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 white matter morphology (HP:0002500)

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

..Starting node
..Dysplastic corpus callosum (HP:0006989)

Term ID:

6989

Name:

Dysplastic corpus callosum

Synonym:

Dysgenesis of corpus callosum; Dysplasia of corpus callosum

Definition:

Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.

Comments:

Reference:

HP:0006989

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal length of corpus callosum (HP:0200011)

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

Corpus callosum atrophy (HP:0007371)

Pericallosal lipoma (HP:0006931)

Thick corpus callosum (HP:0007074)

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:0006989	HP:0006989	Dysplastic corpus callosum	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	HP:0040284 - Very rare	1
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0006989	HP:0006989	Dysplastic 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:0006989	HP:0006989	Dysplastic corpus callosum	0	KIAA0586 CL E G H	9786	19960	OMIM:616490	Joubert syndrome 23	HP:0040283 - Occasional	24
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	PIGH CL E G H	5283	8964	OMIM:618010	Glycosylphosphatidylinositol biosynthesis defect 17	HP:0040284 - Very rare	1
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	RTTN CL E G H	25914	18654	OMIM:614833	Microcephaly, short stature, and polymicrogyria with or without seizures		113
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040283 - Occasional
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040282 - Frequent	1
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0006989	HP:0006989	Dysplastic corpus callosum	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040283 - Occasional	21

Genes (39) :AGTPBP1 ATAD3A ATPAF2 C2ORF69 DCHS1 DDB1 EARS2 FAT4 GPSM2 HSPA9 KAT5 KIAA0586 LMNB1 MCOLN1 NDUFB7 NONO NSRP1 NT5C2 ODC1 PIGH PIK3C2A PLXNA1 PPP1R12A PRORP PUS3 RTTN SEPSECS SIN3A SIN3B SON SVBP TBCK THOC6 TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBA8

Diseases (36) :OMIM:618276 OMIM:618810 OMIM:604273 OMIM:619423 ORPHA:314679 OMIM:619426 OMIM:614924 OMIM:604213 OMIM:616854 OMIM:619103 OMIM:616490 OMIM:619179 OMIM:252650 OMIM:620135 ORPHA:466791 OMIM:300967 OMIM:620001 OMIM:613162 ORPHA:544488 OMIM:618010 ORPHA:557003 OMIM:619955 OMIM:618820 OMIM:619737 ORPHA:488627 OMIM:614833 ORPHA:2524 ORPHA:500166 OMIM:613406 ORPHA:500150 OMIM:617140 OMIM:618569 OMIM:616900 ORPHA:363444 ORPHA:171680 ORPHA:250972

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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