Human Phenotype Ontology

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:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract		1
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin		255
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome		6
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0012429	HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0012429	HP:0200017	Cerebral white matter agenesis	1	CL E G H
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	NACC1 CL E G H	112939	20967	ORPHA:500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	HP:0040283 - Occasional	1
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040282 - Frequent	27
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional	255
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040282 - Frequent	6
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent	2
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0012429	HP:0012430	Cerebral white matter hypoplasia	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362