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

Parent Node:
Agenesis of corpus callosum (HP:0001274)

..Starting node
..Partial agenesis of the corpus callosum (HP:0001338)

Term ID:

1338

Name:

Partial agenesis of the corpus callosum

Synonym:

Corpus callosum agenesis, partial; Partial agenesis of corpus callosum; Partial corpus callosum agenesis; Partial or complete agenesis of corpus callosum; Partial or complete agenesis of the corpus callosum; Partial to complete agenesis of corpus callosum; Partial-total agenesis of corpus callosum

Definition:

A partial failure of the development of the corpus callosum.

Comments:

Reference:

HP:0001338

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.	20
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.	72
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	.	1
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040284 - Very rare	3
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.	134
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome	.	289
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional	9
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040282 - Frequent	73
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency	.	98
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.	36
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	TCF12 CL E G H	6938	11623	OMIM:615314	Craniosynostosis 3		28
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent	2
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040282 - Frequent	64
HP:0001338	HP:0001338	Partial agenesis of the corpus callosum	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.

Genes (51) :AMER1 ARID1B C2CD3 CARS1 CDC40 CDK5RAP2 CENPE CLCN3 CRPPA DHCR24 DHCR7 ERCC2 ERCC3 FRMD4A FUZ GLI2 GPSM2 GTF2E2 GTF2H5 KAT5 KATNB1 KDM5B KIDINS220 L1CAM LONP1 LRP2 LRRC32 MAN2C1 MDH1 MED12 MPLKIP MRPS25 NSD1 OSTM1 PDHA1 PDHX PLCH1 PTCH1 RNF113A RNU4ATAC SLC25A19 SUPT16H TARS1 TCF12 TMEM260 TNR TRAPPC12 TUBA1A TUBB TUBB3 WDR4

Diseases (45) :OMIM:300373 OMIM:135900 ORPHA:434179 ORPHA:33364 OMIM:619302 OMIM:604804 OMIM:616051 OMIM:619512 OMIM:619517 OMIM:614643 OMIM:602398 OMIM:270400 OMIM:616819 ORPHA:1136 OMIM:610829 OMIM:604213 OMIM:619103 OMIM:616212 OMIM:618109 OMIM:617296 OMIM:304100 ORPHA:79243 OMIM:222448 OMIM:619074 OMIM:619775 OMIM:618959 OMIM:305450 OMIM:234050 OMIM:619025 OMIM:117550 ORPHA:85179 OMIM:245349 OMIM:619895 OMIM:610828 OMIM:210710 OMIM:607196 OMIM:619480 OMIM:615314 OMIM:617478 OMIM:619653 ORPHA:500144 ORPHA:171680 OMIM:615771 ORPHA:300570 OMIM:618346

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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