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

Human Phenotype Ontology

Grandparent Node:
Abnormal nervous system morphology (HP:0012639)

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

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..Starting node
..Abnormality of brain morphology (HP:0012443)

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Term ID:	12443
Name:	Abnormality of brain morphology
Synonym:	Abnormal shape of brain; Abnormality of the brain
Definition:	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
Comments:
Reference:	HP:0012443
Genes and Diseases:	There are 548 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Brain very small (HP:0001322) ................... HP:0012444 Brain atrophy
........Kernicterus (HP:0001343)
........Holoprosencephaly (HP:0001360) ................... HP:0002507 Semilobar holoprosencephaly ................... HP:0006870 Lobar holoprosencephaly ................... HP:0006988 Alobar holoprosencephaly ................... HP:0030779 Ethmocephaly
........Abnormality of the cerebral ventricles (HP:0002118) ................... HP:0000238 Hydrocephalus ................... HP:0002119 Ventriculomegaly ................... HP:0002410 Aqueductal stenosis ................... HP:0002416 Subependymal cysts ................... HP:0007376 Abnormality of the choroid plexus ................... HP:0009716 Subependymal nodules ................... HP:0010950 Abnormality of the fourth ventricle ................... HP:0010951 Abnormality of the third ventricle ................... HP:0030047 Abnormality of lateral ventricle ................... HP:0100311 Cerebral ventricular adhesions ................... HP:0100960 Asymmetric ventricles
........Abnormality of brainstem morphology (HP:0002363) ................... HP:0002508 Brainstem dysplasia ................... HP:0002512 Brain stem compression ................... HP:0007361 Abnormality of the pons ................... HP:0007362 Aplasia/Hypoplasia of the brainstem ................... HP:0007366 Atrophy/Degeneration affecting the brainstem ................... HP:0011441 Abnormality of the medulla oblongata ................... HP:0012501 Abnormality of the brainstem white matter ................... HP:0012747 Abnormal brainstem MRI signal intensity ................... HP:0012755 Enlarged brainstem ................... HP:0012793 Kinked brainstem
........Abnormality of midbrain morphology (HP:0002418) ................... HP:0002419 Molar tooth sign on MRI ................... HP:0007265 Absent mesencephalon ................... HP:0045007 Abnormality of the substantia nigra
........Abnormality of hindbrain morphology (HP:0011282) ................... HP:0011283 Abnormality of the metencephalon ................... HP:0011441 Abnormality of the medulla oblongata
........Abnormality of the pituitary gland (HP:0012503) ................... HP:0011747 Abnormality of the anterior pituitary ................... HP:0011751 Abnormality of the posterior pituitary ................... HP:0012504 Abnormal size of pituitary gland ................... HP:0031097 Abnormal thyroid-stimulating hormone level ................... HP:0040278 Prolactinoma
........Iron accumulation in brain (HP:0012675) ................... HP:0012677 Iron accumulation in globus pallidus ................... HP:0012678 Iron accumulation in substantia nigra
........Copper accumulation in brain (HP:0012676)
........Abnormality of pineal morphology (HP:0012681) ................... HP:0012682 Pineal gland calcification ................... HP:0012683 Pineal cyst ................... HP:0012684 Abnormal pineal volume ................... HP:0012687 Agenesis of pineal gland
........Abnormality of forebrain morphology (HP:0100547) ................... HP:0002060 Abnormality of the cerebrum ................... HP:0007343 Abnormal morphology of the limbic system ................... HP:0010662 Abnormality of the diencephalon ................... HP:0025057 Abnormality of olfactory lobe morphology ................... HP:0040327 Abnormal morphology of the olfactory bulb
........Abnormality of the cerebral vasculature (HP:0100659) ................... HP:0001297 Stroke ................... HP:0002170 Intracranial hemorrhage ................... HP:0002408 Cerebral arteriovenous malformation ................... HP:0005318 Cerebral vasculitis ................... HP:0009145 Abnormal cerebral artery morphology ................... HP:0012480 Abnormality of cerebral veins ................... HP:0012520 Perivascular spaces
Sister Nodes:
..Abnormal cerebrospinal fluid morphology (HP:0002921)
..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 neuronal migration (HP:0002269)
..Abnormality of the spinal cord (HP:0002143)
..Alzheimer disease (HP:0002511)
..Aplasia/Hypoplasia involving the central nervous system (HP:0002977)
..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)
Genes (0) : Diseases (0) :
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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