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 forebrain morphology (HP:0100547)

Parent Node:
Abnormal cerebral morphology (HP:0002060)

..Starting node
..Encephalomalacia (HP:0040197)

Term ID:

40197

Name:

Encephalomalacia

Synonym:

Cerebral softening

Definition:

Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.

Comments:

Reference:

HP:0040197

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cerebral cortex morphology (HP:0002538)

Abnormal cerebral subcortex morphology (HP:0010993)

Abnormal septum pellucidum morphology (HP:0007375)

Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Atrophy/Degeneration affecting the cerebrum (HP:0007369)

Cerebral calcification (HP:0002514)

Cerebral edema (HP:0002181)

Cerebral granulomatosis (HP:0100313)

Cerebral inclusion bodies (HP:0100314)

Diffuse cerebral sclerosis (HP:0006918)

Granulovacuolar degeneration (HP:0002528)

Leukoencephalopathy (HP:0002352)

Megalencephaly (HP:0001355)

Porencephalic cyst (HP:0002132)

Schizencephaly (HP:0010636)

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:0040197	HP:0040197	Encephalomalacia	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0040197	HP:0040197	Encephalomalacia	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	132
HP:0040197	HP:0040197	Encephalomalacia	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional
HP:0040197	HP:0040197	Encephalomalacia	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	749
HP:0040197	HP:0040197	Encephalomalacia	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0040197	HP:0040197	Encephalomalacia	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	186
HP:0040197	HP:0040197	Encephalomalacia	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0040197	HP:0040197	Encephalomalacia	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0040197	HP:0040197	Encephalomalacia	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	45
HP:0040197	HP:0040197	Encephalomalacia	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	1
HP:0040197	HP:0040197	Encephalomalacia	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	2
HP:0040197	HP:0040197	Encephalomalacia	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (12) :ABCC6 ALX4 ANGPTL6 COL3A1 DNMT3A ENG ENPP1 MICU1 MSX2 TGFBR3 THSD1 ZNFX1

Diseases (6) :ORPHA:51608 ORPHA:60015 ORPHA:231160 OMIM:615879 OMIM:615673 OMIM:619644

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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