hypoplastic pelvic bones [HPO term]
- Hypoplastic pelvis [HPO term]
- Hypoplastic ribs [HPO term]
- Hypoplastic scapulae [HPO term]
- Intellectual disability, mild [HPO term]
- Micrognathia [HPO term]
- Mild intrauterine growth retardation [HPO term]
- Parakeratosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Renal agenesis [HPO term]
- Renal hypoplasia/aplasia [HPO term]
- Scoliosis [HPO term]
- Short clavicles [HPO term]
- Short ribs [HPO term]
- Short stature [HPO term]
- Single ventricle [HPO term]
- Stillbirth [HPO term]
- Thyroid hypoplasia [HPO term]
- Umbilical hernia [HPO term]
- Vertebral hypoplasia [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- CHILD syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHILD syndrome [ORDO Disease]
- CHILD syndrome [Disease (Nov.)]
- CHILD syndrome [MedDRA Preferred Term]
- CHILD syndrome [DO Concept]
- Child syndrome (disorder) [SNOMED CT concept]
- Congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MedDRA LLT]
- Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects [ICD-11 More detail]
- child syndrome [SNOMED Notion]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH Supplementary Concept]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH concept]

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

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