Human Phenotype Ontology 
Grandparent Node:
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All (HP:0000001)help
Parent Node:
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Mode of inheritance (HP:0000005)help
..Starting node
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Mitochondrial inheritance (HP:0001427)help
Term ID: 1427
Name: Mitochondrial inheritance
Synonym: Mitochondrial; mitochondrial
Definition: A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
Comments:
Reference: HP:0001427
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAutosomal dominant inheritance (HP:0000006) help
..expandAutosomal recessive inheritance (HP:0000007) help
..expandContiguous gene syndrome (HP:0001466) help
..expandGenetic anticipation (HP:0003743) help
..expandMultifactorial inheritance (HP:0001426) help
..expandobsolete Familial predisposition (HP:0001472) help
..expandobsolete Gonosomal inheritance (HP:0010985) help
..expandobsolete Heterogeneous (HP:0001425) help
..expandSomatic mutation (HP:0001428) help
..expandSporadic (HP:0003745) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001427HP:0001427Mitochondrial inheritance0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy.
HP:0001427HP:0001427Mitochondrial inheritance0ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa.
HP:0001427HP:0001427Mitochondrial inheritance0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001427HP:0001427Mitochondrial inheritance0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0001427HP:0001427Mitochondrial inheritance0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0COX3 CL E G H45147422OMIM:535000Leber optic atrophy.
HP:0001427HP:0001427Mitochondrial inheritance0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0CYTB CL E G H45197427OMIM:535000Leber optic atrophy.
HP:0001427HP:0001427Mitochondrial inheritance0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0001427HP:0001427Mitochondrial inheritance0ND1 CL E G H45357455OMIM:535000Leber optic atrophy.
HP:0001427HP:0001427Mitochondrial inheritance0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0ND2 CL E G H45367456OMIM:535000Leber optic atrophy.
HP:0001427HP:0001427Mitochondrial inheritance0ND4 CL E G H45387459OMIM:535000Leber optic atrophy.
HP:0001427HP:0001427Mitochondrial inheritance0ND4L CL E G H45397460OMIM:535000Leber optic atrophy.
HP:0001427HP:0001427Mitochondrial inheritance0ND5 CL E G H45407461OMIM:535000Leber optic atrophy.
HP:0001427HP:0001427Mitochondrial inheritance0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0ND6 CL E G H45417462OMIM:535000Leber optic atrophy.
HP:0001427HP:0001427Mitochondrial inheritance0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0001427HP:0001427Mitochondrial inheritance0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0001427HP:0001427Mitochondrial inheritance0TRMU CL E G H5568725481OMIM:580000Deafness, aminoglycoside-induced.101
HP:0001427HP:0001427Mitochondrial inheritance0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0TRNF CL E G H45587481OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0001427HP:0001427Mitochondrial inheritance0TRNI CL E G H45657488OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0001427HP:0001427Mitochondrial inheritance0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0TRNK CL E G H45667489OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0001427HP:0001427Mitochondrial inheritance0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0TRNL1 CL E G H45677490OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0001427HP:0001427Mitochondrial inheritance0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0001427HP:0001427Mitochondrial inheritance0TRNP CL E G H45717494OMIM:545000Myoclonic epilepsy associated with ragged-red fibers.
HP:0001427HP:0001427Mitochondrial inheritance0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0TRNS1 CL E G H45747497OMIM:580000Deafness, aminoglycoside-induced.
HP:0001427HP:0001427Mitochondrial inheritance0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0001427HP:0001427Mitochondrial inheritance0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0TRNT CL E G H45767499OMIM:551000Myopathy, mitochondrial, lethal infantile.
HP:0001427HP:0001427Mitochondrial inheritance0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001427HP:0001427Mitochondrial inheritance0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.


Genes (30) :ATP6 BCS1L CHKB COX1 COX2 COX3 CYTB FDX2 ND1 ND2 ND4 ND4L ND5 ND6 NDUFS4 SURF1 TRMU TRNC TRNF TRNI TRNK TRNL1 TRNN TRNP TRNQ TRNS1 TRNS2 TRNT TRNV TRNW

Diseases (11) :OMIM:535000 OMIM:551500 OMIM:124000 OMIM:602541 OMIM:540000 OMIM:251900 OMIM:252010 OMIM:220110 OMIM:580000 OMIM:545000 OMIM:551000
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.