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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormality of brain morphology (HP:0012443)

..Starting node
..Abnormal midbrain morphology (HP:0002418)

Term ID:

2418

Name:

Abnormal midbrain morphology

Synonym:

Abnormal shape of midbrain; Abnormality of midbrain morphology; Abnormality of the mesencephalon; Abnormality of the midbrain

Definition:

An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.

Comments:

Reference:

HP:0002418

Genes and Diseases:

Child Nodes:

........

Molar tooth sign on MRI (HP:0002419)

........

Absent mesencephalon (HP:0007265)

........

Abnormality of the substantia nigra (HP:0045007)

................... HP:0011960 Substantia nigra gliosis
................... HP:0012678 Iron accumulation in substantia nigra

Sister Nodes:

Abnormal brainstem morphology (HP:0002363)

Abnormal cerebral vascular morphology (HP:0100659)

Abnormal cerebral ventricle morphology (HP:0002118)

Abnormal pineal morphology (HP:0012681)

Abnormality of forebrain morphology (HP:0100547)

Abnormality of hindbrain morphology (HP:0011282)

Abnormality of the pituitary gland (HP:0012503)

Copper accumulation in brain (HP:0012676)

Holoprosencephaly (HP:0001360)

Iron accumulation in brain (HP:0012675)

Kernicterus (HP:0001343)

obsolete Brain very small (HP:0001322)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002418	HP:0002418	Abnormal midbrain morphology	0	CL E G H
HP:0002418	HP:0033679	Abnormal red nucleus morphology	1	CL E G H
HP:0002418	HP:0002419	Molar tooth sign on MRI	1	CL E G H
HP:0002418	HP:0045007	Abnormal substantia nigra morphology	1	CL E G H
HP:0002418	HP:0007265	Absent mesencephalon	1	CL E G H
HP:0002418	HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	2	CL E G H
HP:0002418	HP:0011960	Substantia nigra gliosis	2	CL E G H
HP:0002418	HP:0012678	Iron accumulation in substantia nigra	2	CL E G H
HP:0002418	HP:0033249	Focal substantia nigra T2 hyperintensity	2	CL E G H

Genes (43) :AHI1 ARL13B ATXN2 ATXN3 B9D1 B9D2 C19ORF12 C2CD3 CC2D2A CEP104 CEP120 CEP290 CEP41 CPLANE1 CSPP1 FBXO7 GCH1 INPP5E KIAA0586 KIAA0753 KIF7 MKS1 NPHP1 NR4A2 OFD1 PDE6D PIBF1 PRKN RPGRIP1L SNCA SNCAIP SUFU TBCE TCTN1 TCTN3 TMEM107 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 WDR45 ZNF423

Diseases (49) :220493 608629 612291 98756 617120 614175 289560 615948 2318 216360 612285 616781 617761 616300 610188 611134 614464 2754 277170 397715 98808 213300 616546 617127 614120 607131 220497 609583 300804 615665 617767 611560 617757 614173 614815 617562 617563 614465 608091 614970 610688 276244 276238 276241 171695 168600 600116 496756 329284

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

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