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:
Abnormality of the face (HP:0000271)

Parent Node:
Abnormality of the forehead (HP:0000290)

..Starting node
..Small forehead (HP:0000350)

Term ID:

350

Name:

Small forehead

Synonym:

Decreased size of forehead; Decreased size of frontal region of face; Hypoplasia of forehead; Hypotrophic forehead; Small forehead

Definition:

The presence of a forehead that is abnormally small.

Comments:

Reference:

HP:0000350

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of frontalis muscle belly (HP:3000004)

Abnormality of the frontal hairline (HP:0000599)

Abnormality of the glabella (HP:0002056)

Abnormality of the metopic suture (HP:0005556)

Broad forehead (HP:0000337)

Flat forehead (HP:0004425)

Forehead hyperpigmentation (HP:0005336)

Frontal bossing (HP:0002007)

Frontal hirsutism (HP:0011335)

High forehead (HP:0000348)

Large forehead (HP:0002003)

Narrow forehead (HP:0000341)

Prominent forehead (HP:0011220)

Sloping forehead (HP:0000340)

Vertical forehead creases (HP:0011221)

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:0000350	HP:0000350	Small forehead	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0000350	HP:0000350	Small forehead	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0000350	HP:0000350	Small forehead	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0000350	HP:0000350	Small forehead	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	10
HP:0000350	HP:0000350	Small forehead	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000350	HP:0000350	Small forehead	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000350	HP:0000350	Small forehead	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	96
HP:0000350	HP:0000350	Small forehead	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000350	HP:0000350	Small forehead	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000350	HP:0000350	Small forehead	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040282 - Frequent	334
HP:0000350	HP:0000350	Small forehead	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0000350	HP:0000350	Small forehead	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12

Genes (12) :CDK5 DMXL2 IFT57 KATNB1 KDM5C NAA20 NDE1 NGLY1 PIGN RELN SNX14 TFAP2A

Diseases (10) :OMIM:616342 OMIM:618663 OMIM:617927 ORPHA:89844 OMIM:300534 OMIM:619717 OMIM:615273 ORPHA:280633 ORPHA:397709 OMIM:113620

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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