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:
Abnormal cerebral white matter morphology (HP:0002500)

Parent Node:
Abnormal corpus callosum morphology (HP:0001273)

Parent Node:
Atrophy/Degeneration affecting the cerebrum (HP:0007369)

Parent Node:
Cerebral white matter atrophy (HP:0012762)

..Starting node
..Corpus callosum atrophy (HP:0007371)

Term ID:

7371

Name:

Corpus callosum atrophy

Synonym:

Atrophic corpus callosum; Atrophy of the corpus callosum; Atrophy/Degeneration of the corpus callosum

Definition:

The presence of atrophy (wasting) of the corpus callosum.

Comments:

Reference:

HP:0007371

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:0007371	HP:0007371	Corpus callosum atrophy	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.	4
HP:0007371	HP:0007371	Corpus callosum atrophy	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0007371	HP:0007371	Corpus callosum atrophy	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional	89
HP:0007371	HP:0007371	Corpus callosum atrophy	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0007371	HP:0007371	Corpus callosum atrophy	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive		89
HP:0007371	HP:0007371	Corpus callosum atrophy	0	ATP8A2 CL E G H	51761	13533	OMIM:615268	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4	.	24
HP:0007371	HP:0007371	Corpus callosum atrophy	0	BCAP31 CL E G H	10134	16695	ORPHA:369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	HP:0040283 - Occasional	8
HP:0007371	HP:0007371	Corpus callosum atrophy	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.	11
HP:0007371	HP:0007371	Corpus callosum atrophy	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040281 - Very frequent	141
HP:0007371	HP:0007371	Corpus callosum atrophy	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0007371	HP:0007371	Corpus callosum atrophy	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids		149
HP:0007371	HP:0007371	Corpus callosum atrophy	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0007371	HP:0007371	Corpus callosum atrophy	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0007371	HP:0007371	Corpus callosum atrophy	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040281 - Very frequent	5
HP:0007371	HP:0007371	Corpus callosum atrophy	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0007371	HP:0007371	Corpus callosum atrophy	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0007371	HP:0007371	Corpus callosum atrophy	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040282 - Frequent	30
HP:0007371	HP:0007371	Corpus callosum atrophy	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0007371	HP:0007371	Corpus callosum atrophy	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0007371	HP:0007371	Corpus callosum atrophy	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0007371	HP:0007371	Corpus callosum atrophy	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0007371	HP:0007371	Corpus callosum atrophy	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0007371	HP:0007371	Corpus callosum atrophy	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.	4
HP:0007371	HP:0007371	Corpus callosum atrophy	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0007371	HP:0007371	Corpus callosum atrophy	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0007371	HP:0007371	Corpus callosum atrophy	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0007371	HP:0007371	Corpus callosum atrophy	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	214
HP:0007371	HP:0007371	Corpus callosum atrophy	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0007371	HP:0007371	Corpus callosum atrophy	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0007371	HP:0007371	Corpus callosum atrophy	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0007371	HP:0007371	Corpus callosum atrophy	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0007371	HP:0007371	Corpus callosum atrophy	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29

Genes (28) :AIMP1 ALDH18A1 ATP8A2 BCAP31 CACNA1E CLN5 CPSF3 CSF1R DNM1L EMC1 FA2H FAR1 GBA2 GFM2 HSD17B4 IRF2BPL L2HGDH LMNB1 MAG MAN2B1 MDH2 NDUFA8 OPA1 PEX16 POLR3K STUB1 TTC5 VPS41

Diseases (30) :OMIM:260600 ORPHA:447753 ORPHA:447760 OMIM:601162 OMIM:616586 OMIM:615268 ORPHA:369939 OMIM:618285 ORPHA:228360 OMIM:619876 OMIM:221820 ORPHA:98673 OMIM:616875 ORPHA:480898 ORPHA:171629 ORPHA:320391 ORPHA:565624 OMIM:261515 OMIM:618088 OMIM:236792 OMIM:169500 OMIM:616680 OMIM:248500 OMIM:617339 OMIM:619272 OMIM:614877 OMIM:619310 ORPHA:412057 OMIM:619244 OMIM:619389

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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