Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Cephalocele (HP:0011815)

Grandparent Node:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Encephalocele (HP:0002084)

..Starting node
..Cranium bifidum occultum (HP:0004423)

Term ID:

4423

Name:

Cranium bifidum occultum

Synonym:

Definition:

Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures.1, 2, 3 Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain.1, 4, 5 Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge.

Comments:

Reference:

HP:0004423

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior basal encephalocele (HP:0006992)

Anterior encephalocele (HP:0007035)

Basal encephalocele (HP:0011817)

Frontal encephalocele (HP:0007330)

Meningoencephalocele (HP:0006888)

Occipital encephalocele (HP:0002085)

Orbital encephalocele (HP:0007115)

Parietal encephalocele (HP:0011816)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004423	HP:0004423	Cranium bifidum occultum	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040283 - Occasional	5
HP:0004423	HP:0004423	Cranium bifidum occultum	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0004423	HP:0004423	Cranium bifidum occultum	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9

Genes (2) :ALX1 ALX3

Diseases (3) :ORPHA:306542 OMIM:136760 ORPHA:391474

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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