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 skull size (HP:0000240)

Parent Node:
Decreased head circumference (HP:0040195)

..Starting node
..Mild microcephaly (HP:0040196)

Term ID:

40196

Name:

Mild microcephaly

Synonym:

Definition:

Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).

Comments:

Reference:

HP:0040196

Genes and Diseases:

Child Nodes:

Sister Nodes:

Microcephaly (HP:0000252)

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:0040196	HP:0040196	Mild microcephaly	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040283 - Occasional	48
HP:0040196	HP:0040196	Mild microcephaly	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10		1
HP:0040196	HP:0040196	Mild microcephaly	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040283 - Occasional	71
HP:0040196	HP:0040196	Mild microcephaly	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0040196	HP:0040196	Mild microcephaly	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0040196	HP:0040196	Mild microcephaly	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare	37
HP:0040196	HP:0040196	Mild microcephaly	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0040196	HP:0040196	Mild microcephaly	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0040196	HP:0040196	Mild microcephaly	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	121
HP:0040196	HP:0040196	Mild microcephaly	0	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4		3
HP:0040196	HP:0040196	Mild microcephaly	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0040196	HP:0040196	Mild microcephaly	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	304
HP:0040196	HP:0040196	Mild microcephaly	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	16
HP:0040196	HP:0040196	Mild microcephaly	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	237
HP:0040196	HP:0040196	Mild microcephaly	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional	129
HP:0040196	HP:0040196	Mild microcephaly	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	1
HP:0040196	HP:0040196	Mild microcephaly	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0040196	HP:0040196	Mild microcephaly	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent	278
HP:0040196	HP:0040196	Mild microcephaly	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	278

Genes (17) :ASPA CEP85L COG6 CWF19L1 GATA6 GRIN2B LARP7 OCA2 PLAG1 RIC1 SDHA SDHAF1 SDHB SDHD THOC6 TRAPPC9 UBE3A

Diseases (15) :ORPHA:314918 OMIM:618873 ORPHA:363523 ORPHA:453521 OMIM:616127 ORPHA:2255 OMIM:616139 ORPHA:319671 ORPHA:98794 OMIM:618907 OMIM:618761 ORPHA:3208 ORPHA:363444 OMIM:613192 ORPHA:411511

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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