Human Phenotype Ontology

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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:
Abnormal cerebral morphology (HP:0002060)

Grandparent Node:
Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Parent Node:
Aplasia/Hypoplasia of the cerebrum (HP:0007364)

..Starting node
..Cerebral hypoplasia (HP:0006872)

Term ID:

6872

Name:

Cerebral hypoplasia

Synonym:

Small cerebrum; Underdeveloped cerebrum

Definition:

Underdevelopment of the cerebrum.

Comments:

Reference:

HP:0006872

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the frontal lobes (HP:0007333)

........

Open operculum (HP:0100954)

Sister Nodes:

Anencephaly (HP:0002323)

Aplasia/Hypoplasia of the corpus callosum (HP:0007370)

Aprosencephaly (HP:0007268)

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:0006872	HP:0006872	Cerebral hypoplasia	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly		3
HP:0006872	HP:0006872	Cerebral hypoplasia	0	ARHGEF9 CL E G H	23229	14561	ORPHA:163985	Hyperekplexia-epilepsy syndrome		45
HP:0006872	HP:0006872	Cerebral hypoplasia	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly		512
HP:0006872	HP:0006872	Cerebral hypoplasia	0	ATP1A1 CL E G H	476	799	ORPHA:564178	Primary hypomagnesemia with refractory seizures and intellectual disability	HP:0040282 - Frequent	4
HP:0006872	HP:0006872	Cerebral hypoplasia	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0006872	HP:0006872	Cerebral hypoplasia	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0006872	HP:0006872	Cerebral hypoplasia	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0006872	HP:0006872	Cerebral hypoplasia	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly		181
HP:0006872	HP:0006872	Cerebral hypoplasia	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly		6
HP:0006872	HP:0006872	Cerebral hypoplasia	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly		161
HP:0006872	HP:0006872	Cerebral hypoplasia	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly		38
HP:0006872	HP:0006872	Cerebral hypoplasia	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly		146
HP:0006872	HP:0006872	Cerebral hypoplasia	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly		31
HP:0006872	HP:0006872	Cerebral hypoplasia	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly		15
HP:0006872	HP:0006872	Cerebral hypoplasia	0	COASY CL E G H	80347	29932	OMIM:618266	Pontocerebellar hypoplasia, type 12	.	16
HP:0006872	HP:0006872	Cerebral hypoplasia	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0006872	HP:0006872	Cerebral hypoplasia	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0006872	HP:0006872	Cerebral hypoplasia	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0006872	HP:0006872	Cerebral hypoplasia	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0006872	HP:0006872	Cerebral hypoplasia	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0006872	HP:0006872	Cerebral hypoplasia	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency		301
HP:0006872	HP:0006872	Cerebral hypoplasia	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0006872	HP:0006872	Cerebral hypoplasia	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0006872	HP:0006872	Cerebral hypoplasia	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency		115
HP:0006872	HP:0006872	Cerebral hypoplasia	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0006872	HP:0006872	Cerebral hypoplasia	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0006872	HP:0006872	Cerebral hypoplasia	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0006872	HP:0006872	Cerebral hypoplasia	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly		9
HP:0006872	HP:0006872	Cerebral hypoplasia	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.	9
HP:0006872	HP:0006872	Cerebral hypoplasia	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly		112
HP:0006872	HP:0006872	Cerebral hypoplasia	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0006872	HP:0006872	Cerebral hypoplasia	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0006872	HP:0006872	Cerebral hypoplasia	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly		155
HP:0006872	HP:0006872	Cerebral hypoplasia	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0006872	HP:0006872	Cerebral hypoplasia	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly		5
HP:0006872	HP:0006872	Cerebral hypoplasia	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0006872	HP:0006872	Cerebral hypoplasia	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0006872	HP:0006872	Cerebral hypoplasia	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0006872	HP:0006872	Cerebral hypoplasia	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly		16
HP:0006872	HP:0006872	Cerebral hypoplasia	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0006872	HP:0006872	Cerebral hypoplasia	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly		11
HP:0006872	HP:0006872	Cerebral hypoplasia	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0006872	HP:0006872	Cerebral hypoplasia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0006872	HP:0006872	Cerebral hypoplasia	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly		4
HP:0006872	HP:0006872	Cerebral hypoplasia	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0006872	HP:0006872	Cerebral hypoplasia	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly		99
HP:0006872	HP:0006872	Cerebral hypoplasia	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly		2
HP:0006872	HP:0006872	Cerebral hypoplasia	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0006872	HP:0006872	Cerebral hypoplasia	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0006872	HP:0006872	Cerebral hypoplasia	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0006872	HP:0006872	Cerebral hypoplasia	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0006872	HP:0006872	Cerebral hypoplasia	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly		224
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	3
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	ARHGEF9 CL E G H	23229	14561	ORPHA:163985	Hyperekplexia-epilepsy syndrome	HP:0040282 - Frequent	45
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	512
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0006872	HP:0100954	Open operculum	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	181
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	6
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	161
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	38
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	146
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	31
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	15
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0006872	HP:0100954	Open operculum	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0006872	HP:0100954	Open operculum	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0006872	HP:0100954	Open operculum	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	115
HP:0006872	HP:0100954	Open operculum	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	9
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	112
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	155
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	5
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	16
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	11
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	4
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	99
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	2
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0006872	HP:0007333	Hypoplasia of the frontal lobes	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	224

Genes (50) :ANKLE2 ARHGEF9 ASPM ATP1A1 BRAF BUB1B C2CD3 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 CIT COASY COPB2 CSPP1 DHCR7 DPM1 FDXR FH FIG4 GCDH HHAT HSD17B4 KIAA0586 KIF14 KNL1 MBD5 MCM7 MCPH1 METTL5 MFSD2A MKS1 MYSM1 NCAPD3 PHC1 PHGDH PYCR2 RNU4ATAC RTTN SASS6 SLC35C1 STIL TAF13 TRAPPC10 TRAPPC14 VAC14 WDR45B WDR62

Diseases (26) :ORPHA:2512 ORPHA:163985 ORPHA:564178 OMIM:115150 OMIM:257300 ORPHA:434179 OMIM:618266 ORPHA:397715 OMIM:270400 ORPHA:79322 ORPHA:543470 OMIM:606812 OMIM:216340 ORPHA:3472 ORPHA:25 ORPHA:1422 OMIM:261515 OMIM:616258 OMIM:156200 OMIM:249000 ORPHA:508542 ORPHA:79351 OMIM:210710 ORPHA:468631 ORPHA:99843 OMIM:617977

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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