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 myelination (HP:0012447)

Grandparent Node:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal CNS myelination (HP:0011400)

..Starting node
..CNS hypomyelination (HP:0003429)

Term ID:

3429

Name:

CNS hypomyelination

Synonym:

hypomyelination

Definition:

Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.

Comments:

Reference:

HP:0003429

Genes and Diseases:

Child Nodes:

........

Cerebral hypomyelination (HP:0006808)

Sister Nodes:

Cerebral dysmyelination (HP:0007266)

CNS demyelination (HP:0007305)

CNS hypermyelination (HP:0012754)

Delayed CNS myelination (HP:0002188)

Leukodystrophy (HP:0002415)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003429	HP:0003429	CNS hypomyelination	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0003429	HP:0003429	CNS hypomyelination	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	582	291	608222
HP:0003429	HP:0003429	CNS hypomyelination	0	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	368	291	608222
HP:0003429	HP:0003429	CNS hypomyelination	0	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0003429	HP:0003429	CNS hypomyelination	0	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0003429	HP:0003429	CNS hypomyelination	0	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	79	851	607027
HP:0003429	HP:0003429	CNS hypomyelination	0	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	93	851	607027
HP:0003429	HP:0003429	CNS hypomyelination	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	216	8011	602346
HP:0003429	HP:0003429	CNS hypomyelination	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	158	8011	602346
HP:0003429	HP:0003429	CNS hypomyelination	0	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0003429	HP:0003429	CNS hypomyelination	0	DDOST CL E G H	1650	300536				ORPHA	1	179	2728	602202
HP:0003429	HP:0003429	CNS hypomyelination	0	DDOST CL E G H	1650	300536				ORPHA	1	154	2728	602202
HP:0003429	HP:0003429	CNS hypomyelination	0	GAN CL E G H	8139	643				ORPHA	1	533	4137	605379
HP:0003429	HP:0003429	CNS hypomyelination	0	GAN CL E G H	8139	643				ORPHA	1	594	4137	605379
HP:0003429	HP:0003429	CNS hypomyelination	0	GDAP1 CL E G H	54332	214400	Charcot-Marie-Tooth disease, type 4A	214400	C1859198	OMIM	1	444	15968	606598
HP:0003429	HP:0003429	CNS hypomyelination	0	GDAP1 CL E G H	54332	214400	Charcot-Marie-Tooth disease, type 4A	214400	C1859198	OMIM	1	423	15968	606598
HP:0003429	HP:0003429	CNS hypomyelination	0	GJC2 CL E G H	57165	320401				ORPHA	1	174	17494	608803
HP:0003429	HP:0003429	CNS hypomyelination	0	GJC2 CL E G H	57165	320401				ORPHA	1	221	17494	608803
HP:0003429	HP:0003429	CNS hypomyelination	0	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	207	4341	138290
HP:0003429	HP:0003429	CNS hypomyelination	0	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	192	4341	138290
HP:0003429	HP:0003429	CNS hypomyelination	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	119	19321	605955
HP:0003429	HP:0003429	CNS hypomyelination	0	NKX6-2 CL E G H	84504	527497				ORPHA	1	151	19321	605955
HP:0003429	HP:0003429	CNS hypomyelination	0	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	342	8855	601789
HP:0003429	HP:0003429	CNS hypomyelination	0	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	234	8855	601789
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR1C CL E G H	9533	88637				ORPHA	1	1019	20194	610060
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR1C CL E G H	9533	88637				ORPHA	1	1131	20194	610060
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3A CL E G H	11128	88637				ORPHA	1	654	30074	614258
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3A CL E G H	11128	447896				ORPHA	1	654	30074	614258
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3A CL E G H	11128	88637				ORPHA	1	484	30074	614258
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3A CL E G H	11128	447896				ORPHA	1	484	30074	614258
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	654	30074	614258
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	484	30074	614258
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3B CL E G H	55703	88637				ORPHA	1	297	30348	614366
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3B CL E G H	55703	88637				ORPHA	1	326	30348	614366
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	326	30348	614366
HP:0003429	HP:0003429	CNS hypomyelination	0	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	297	30348	614366
HP:0003429	HP:0003429	CNS hypomyelination	0	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	329	9701	600473
HP:0003429	HP:0003429	CNS hypomyelination	0	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	312	9701	600473
HP:0003429	HP:0003429	CNS hypomyelination	0	PYCR2 CL E G H	29920	616420	Leukodystrophy, hypomyelinating, 10	616420	C4225332	OMIM	1	77	30262	616406
HP:0003429	HP:0003429	CNS hypomyelination	0	PYCR2 CL E G H	29920	616420	Leukodystrophy, hypomyelinating, 10	616420	C4225332	OMIM	1	89	30262	616406
HP:0003429	HP:0003429	CNS hypomyelination	0	QARS CL E G H	5859	615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	615760	C4014239	OMIM	1		9751	603727
HP:0003429	HP:0003429	CNS hypomyelination	0	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	180	21176	614917
HP:0003429	HP:0003429	CNS hypomyelination	0	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	155	21176	614917
HP:0003429	HP:0003429	CNS hypomyelination	0	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	126	95	603690
HP:0003429	HP:0003429	CNS hypomyelination	0	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	101	95	603690
HP:0003429	HP:0003429	CNS hypomyelination	0	SNIP1 CL E G H	79753	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	614501	C3281055	OMIM	1	99	30587	608241
HP:0003429	HP:0003429	CNS hypomyelination	0	SNIP1 CL E G H	79753	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	614501	C3281055	OMIM	1	34	30587	608241
HP:0003429	HP:0003429	CNS hypomyelination	0	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	1532	11273	182810
HP:0003429	HP:0003429	CNS hypomyelination	0	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	1341	11273	182810
HP:0003429	HP:0003429	CNS hypomyelination	0	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	303	11581	604649
HP:0003429	HP:0003429	CNS hypomyelination	0	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	362	11581	604649
HP:0003429	HP:0033846	Spinal hypomyelination	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0003429	HP:0006808	Cerebral hypomyelination	1	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0003429	HP:0033846	Spinal hypomyelination	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	582	291	608222
HP:0003429	HP:0033846	Spinal hypomyelination	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	368	291	608222
HP:0003429	HP:0006808	Cerebral hypomyelination	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	582	291	608222
HP:0003429	HP:0006808	Cerebral hypomyelination	1	ADSL CL E G H	158	103050	Adenylosuccinate lyase deficiency	103050	C0268126	OMIM	1	368	291	608222
HP:0003429	HP:0033846	Spinal hypomyelination	1	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0003429	HP:0006808	Cerebral hypomyelination	1	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0003429	HP:0006808	Cerebral hypomyelination	1	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0003429	HP:0033846	Spinal hypomyelination	1	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0003429	HP:0006808	Cerebral hypomyelination	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	79	851	607027
HP:0003429	HP:0033846	Spinal hypomyelination	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	93	851	607027
HP:0003429	HP:0033846	Spinal hypomyelination	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	79	851	607027
HP:0003429	HP:0006808	Cerebral hypomyelination	1	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	93	851	607027
HP:0003429	HP:0033846	Spinal hypomyelination	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	158	8011	602346
HP:0003429	HP:0006808	Cerebral hypomyelination	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	216	8011	602346
HP:0003429	HP:0006808	Cerebral hypomyelination	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	158	8011	602346
HP:0003429	HP:0033846	Spinal hypomyelination	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	216	8011	602346
HP:0003429	HP:0033846	Spinal hypomyelination	1	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0003429	HP:0006808	Cerebral hypomyelination	1	DARS CL E G H	1615	615281	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	615281	C3809008	OMIM	1		2678	603084
HP:0003429	HP:0033846	Spinal hypomyelination	1	DDOST CL E G H	1650	300536				ORPHA	1	154	2728	602202
HP:0003429	HP:0006808	Cerebral hypomyelination	1	DDOST CL E G H	1650	300536				ORPHA	1	179	2728	602202
HP:0003429	HP:0006808	Cerebral hypomyelination	1	DDOST CL E G H	1650	300536				ORPHA	1	154	2728	602202
HP:0003429	HP:0033846	Spinal hypomyelination	1	DDOST CL E G H	1650	300536				ORPHA	1	179	2728	602202
HP:0003429	HP:0006808	Cerebral hypomyelination	1	GAN CL E G H	8139	643				ORPHA	1	533	4137	605379
HP:0003429	HP:0033846	Spinal hypomyelination	1	GAN CL E G H	8139	643				ORPHA	1	594	4137	605379
HP:0003429	HP:0033846	Spinal hypomyelination	1	GAN CL E G H	8139	643				ORPHA	1	533	4137	605379
HP:0003429	HP:0006808	Cerebral hypomyelination	1	GAN CL E G H	8139	643				ORPHA	1	594	4137	605379
HP:0003429	HP:0006808	Cerebral hypomyelination	1	GDAP1 CL E G H	54332	214400	Charcot-Marie-Tooth disease, type 4A	214400	C1859198	OMIM	1	444	15968	606598
HP:0003429	HP:0006808	Cerebral hypomyelination	1	GDAP1 CL E G H	54332	214400	Charcot-Marie-Tooth disease, type 4A	214400	C1859198	OMIM	1	423	15968	606598
HP:0003429	HP:0033846	Spinal hypomyelination	1	GDAP1 CL E G H	54332	214400	Charcot-Marie-Tooth disease, type 4A	214400	C1859198	OMIM	1	444	15968	606598
HP:0003429	HP:0033846	Spinal hypomyelination	1	GDAP1 CL E G H	54332	214400	Charcot-Marie-Tooth disease, type 4A	214400	C1859198	OMIM	1	423	15968	606598
HP:0003429	HP:0006808	Cerebral hypomyelination	1	GJC2 CL E G H	57165	320401				ORPHA	1	174	17494	608803
HP:0003429	HP:0033846	Spinal hypomyelination	1	GJC2 CL E G H	57165	320401				ORPHA	1	221	17494	608803
HP:0003429	HP:0033846	Spinal hypomyelination	1	GJC2 CL E G H	57165	320401				ORPHA	1	174	17494	608803
HP:0003429	HP:0006808	Cerebral hypomyelination	1	GJC2 CL E G H	57165	320401				ORPHA	1	221	17494	608803
HP:0003429	HP:0033846	Spinal hypomyelination	1	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	207	4341	138290
HP:0003429	HP:0033846	Spinal hypomyelination	1	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	192	4341	138290
HP:0003429	HP:0006808	Cerebral hypomyelination	1	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	207	4341	138290
HP:0003429	HP:0006808	Cerebral hypomyelination	1	GLUL CL E G H	2752	610015	Glutamine deficiency, congenital	610015	C1864910	OMIM	1	192	4341	138290
HP:0003429	HP:0006808	Cerebral hypomyelination	1	NKX6-2 CL E G H	84504	527497				ORPHA	1	119	19321	605955
HP:0003429	HP:0033846	Spinal hypomyelination	1	NKX6-2 CL E G H	84504	527497				ORPHA	1	151	19321	605955
HP:0003429	HP:0033846	Spinal hypomyelination	1	NKX6-2 CL E G H	84504	527497				ORPHA	1	119	19321	605955
HP:0003429	HP:0006808	Cerebral hypomyelination	1	NKX6-2 CL E G H	84504	527497				ORPHA	1	151	19321	605955
HP:0003429	HP:0033846	Spinal hypomyelination	1	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	342	8855	601789
HP:0003429	HP:0033846	Spinal hypomyelination	1	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	234	8855	601789
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	342	8855	601789
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PEX13 CL E G H	5194	614883	Peroxisome biogenesis disorder 11A	614883	C3554000	OMIM	1	234	8855	601789
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR1C CL E G H	9533	88637				ORPHA	1	1019	20194	610060
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR1C CL E G H	9533	88637				ORPHA	1	1131	20194	610060
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR1C CL E G H	9533	88637				ORPHA	1	1019	20194	610060
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR1C CL E G H	9533	88637				ORPHA	1	1131	20194	610060
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR3A CL E G H	11128	88637				ORPHA	1	484	30074	614258
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR3A CL E G H	11128	447896				ORPHA	1	484	30074	614258
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3A CL E G H	11128	88637				ORPHA	1	654	30074	614258
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3A CL E G H	11128	447896				ORPHA	1	654	30074	614258
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3A CL E G H	11128	88637				ORPHA	1	484	30074	614258
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3A CL E G H	11128	447896				ORPHA	1	484	30074	614258
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR3A CL E G H	11128	88637				ORPHA	1	654	30074	614258
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR3A CL E G H	11128	447896				ORPHA	1	654	30074	614258
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	654	30074	614258
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	484	30074	614258
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	654	30074	614258
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3A CL E G H	11128	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	484	30074	614258
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3B CL E G H	55703	88637				ORPHA	1	297	30348	614366
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR3B CL E G H	55703	88637				ORPHA	1	326	30348	614366
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR3B CL E G H	55703	88637				ORPHA	1	297	30348	614366
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3B CL E G H	55703	88637				ORPHA	1	326	30348	614366
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	326	30348	614366
HP:0003429	HP:0006808	Cerebral hypomyelination	1	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	297	30348	614366
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	326	30348	614366
HP:0003429	HP:0033846	Spinal hypomyelination	1	POLR3B CL E G H	55703	607694	Hypomyelinating leukodystrophy 7	607694	C2676243	OMIM	1	297	30348	614366
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	329	9701	600473
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	312	9701	600473
HP:0003429	HP:0033846	Spinal hypomyelination	1	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	329	9701	600473
HP:0003429	HP:0033846	Spinal hypomyelination	1	PURA CL E G H	5813	616158	Mental retardation, autosomal dominant 31	616158	C4015357	OMIM	1	312	9701	600473
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PYCR2 CL E G H	29920	616420	Leukodystrophy, hypomyelinating, 10	616420	C4225332	OMIM	1	77	30262	616406
HP:0003429	HP:0033846	Spinal hypomyelination	1	PYCR2 CL E G H	29920	616420	Leukodystrophy, hypomyelinating, 10	616420	C4225332	OMIM	1	89	30262	616406
HP:0003429	HP:0033846	Spinal hypomyelination	1	PYCR2 CL E G H	29920	616420	Leukodystrophy, hypomyelinating, 10	616420	C4225332	OMIM	1	77	30262	616406
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PYCR2 CL E G H	29920	616420	Leukodystrophy, hypomyelinating, 10	616420	C4225332	OMIM	1	89	30262	616406
HP:0003429	HP:0033846	Spinal hypomyelination	1	QARS CL E G H	5859	615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	615760	C4014239	OMIM	1		9751	603727
HP:0003429	HP:0006808	Cerebral hypomyelination	1	QARS CL E G H	5859	615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	615760	C4014239	OMIM	1		9751	603727
HP:0003429	HP:0006808	Cerebral hypomyelination	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	180	21176	614917
HP:0003429	HP:0006808	Cerebral hypomyelination	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	155	21176	614917
HP:0003429	HP:0033846	Spinal hypomyelination	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	180	21176	614917
HP:0003429	HP:0033846	Spinal hypomyelination	1	RMND1 CL E G H	55005	614922	Combined oxidative phosphorylation deficiency 11	614922	C3554067	OMIM	1	155	21176	614917
HP:0003429	HP:0033846	Spinal hypomyelination	1	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	126	95	603690
HP:0003429	HP:0033846	Spinal hypomyelination	1	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	101	95	603690
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	126	95	603690
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SLC33A1 CL E G H	9197	614482	Congenital cataracts, hearing loss, and neurodegeneration	614482	C3280965	OMIM	1	101	95	603690
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SNIP1 CL E G H	79753	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	614501	C3281055	OMIM	1	99	30587	608241
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SNIP1 CL E G H	79753	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	614501	C3281055	OMIM	1	34	30587	608241
HP:0003429	HP:0033846	Spinal hypomyelination	1	SNIP1 CL E G H	79753	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	614501	C3281055	OMIM	1	99	30587	608241
HP:0003429	HP:0033846	Spinal hypomyelination	1	SNIP1 CL E G H	79753	614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	614501	C3281055	OMIM	1	34	30587	608241
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	1532	11273	182810
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	1341	11273	182810
HP:0003429	HP:0033846	Spinal hypomyelination	1	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	1532	11273	182810
HP:0003429	HP:0033846	Spinal hypomyelination	1	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	1341	11273	182810
HP:0003429	HP:0006808	Cerebral hypomyelination	1	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	303	11581	604649
HP:0003429	HP:0033846	Spinal hypomyelination	1	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	362	11581	604649
HP:0003429	HP:0033846	Spinal hypomyelination	1	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	303	11581	604649
HP:0003429	HP:0006808	Cerebral hypomyelination	1	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	362	11581	604649
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003429	HP:0003429	CNS hypomyelination	0	INTU CL E G H	27152	617926	OROFACIODIGITAL SYNDROME XVII	617926	CN902091	OMIM	0	79	29239	610621
HP:0003429	HP:0003429	CNS hypomyelination	0	INTU CL E G H	27152	617926	OROFACIODIGITAL SYNDROME XVII	617926	CN902091	OMIM	0	61	29239	610621
HP:0003429	HP:0003429	CNS hypomyelination	0	PRKDC CL E G H	5591	615966	Immunodeficiency 26 with or without neurologic abnormalities	615966	C4014833	OMIM	0	1310	9413	600899
HP:0003429	HP:0003429	CNS hypomyelination	0	PRKDC CL E G H	5591	615966	Immunodeficiency 26 with or without neurologic abnormalities	615966	C4014833	OMIM	0	983	9413	600899
HP:0003429	HP:0003429	CNS hypomyelination	0	SPATA5 CL E G H	166378	616577	Epilepsy, hearing loss, and mental retardation syndrome	616577	C4225276	OMIM	0	566	18119	613940
HP:0003429	HP:0003429	CNS hypomyelination	0	SPATA5 CL E G H	166378	616577	Epilepsy, hearing loss, and mental retardation syndrome	616577	C4225276	OMIM	0	467	18119	613940
HP:0003429	HP:0003429	CNS hypomyelination	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	573	25751	614138
HP:0003429	HP:0003429	CNS hypomyelination	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	673	25751	614138
HP:0003429	HP:0033846	Spinal hypomyelination	1	INTU CL E G H	27152	617926	OROFACIODIGITAL SYNDROME XVII	617926	CN902091	OMIM	0	61	29239	610621
HP:0003429	HP:0006808	Cerebral hypomyelination	1	INTU CL E G H	27152	617926	OROFACIODIGITAL SYNDROME XVII	617926	CN902091	OMIM	0	79	29239	610621
HP:0003429	HP:0006808	Cerebral hypomyelination	1	INTU CL E G H	27152	617926	OROFACIODIGITAL SYNDROME XVII	617926	CN902091	OMIM	0	61	29239	610621
HP:0003429	HP:0033846	Spinal hypomyelination	1	INTU CL E G H	27152	617926	OROFACIODIGITAL SYNDROME XVII	617926	CN902091	OMIM	0	79	29239	610621
HP:0003429	HP:0033846	Spinal hypomyelination	1	PRKDC CL E G H	5591	615966	Immunodeficiency 26 with or without neurologic abnormalities	615966	C4014833	OMIM	0	1310	9413	600899
HP:0003429	HP:0033846	Spinal hypomyelination	1	PRKDC CL E G H	5591	615966	Immunodeficiency 26 with or without neurologic abnormalities	615966	C4014833	OMIM	0	983	9413	600899
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PRKDC CL E G H	5591	615966	Immunodeficiency 26 with or without neurologic abnormalities	615966	C4014833	OMIM	0	1310	9413	600899
HP:0003429	HP:0006808	Cerebral hypomyelination	1	PRKDC CL E G H	5591	615966	Immunodeficiency 26 with or without neurologic abnormalities	615966	C4014833	OMIM	0	983	9413	600899
HP:0003429	HP:0033846	Spinal hypomyelination	1	SPATA5 CL E G H	166378	616577	Epilepsy, hearing loss, and mental retardation syndrome	616577	C4225276	OMIM	0	467	18119	613940
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SPATA5 CL E G H	166378	616577	Epilepsy, hearing loss, and mental retardation syndrome	616577	C4225276	OMIM	0	566	18119	613940
HP:0003429	HP:0006808	Cerebral hypomyelination	1	SPATA5 CL E G H	166378	616577	Epilepsy, hearing loss, and mental retardation syndrome	616577	C4225276	OMIM	0	467	18119	613940
HP:0003429	HP:0033846	Spinal hypomyelination	1	SPATA5 CL E G H	166378	616577	Epilepsy, hearing loss, and mental retardation syndrome	616577	C4225276	OMIM	0	566	18119	613940
HP:0003429	HP:0006808	Cerebral hypomyelination	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	573	25751	614138
HP:0003429	HP:0033846	Spinal hypomyelination	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	673	25751	614138
HP:0003429	HP:0033846	Spinal hypomyelination	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	573	25751	614138
HP:0003429	HP:0006808	Cerebral hypomyelination	1	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	0	673	25751	614138

Genes (42) :AARS ADSL AHCY ATP6V1A BCAP31 CNTNAP1 DARS DDOST EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 FAM126A GAN GDAP1 GJC2 GLUL INTU NKX6-2 PEX13 PHGDH POLR1C POLR3A POLR3B PRKDC PURA PYCR2 QARS RARS RMND1 SLC25A12 SLC33A1 SNIP1 SOX10 SPATA5 SPTAN1 STXBP1 TBCD TRAPPC11 TUBB4A VPS11

Diseases (41) :616339 103050 88618 618012 618186 615281 300536 643 214400 320401 610015 617926 527497 614883 88637 447896 607694 615966 616158 616420 615760 614922 614482 614501 616577 613477 617193 615356 369939 300475 603896 85163 608804 79351 614381 438114 612949 611584 612164 612438 616683

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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