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 nervous system morphology (HP:0012639)

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

..Starting node
..Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Term ID:

2977

Name:

Aplasia/Hypoplasia involving the central nervous system

Synonym:

Absent/underdeveloped central nervous system tissue; Aplasia/Hypoplasia involving the CNS

Definition:

Absence or underdevelopment of tissue in the central nervous system.

Comments:

Reference:

HP:0002977

Genes and Diseases:

Child Nodes:

........

Optic nerve hypoplasia (HP:0000609)

................... HP:0100842 Septo-optic dysplasia

........

Global brain atrophy (HP:0002283)

........

Hypoplastic olfactory lobes (HP:0006894)

........

Hypoplasia of olfactory tract (HP:0007036)

........

Aplasia/Hypoplasia of the cerebellum (HP:0007360)

................... HP:0001321 Cerebellar hypoplasia
................... HP:0012642 Cerebellar agenesis

........

Aplasia/Hypoplasia of the brainstem (HP:0007362)

................... HP:0002365 Hypoplasia of the brainstem

........

Aplasia/Hypoplasia of the pyramidal tract (HP:0007363)

................... HP:0007348 Hypoplasia of the pyramidal tract
................... HP:0100322 Aplasia of the pyramidal tract

........

Aplasia/Hypoplasia of the cerebrum (HP:0007364)

................... HP:0000252 Microcephaly
................... HP:0002323 Anencephaly
................... HP:0006872 Cerebral hypoplasia
................... HP:0007268 Aprosencephaly
................... HP:0007370 Aplasia/Hypoplasia of the corpus callosum

........

Aplasia/Hypoplasia involving the corticospinal tracts (HP:0007365)

................... HP:0007016 Corticospinal tract hypoplasia

........

Atrophy/Degeneration affecting the cerebrum (HP:0007369)

................... HP:0002059 Cerebral atrophy
................... HP:0006964 Cerebral cortical neurodegeneration
................... HP:0007313 Cerebral degeneration
................... HP:0007371 Corpus callosum atrophy
................... HP:0012157 Subcortical cerebral atrophy

........

Aplasia/Hypoplasia of the optic tract (HP:0011000)

................... HP:0007096 Hypoplasia of the optic tract
................... HP:0010999 Aplasia of the optic tract

........

Agenesis of pineal gland (HP:0012687)

........

Hypoplasia of the olfactory bulb (HP:0040326)

Sister Nodes:

Abnormal CNS myelination (HP:0011400)

Abnormal glial cell morphology (HP:0100705)

Abnormal meningeal morphology (HP:0010651)

Abnormal neural tube morphology (HP:0410043)

Abnormal subarachnoid space morphology (HP:0012703)

Abnormality of brain morphology (HP:0012443)

Abnormality of neuronal migration (HP:0002269)

Abnormality of the cerebrospinal fluid (HP:0002921)

Abnormality of the spinal cord (HP:0002143)

Alzheimer disease (HP:0002511)

Atrophy/Degeneration affecting the central nervous system (HP:0007367)

Central nervous system cyst (HP:0030724)

Encephalocele (HP:0002084)

Morphological abnormality of the pyramidal tract (HP:0002062)

Neoplasm of the central nervous system (HP:0100006)

Unusual CNS infection (HP:0011450)

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:0002977	HP:0002977	Aplasia/Hypoplasia involving the central nervous system	0	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0000609	Optic nerve hypoplasia	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0011000	Aplasia/Hypoplasia of the optic tract	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0012687	Agenesis of pineal gland	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0012110	Hypoplasia of the pons	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007362	Aplasia/Hypoplasia of the brainstem	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007364	Aplasia/Hypoplasia of the cerebrum	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0006894	Hypoplastic olfactory lobes	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0006850	Hypoplasia of the ventral pons	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007036	Hypoplasia of olfactory tract	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007360	Aplasia/Hypoplasia of the cerebellum	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007369	Atrophy/Degeneration affecting the cerebrum	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002283	Global brain atrophy	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0040326	Hypoplasia of the olfactory bulb	1	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0006872	Cerebral hypoplasia	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0012157	Subcortical cerebral atrophy	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0006955	Olivopontocerebellar hypoplasia	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0100322	Aplasia of the pyramidal tract	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002365	Hypoplasia of the brainstem	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002323	Anencephaly	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007268	Aprosencephaly	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0001321	Cerebellar hypoplasia	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007016	Corticospinal tract hypoplasia	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007313	Cerebral degeneration	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007371	Corpus callosum atrophy	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0012642	Cerebellar agenesis	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002059	Cerebral atrophy	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0006964	Cerebral cortical neurodegeneration	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007096	Hypoplasia of the optic tract	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0000252	Microcephaly	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0100842	Septo-optic dysplasia	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0010999	Aplasia of the optic tract	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007348	Hypoplasia of the pyramidal tract	2	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002951	Partial absence of cerebellar vermis	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0100307	Cerebellar hemisphere hypoplasia	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007333	Hypoplasia of the frontal lobes	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0006892	Frontotemporal cerebral atrophy	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002335	Agenesis of cerebellar vermis	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0005484	Secondary microcephaly	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002506	Diffuse cerebral atrophy	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0001274	Agenesis of corpus callosum	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002324	Hydranencephaly	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0011451	Primary microcephaly	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007132	Pallidal degeneration	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0001320	Cerebellar vermis hypoplasia	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0100954	Open operculum	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007058	Generalized cerebral atrophy/hypoplasia	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002079	Hypoplasia of the corpus callosum	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0006955	Olivopontocerebellar hypoplasia	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002340	Caudate atrophy	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007063	Aplasia of the inferior half of the cerebellar vermis	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002120	Cerebral cortical atrophy	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0002139	Arrhinencephaly	3	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0012105	Occipital cortical atrophy	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0004485	Cessation of head growth	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0001338	Partial agenesis of the corpus callosum	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0006913	Frontal cortical atrophy	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007068	Inferior vermis hypoplasia	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0007112	Temporal cortical atrophy	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0001305	Dandy-Walker malformation	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0006849	Hypodysplasia of the corpus callosum	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0100308	Cerebral cortical hemiatrophy	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0012104	Parietal cortical atrophy	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0000253	Progressive microcephaly	4	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0410170	Hippocampal atrophy	5	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HP:0002977	HP:0033715	Hippocampal sclerosis	6	ASPA CL E G H	443	271900	Spongy degeneration of central nervous system	271900	C0206307	OMIM	1	388	756	608034
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002977	HP:0002977	Aplasia/Hypoplasia involving the central nervous system	0	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007369	Atrophy/Degeneration affecting the cerebrum	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002283	Global brain atrophy	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0040326	Hypoplasia of the olfactory bulb	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007360	Aplasia/Hypoplasia of the cerebellum	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0000609	Optic nerve hypoplasia	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0011000	Aplasia/Hypoplasia of the optic tract	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0012687	Agenesis of pineal gland	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0012110	Hypoplasia of the pons	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007362	Aplasia/Hypoplasia of the brainstem	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007364	Aplasia/Hypoplasia of the cerebrum	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0006894	Hypoplastic olfactory lobes	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0006850	Hypoplasia of the ventral pons	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007036	Hypoplasia of olfactory tract	1	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0100842	Septo-optic dysplasia	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0010999	Aplasia of the optic tract	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007348	Hypoplasia of the pyramidal tract	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0000252	Microcephaly	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0012157	Subcortical cerebral atrophy	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0006955	Olivopontocerebellar hypoplasia	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0100322	Aplasia of the pyramidal tract	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007374	Atrophy/Degeneration involving the caudate nucleus	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002365	Hypoplasia of the brainstem	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002323	Anencephaly	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0006872	Cerebral hypoplasia	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007016	Corticospinal tract hypoplasia	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007313	Cerebral degeneration	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007371	Corpus callosum atrophy	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007268	Aprosencephaly	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0001321	Cerebellar hypoplasia	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002059	Cerebral atrophy	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007370	Aplasia/Hypoplasia of the corpus callosum	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0006964	Cerebral cortical neurodegeneration	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007096	Hypoplasia of the optic tract	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0012642	Cerebellar agenesis	2	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0100954	Open operculum	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007058	Generalized cerebral atrophy/hypoplasia	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002079	Hypoplasia of the corpus callosum	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0006955	Olivopontocerebellar hypoplasia	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002340	Caudate atrophy	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007063	Aplasia of the inferior half of the cerebellar vermis	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002120	Cerebral cortical atrophy	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002139	Arrhinencephaly	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0100307	Cerebellar hemisphere hypoplasia	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007333	Hypoplasia of the frontal lobes	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0006892	Frontotemporal cerebral atrophy	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002335	Agenesis of cerebellar vermis	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002951	Partial absence of cerebellar vermis	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002506	Diffuse cerebral atrophy	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0001274	Agenesis of corpus callosum	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0005484	Secondary microcephaly	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007132	Pallidal degeneration	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0001320	Cerebellar vermis hypoplasia	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0002324	Hydranencephaly	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0011451	Primary microcephaly	3	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0000253	Progressive microcephaly	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0012104	Parietal cortical atrophy	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0004485	Cessation of head growth	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0001338	Partial agenesis of the corpus callosum	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0012105	Occipital cortical atrophy	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007068	Inferior vermis hypoplasia	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0006913	Frontal cortical atrophy	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0007112	Temporal cortical atrophy	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0001305	Dandy-Walker malformation	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0006849	Hypodysplasia of the corpus callosum	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0100308	Cerebral cortical hemiatrophy	4	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0410170	Hippocampal atrophy	5	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275
HP:0002977	HP:0033715	Hippocampal sclerosis	6	NSDHL CL E G H	50814	308050	Child syndrome	308050	C0265267	OMIM	0	368	13398	300275

Genes (1277) :AAAS AARS ABAT ABCA7 ABCC8 ABCD4 ACADSB ACD ACE ACER3 ACO2 ACSL4 ACTB ACTG1 ACTG2 ACY1 ADAMTSL1 ADAR ADAT3 ADD3 ADGRG1 ADGRV1 ADK ADPRHL2 ADSL AFG3L2 AGA AGGF1 AGT AGTR1 AHCY AHDC1 AHI1 AHSG AIMP1 AIMP2 AIPL1 AKT3 ALDH18A1 ALDH1A3 ALDH3A2 ALDH6A1 ALDH7A1 ALG1 ALG11 ALG12 ALG13 ALG3 ALG9 ALMS1 ALS2 ALX1 ALX3 ALX4 AMER1 AMPD2 AMT ANK1 ANKLE2 ANKRD11 AP1S2 AP3B1 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 APP ARCN1 ARFGEF2 ARHGAP31 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ARNT2 ARSE ARSI ARV1 ARVCF ARX ASNS ASPA ASPM ASXL1 ASXL3 ATAD1 ATAD3A ATCAY ATG5 ATL1 ATP13A2 ATP2B3 ATP5F1A ATP6 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7A ATP8A2 ATPAF2 ATR ATRIP ATRX ATXN2 ATXN7 ATXN8 ATXN8OS AUH AUTS2 B3GALNT2 B3GLCT B4GALNT1 B4GALT1 B4GAT1 B9D1 B9D2 BAZ1B BCAP31 BCL11A BCOR BCR BCS1L BDNF BICD2 BLM BMP15 BMP4 BRAF BRAT1 BRCA1 BRCA2 BRF1 BRIP1 BRPF1 BSCL2 BTD BUB1 BUB1B BUB3 C12ORF57 C12ORF65 C2CD3 C9ORF72 CACNA1A CACNA1B CACNA1E CACNA1G CAMTA1 CARS2 CASK CC2D2A CCDC174 CCDC22 CCDC47 CCDC88A CD96 CDC42 CDC45 CDC6 CDCA7 CDH11 CDH23 CDK10 CDK13 CDK5 CDK5RAP2 CDK6 CDKL5 CDKN1C CDON CDT1 CENPE CENPF CENPJ CEP104 CEP120 CEP135 CEP152 CEP164 CEP290 CEP41 CEP55 CEP57 CEP63 CHAMP1 CHCHD10 CHD7 CHKB CHMP1A CHMP2B CHN1 CHRNA7 CHRNG CHUK CIB2 CISD2 CIT CIZ1 CKAP2L CLCN4 CLIP2 CLN3 CLN6 CLN8 CLP1 CLPB CLPP CLTC CNKSR2 CNNM2 CNTNAP1 COASY COG1 COG2 COG4 COG6 COG7 COL18A1 COL25A1 COL4A1 COL4A3BP COMT COPB2 COQ4 COQ9 COX1 COX15 COX2 COX3 COX7B CPA6 CPLANE1 CPLX1 CPT2 CRB1 CREBBP CRIPT CRKL CRPPA CRX CSNK2A1 CSPP1 CTBP1 CTCF CTDP1 CTNNA2 CTNNB1 CTNND2 CTNS CTSD CTSF CTU2 CUL4B CWF19L1 CYB5R3 CYFIP2 CYP11A1 CYP26C1 CYP27A1 CYP2U1 DACT1 DAG1 DARS DCC DCHS1 DCPS DCX DDB2 DDHD2 DDX11 DDX3X DDX59 DEAF1 DENND5A DGCR2 DGCR6 DGCR8 DGUOK DHCR24 DHCR7 DHDDS DHFR DHTKD1 DHX30 DIAPH1 DIS3L2 DISP1 DKC1 DLAT DLD DLL1 DLL3 DMPK DMXL2 DNA2 DNAJC13 DNAJC21 DNAJC3 DNAL4 DNM1 DNM1L DNMT1 DNMT3A DOCK6 DOCK7 DOK7 DOLK DONSON DPAGT1 DPF2 DPH1 DPM1 DPM2 DPP6 DPYD DSE DSTYK DYM DYNC1H1 DYNC2H1 DYRK1A EARS2 EBF3 EBP EDC3 EEF1A2 EFEMP2 EFNB1 EFTUD2 EGF EHMT1 EIF2AK3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EIF2S3 EIF4G1 ELAC2 ELN ELOVL4 EMC1 EMG1 EML1 EMX2 ENTPD1 EP300 EPG5 EPRS ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC6L2 ERCC8 ERF ERLIN2 ERMARD ESCO2 ESS2 EVC EVC2 EXOSC3 EXOSC8 EXOSC9 EXT1 EXTL3 FA2H FADD FAM20C FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FARSB FAT4 FBLN5 FBN1 FBXL4 FBXO11 FGF12 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FH FIG4 FKRP FKTN FLCN FLI1 FLII FLNA FLVCR2 FMR1 FOXC1 FOXE3 FOXG1 FOXH1 FRAS1 FREM1 FREM2 FRMD4A FRMPD4 FRRS1L FSHR FTO FUCA1 FUS FUZ G6PC3 GABBR2 GABRB1 GABRB2 GABRD GAD1 GALC GAS1 GATA4 GATA6 GBA GBA2 GCSH GDF1 GDF6 GFER GFM1 GIGYF2 GJA1 GJA5 GJA8 GJB2 GJB3 GJB4 GJB6 GJC2 GLB1 GLDC GLI2 GLI3 GLRX5 GLUL GLYCTK GM2A GMNN GMPPA GMPPB GNAO1 GNAQ GNPAT GORAB GP1BB GPAA1 GPC3 GPC4 GPHN GPKOW GPR161 GPSM2 GPT2 GPX4 GRIA4 GRIN1 GRIN2D GRIP1 GRM1 GRN GTF2E2 GTF2I GTF2IRD1 GTPBP2 GUCY2D GUF1 H19 H19-ICR HACE1 HBA1 HBA2 HCCS HCFC1 HCN1 HDAC4 HDAC6 HDAC8 HECW2 HEPACAM HERC1 HES7 HESX1 HHAT HIBCH HIC1 HIRA HIVEP2 HMGA2 HMGB3 HNF1B HNMT HNRNPH2 HNRNPU HOXD13 HRAS HSD17B10 HSD17B4 HSPA9 HSPD1 HSPG2 HTRA2 HTT HYLS1 IARS IBA57 ICK IER3IP1 IFIH1 IFT140 IFT172 IFT52 IFT74 IFT80 IGBP1 IGF1 IGF1R IGF2 IKBKG IMPDH1 INPP5E INPP5K INSR IQCB1 IQSEC2 IRF2BPL ITGA3 ITGB6 ITPA ITPR1 JAM3 JMJD1C JPH3 KANK1 KANSL1 KAT6A KAT6B KATNB1 KCNA2 KCNAB2 KCNB1 KCNJ11 KCNJ13 KCNJ2 KCNJ6 KCNQ1 KCNQ1OT1 KCNQ2 KCNT1 KCNT2 KCTD7 KDM1A KDM5B KDM5C KDM6A KDSR KIAA0556 KIAA0586 KIAA0753 KIAA1109 KIDINS220 KIF11 KIF14 KIF1A KIF1BP KIF1C KIF2A KIF5A KIF5C KIF7 KIT KLHL7 KMT2A KMT2B KMT2D KNL1 KRAS KYNU L1CAM L2HGDH LAGE3 LAMA1 LAMB1 LARGE1 LARP7 LARS LAS1L LCA5 LEMD3 LETM1 LFNG LHX1 LHX3 LHX4 LIAS LIG4 LIMK1 LINS1 LIPT2 LMBR1 LMNB1 LNPK LONP1 LRAT LRP2 LRP5 LRRK2 LTC4S LYRM7 MAD2L2 MAF MAFB MAG MAN2B1 MAP2K1 MAP2K2 MAPK1 MAPRE2 MAPT MARS2 MASP1 MAST1 MBD5 MBOAT7 MBTPS2 MCM4 MCOLN1 MCPH1 MCTP2 MDH2 MECP2 MED12 MED17 MED25 MEF2C MEIS2 MESP2 MFF MFSD2A MFSD8 MGAT2 MGME1 MICU1 MID1 MIPEP MIR17HG MKS1 MLH1 MLXIPL MMACHC MMADHC MOCS1 MOCS2 MOGS MPC1 MPDU1 MPL MPLKIP MRE11 MRPS16 MRPS22 MSH2 MSH6 MSMO1 MSTO1 MTFMT MTHFR MTR MTRR MUSK MVK MYCN MYH3 MYMK MYO18B MYO5A MYO7A MYOD1 NAA10 NACC1 NADK2 NAGA NALCN NANS NARS2 NAT8L NBN NCAPD3 ND1 ND4 ND5 ND6 NDE1 NDP NDUFA2 NDUFA6 NDUFA9 NDUFAF5 NDUFB11 NECAP1 NEDD4L NEK1 NEK9 NELFA NEXMIF NF1 NFIA NFIX NGLY1 NHEJ1 NHLRC2 NHP2 NIN NIPBL NKX6-2 NMNAT1 NODAL NONO NOP10 NOTCH3 NPHP1 NPHP3 NR5A1 NRAS NSD1 NSD2 NSDHL NSMCE2 NSUN2 NT5C2 NTN1 NTNG1 NTRK2 NUP107 NUP37 NUP62 NUS1 OCLN OFD1 OPHN1 ORC1 ORC4 ORC6 OSGEP OSTM1 OTUD6B OTX2 PACS1 PAFAH1B1 PAH PAK3 PALB2 PANK2 PARN PAX3 PAX6 PCCA PCCB PCDH12 PCDH15 PCK1 PCLO PCNA PCNT PCYT1A PDE6D PDGFB PDGFRB PDHA1 PDHX PDYN PDZD7 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGAP2 PGAP3 PHACTR1 PHC1 PHF6 PHGDH PI4KA PIBF1 PIEZO2 PIGA PIGG PIGH PIGL PIGN PIGO PIGP PIGS PIGT PIGV PIGY PIK3CA PIK3R2 PITX3 PLA2G6 PLAA PLEKHG2 PLG PLK4 PLP1 PLPBP PMM2 PMPCA PMPCB PMS2 PNKP PNPO POC1A POGZ POLG POLR1A POLR1C POLR3A POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU1F1 PPP1CB PPP1R15B PPP2R1A PPP2R2B PPP3CA PPT1 PQBP1 PRDM16 PRDX1 PRKAR1B PRKD1 PRKDC PRMT7 PRNP PROKR2 PROP1 PRRX1 PRUNE1 PSAP PSAT1 PSEN1 PSEN2 PSMC3IP PSPH PTCH1 PTDSS1 PTF1A PTRH2 PTS PUF60 PUS1 PUS3 PYCR1 PYCR2 QARS QDPR RAB11B RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAD50 RAD51 RAD51C RAI1 RAP1A RAP1B RAPSN RARS RARS2 RB1 RBBP8 RBM10 RBM28 RBM8A RBPJ RD3 RDH12 RECQL4 RELN REN REPS1 RERE RFC2 RFT1 RFWD3 RHOBTB2 RIPK4 RIPPLY2 RLIM RMND1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF113A RNF125 RNF135 RNF168 RNF216 RNU4ATAC ROBO1 ROBO3 ROGDI RORA RPE65 RPGRIP1 RPGRIP1L RPL10 RPS19 RPS23 RPS6KA3 RREB1 RSPO2 RSPRY1 RTEL1 RTTN RUSC2 RXYLT1 SACS SALL1 SAMD9L SAMHD1 SASS6 SATB2 SBF1 SC5D SCN1A SCN3A SCN8A SEC24C SEMA3E SEMA5A SEPSECS SERAC1 SERPINI1 SET SETBP1 SETD2 SETD5 SF3B4 SHANK3 SHH SHOC2 SHPK SHROOM4 SIL1 SIM1 SIN3A SIX3 SIX6 SKI SLC12A5 SLC12A6 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC1A2 SLC1A3 SLC1A4 SLC20A2 SLC25A1 SLC25A15 SLC25A19 SLC25A20 SLC25A22 SLC25A24 SLC2A1 SLC2A3 SLC30A10 SLC33A1 SLC35A1 SLC35A2 SLC35A3 SLC35C1 SLC39A14 SLC39A4 SLC39A8 SLC52A2 SLC52A3 SLC6A8 SLC6A9 SLC9A6 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMC1A SMC3 SMCHD1 SMG9 SMO SMOC1 SNAI2 SNAP29 SNCA SNIP1 SNRPB SNX14 SON SORL1 SOX11 SOX2 SOX3 SOX9 SP110 SPART SPATA5 SPATA7 SPECC1L SPG11 SPG21 SPG7 SPIDR SPR SPTAN1 SQSTM1 SRCAP SRD5A3 SSR4 ST3GAL5 STAC3 STAG1 STAMBP STIL STT3A STT3B STUB1 STXBP1 SUCLA2 SUCLG1 SUFU SUMF1 SYNGAP1 SYNJ1 SZT2 TAF1 TAF13 TAF2 TAF6 TANGO2 TAPT1 TARDBP TARS2 TAT TBC1D20 TBC1D23 TBC1D24 TBCD TBCE TBCK TBK1 TBL1XR1 TBL2 TBP TBX1 TBX15 TBX4 TBX6 TCF4 TCTN1 TCTN2 TCTN3 TDGF1 TDP1 TECPR2 TELO2 TERC TERT TFAP2A TGFB1 TGIF1 THOC2 THOC6 TIMM50 TINF2 TK2 TMCO1 TMEM106B TMEM107 TMEM138 TMEM165 TMEM216 TMEM231 TMEM237 TMEM260 TMEM67 TMEM70 TMTC3 TOE1 TOMM40 TP53RK TPP1 TPRKB TRAF7 TRAIP TRAK1 TRAPPC11 TRAPPC12 TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM36 TRIO TRIP13 TRIT1 TRMT10A TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNW TRPS1 TSC1 TSC2 TSEN15 TSEN2 TSEN34 TSEN54 TTC19 TTI2 TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 TUBGCP4 TUBGCP6 TUFM TULP1 TWIST1 TWNK TXN2 TYROBP UBA5 UBE2T UBE3A UBE3B UBR1 UBTF UCHL1 UFD1 UFM1 UNC80 UPB1 UPF3B USH1C USH1G USH2A USP18 USP9X VAC14 VANGL1 VANGL2 VARS VARS2 VAX1 VCP VHL VIPAS39 VLDLR VPS11 VPS13A VPS13B VPS13C VPS33B VPS35 VPS37A VPS53 VRK1 VWA3B WAC WARS2 WASHC5 WDFY3 WDPCP WDR11 WDR26 WDR34 WDR35 WDR4 WDR45 WDR45B WDR60 WDR62 WDR73 WDR81 WFS1 WHCR WHRN WNT1 WNT3 WT1 WWOX XPA XPC XPR1 XRCC2 XRCC4 YARS2 YME1L1 YWHAE YWHAG ZBTB16 ZBTB18 ZBTB20 ZC4H2 ZDHHC9 ZEB2 ZFR ZFYVE26 ZIC1 ZIC2 ZNF148 ZNF335 ZNF423 ZNF592 ZNHIT3 ZSWIM6

Diseases (1453) :271900 308050 606854 231178 88618 260600 615113 324422 608776 64 261250 1568 617523 1465 3157 615574 496790 98760 588 615181 616202 1052 275872 163937 300749 1454 7 231169 3095 243605 138 550 2754 614643 615033 818 615879 615859 1493 1466 600775 609053 93262 613153 236670 88632 609060 2710 610829 36 615350 615501 2570 617864 199 182230 2612 261515 617914 79314 236792 613154 280 615280 85284 228384 1358 79279 649 990 610125 234200 137902 106210 165550 608027 214100 60040 612953 2518 79096 613151 617506 282166 603218 611722 65288 609069 508488 614225 257320 300953 137634 607313 192 2585 614306 206900 85278 2250 616920 500150 140 370938 609056 412057 94124 614969 617669 225 277470 225753 613180 300570 478029 616811 616801 614402 892 607596 83472 610185 615220 1827 869 231550 442835 616339 613163 276575 614857 610006 3322 616553 267430 617762 300387 243310 2995 2604 137754 609924 521445 225154 51 615010 615286 617008 614300 618170 46 103050 313772 208400 90308 475 2850 618006 65 447753 447760 616603 616586 816 614105 79327 608540 613661 300884 79321 601110 263210 391474 613451 251066 2512 616681 2332 148050 85329 608233 617276 617050 280763 614066 613744 612936 614067 821 617164 100300 251056 135900 302950 401815 567 452 2508 308350 300004 608716 97297 605039 615485 618011 94122 617584 314978 616045 615228 300423 357074 219200 278250 618012 565 309400 615268 604273 808 210600 847 301040 309580 98756 94147 67046 250950 615834 899 709 261540 615287 564 614175 904 369939 300475 617101 568 309800 300166 261330 124000 893 618291 125 210900 243 139471 607932 115150 618056 84 605724 617333 363400 615924 257300 1777 615948 105550 618285 618087 314647 614756 616672 2318 216360 612284 300963 618268 211750 1308 616737 2554 613805 616910 1299 617360 616342 604804 616080 280200 95496 614226 613804 616051 608393 613676 616781 616300 614673 614852 613823 610188 611134 236500 614114 614728 616579 214800 602541 614961 233 199318 2990 613630 617090 272440 3255 204200 204300 600143 610003 616271 614129 34527 616418 618186 616286 618266 611209 263501 85172 613489 614576 615328 608779 267750 617800 616276 614654 615119 2556 309801 300887 194190 608836 180849 615789 370980 617062 397715 615636 615502 604168 618174 615075 281 219800 610127 618142 85293 616127 250800 618008 398189 213700 63260 616459 910 613398 457260 300958 2919 819 192430 251880 35107 602398 270400 613839 204750 617804 616632 305000 245348 2394 246900 2311 160900 616113 615807 617052 445062 616192 616346 614388 314404 614116 614219 208150 251230 86309 608093 79322 615042 2514 616311 274270 615539 270750 239 223800 607326 614563 93271 614104 617330 616460 614437 1520 610536 96147 610253 1667 226980 85282 300148 615440 194050 614457 616875 1270 211180 401810 615683 613684 242840 617951 610758 220295 610756 601675 278730 610651 615272 278760 610965 616570 278780 214150 133540 278800 615715 216400 207 75857 3103 269000 268300 614678 618065 502 171629 306550 613759 1832 259775 227650 227645 227646 600901 614082 616154 614946 613658 219100 2462 615471 618089 2396 613001 2117 615465 190440 85165 610474 606812 3472 216340 606612 253800 272 610883 2308 90652 225790 261144 2052 219000 614485 616819 616981 612938 230000 612541 617903 1606 603513 251071 600001 230900 608013 320391 352641 614409 164200 317 612474 477 608804 230600 230500 95494 672 220120 309246 272750 363623 615351 615352 615473 617493 222765 231070 617810 604213 477673 616281 93317 614254 617162 616943 464282 616756 98791 309541 1001 163966 300882 617268 613925 226307 1422 616977 94063 300915 261265 616739 238769 617391 887 218040 800 617248 617435 236680 617093 615330 612651 614231 615846 266920 617119 73272 608747 73273 270450 308300 213300 559 617404 508 618088 614748 616647 206700 613730 612900 610443 457193 616268 3047 85201 606170 603736 616212 276580 170390 435628 614098 439218 614959 263516 611726 85279 300534 2322 147920 300867 616784 616546 617822 617296 2526 152950 616258 2836 614255 66629 609460 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Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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