Chromosome 1q41-q42 deletion syndrome

Preferred Label : Chromosome 1q41-q42 deletion syndrome;

CISMeF acronym : HPE10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HPE10; Holoprosencephaly 10;

Inheritance : Isolated cases;

Molecular basis : Caused by deletion (1.7Mb) of 1q41-q42;

Prefixed ID : #612530;

Details

Origin ID

612530;

UMLS CUI

C2675857;

Automatic exact mappings (from CISMeF team)
- holoprosencephaly 10 [MeSH Supplementary Concept]
- holoprosencephaly 10 [MeSH concept]
Currated CISMeF NLP mapping
- 1q41q42 microdeletion syndrome [ORDO Disease]
- chromosome 1q41-q42 deletion syndrome [DO Concept]
DO Cross reference
- chromosome 1q41-q42 deletion syndrome [DO Concept]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Coarse facial features [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Dysplastic ears [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Holoprosencephaly [HPO term]
- Hypoplastic pinna [HPO term]
- Hypotelorism [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Microtia [HPO term]
- Preauricular skin tag [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sporadic [HPO term]
- Talipes equinovarus [HPO term]
- Upslanted palpebral fissure [HPO term]
- Vertebral segmentation defect [HPO term]
ORDO concept(s)
- 1q41q42 microdeletion syndrome [ORDO Disease]
- Holoprosencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 1q41q42 microdeletion syndrome [ORDO Disease]
- chromosome 1q41-q42 deletion syndrome [DO Concept]
- holoprosencephaly 10 [MeSH Supplementary Concept]
- holoprosencephaly 10 [MeSH concept]

Keyword's position in hierarchy(ies) :

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