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Phenotypic Abnormality (PA): Abnormality of metabolism/homeostasis

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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)

Shortest distance to current term (+ for parents, - for children) HP term [HP ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)
+ 1:   Phenotypic abnormality [HP:0000118] <25>
0:   Abnormality of metabolism/homeostasis [HP:0001939] <16>(76|83) (79|38|16)
- 1:   Abnormality of urine homeostasis [HP:0003110] <58>(17|20) (20|7|3)
- 1:   Abnormal enzyme/coenzyme activity [HP:0012379] <44>(3|1) (3|1|0)
- 1:   Abnormal cellular physiology [HP:0011017] <16>(11|11) (14|3|0)
- 1:   Abnormal circulating metabolite concentration [HP:0032180] <12>(29|32) (30|14|4)
- 1:   Abnormal cerebrospinal fluid metabolite concentration [HP:0032207] <9>(0|0) (0|0|0)
- 1:   Abnormal tissue metabolite concentration [HP:0032243] <9>(1|1) (1|0|0)
- 1:   Abnormal homeostasis [HP:0012337] <8>(42|43) (42|21|8)
- 1:   Amyloidosis [HP:0011034] <8>(1|1) (1|0|0)
- 1:   Abnormal drug response [HP:0020169] <5>(0|0) (0|0|0)
- 1:   Abnormal metabolism [HP:0032245] <5>(1|0) (1|0|0)
- 1:   Presence of xenobiotic [HP:0031838] <5>(0|0) (0|0|0)
- 1:   Abnormal fecal test result [HP:0032483] <3>(0|0) (0|0|0)
- 1:   Ketosis [HP:0001946] <3>(0|2) (0|0|0)
- 1:   Abnormal circulating nucleobase concentration [HP:0010932] <2>(1|0) (1|0|0)
- 1:   Abnormal erythrocyte sedimentation rate [HP:0025021] <2>(4|4) (4|2|0)
- 1:   Bloodstream infectious agent [HP:0031863] <2>(0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Acyl-CoA dehydrogenase NM domain-like0Direct
2Fe-2S ferredoxin-like0Direct
Ferritin-like0Direct
Acyl-CoA dehydrogenase C-terminal domain-like0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Tricorn protease domain 20Direct
NAD kinase/diacylglycerol kinase-like0Direct
CAD & PB1 domains0Direct
Methylglyoxal synthase-like0Direct
Smc hinge domain0Direct
Saposin0Direct
BPTI-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
Folate-binding domain0Direct
Cation efflux protein transmembrane domain-like0Direct
Plakin repeat0Direct
Fibrinogen coiled-coil and central regions0Direct
Apolipoprotein A-I0Direct
4Fe-4S ferredoxins0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
PRTase-like0Direct
Actin depolymerizing proteins0Direct
(Trans)glycosidases0.002002Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.002361Inherited
DEATH domain0.003983Inherited
SH2 domain0.008669Inherited
Single hybrid motif0.01273Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.03608Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.03608Inherited
TNF receptor-like0.04316Inherited
FAD/NAD(P)-binding domain0.04536Inherited
alpha/beta-Hydrolases0.0531Inherited
Alkaline phosphatase-like0.05805Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.05902Inherited
Transcription factor STAT-4 N-domain0.05902Inherited
STAT0.05902Inherited
Cytochrome P4500.06226Inherited
CBS-domain pair0.09289Inherited
MHC antigen-recognition domain0.09289Inherited
Thiolase-like0.09608Inherited
Ras GEF0.09608Inherited
RNI-like0.0994Inherited
Ribonuclease H-like0.1158Inherited
TNF-like0.1358Inherited
Clc chloride channel0.15Inherited
Adenine nucleotide alpha hydrolases-like0.15Inherited
Mitochondrial carrier0.1525Inherited
Rudiment single hybrid motif0.155Inherited
GAF domain-like0.155Inherited
Insulin-like0.155Inherited
L-aspartase-like0.155Inherited
Terpenoid synthases0.155Inherited
ClpP/crotonase0.1595Inherited
CoA-dependent acyltransferases0.1879Inherited
PreATP-grasp domain0.1879Inherited
HD-domain/PDEase-like0.1879Inherited
MFS general substrate transporter0.1945Inherited
PLP-dependent transferases0.2146Inherited
Glutathione synthetase ATP-binding domain-like0.2166Inherited
E set domains0.2228Inherited
Tropomyosin0.2604Inherited
4-helical cytokines0.3096Inherited
Nucleotide-diphospho-sugar transferases0.3777Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.3968Inherited
Complement control module/SCR domain0.4366Inherited
RING/U-box0.5014Inherited
Class II aaRS and biotin synthetases0.5865Inherited
Translation proteins0.5984Inherited
C-type lectin-like0.6618Inherited
SCOP hierarchy in SUPERFAMILY0.6977Inherited
Fibrinogen C-terminal domain-like0.7078Inherited
Nucleotidylyl transferase0.7284Inherited
Voltage-gated potassium channels0.949Inherited
L domain-like0.9928Inherited
Nicotinic receptor ligand binding domain-like1Inherited
Neurotransmitter-gated ion-channel transmembrane pore1Inherited


Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Family

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
Aminomethyltransferase folate-binding domain0Direct
Gonadodropin/Follitropin0Direct
Amylase, catalytic domain0Direct
Glycosyl transferases group 10Direct
Cystathionine synthase-like0Direct
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0Direct
Diacylglycerol kinase-like0Direct
CAT-like0Direct
Apolipoprotein A-I0Direct
Integrin alpha N-terminal domain0Direct
Proteasome subunits0Direct
Fibrinogen coiled-coil and central regions0Direct
Phosphoribosyltransferases (PRTases)0Direct
Aminomethyltransferase beta-barrel domain0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
FAD/NAD-linked reductases, N-terminal and central domains0Direct
IF2B-like0Direct
Small Kunitz-type inhibitors & BPTI-like toxins0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Smc hinge domain0Direct
Cation efflux protein transmembrane domain-like0Direct
Plakin repeat0Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module0Direct
Class I glutamine amidotransferases (GAT)0Direct
Phoshoinositide 3-kinase (PI3K) helical domain0Direct
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
HCDH C-domain-like0Direct
Ferredoxin domains from multidomain proteins0Direct
Long-chain cytokines0Direct
beta-glycanases0Direct
Nitrogenase iron protein-like0Direct
SH2 domain0.006762Inherited
Biotinyl/lipoyl-carrier proteins and domains0.009334Inherited
Transcription factor STAT-4 N-domain0.04788Inherited
STAT0.04788Inherited
BC N-terminal domain-like0.04788Inherited
BC ATP-binding domain-like0.04788Inherited
Ras-binding domain, RBD0.04788Inherited
STAT DNA-binding domain0.04788Inherited
LIM domain0.05306Inherited
C1 set domains (antibody constant domain-like)0.07064Inherited
DEATH domain, DD0.07064Inherited
Cytochrome P4500.07242Inherited
TNF receptor-like0.07917Inherited
MHC antigen-recognition domain0.07917Inherited
Inositol polyphosphate 5-phosphatase (IPP5)0.08036Inherited
Pyrin domain, PYD0.08036Inherited
Ras GEF0.08036Inherited
28-residue LRR0.1153Inherited
RecA protein-like (ATPase-domain)0.1153Inherited
Arylsulfatase0.1153Inherited
CBS-domain pair0.1153Inherited
TNF-like0.1189Inherited
Clc chloride channel0.13Inherited
BC C-terminal domain-like0.1333Inherited
Insulin-like0.1333Inherited
GAF domain0.1333Inherited
Hypoxia-inducible factor Hif2a, C-terminal domain0.1333Inherited
Pancreatic lipase, N-terminal domain0.1333Inherited
Mitochondrial carrier0.1358Inherited
Noncollagenous (NC1) domain of collagen IV0.1954Inherited
Crotonase-like0.1954Inherited
FAD-linked reductases, N-terminal domain0.1954Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.2353Inherited
Tropomyosin0.2353Inherited
PDEase0.2353Inherited
Calponin-homology domain, CH-domain0.2744Inherited
Caspase recruitment domain, CARD0.2884Inherited
Phosphotyrosine-binding domain (PTB)0.353Inherited
Cytoplasmic domain of inward rectifier potassium channel0.353Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.4041Inherited
Complement control module/SCR domain0.4158Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.4705Inherited
Extended AAA-ATPase domain0.5701Inherited
Fibrinogen C-terminal domain-like0.6892Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.7993Inherited
G proteins0.8699Inherited
Canonical RBD0.8725Inherited
Ngr ectodomain-like0.9183Inherited
Voltage-gated potassium channels0.9932Inherited
Nicotinic receptor ligand binding domain-like1Inherited
Neurotransmitter-gated ion-channel transmembrane pore1Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Plakin repeat0Direct
Actin depolymerizing proteins0Direct
Saposin0Direct
Tricorn protease domain 20Direct
NAD kinase/diacylglycerol kinase-like0Direct
Smc hinge domain0Direct
PRTase-like0Direct
Fibrinogen coiled-coil and central regions0Direct
Aminomethyltransferase beta-barrel domain0Direct
Acyl-CoA dehydrogenase C-terminal domain-like0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
2Fe-2S ferredoxin-like0Direct
CAD & PB1 domains0Direct
Methylglyoxal synthase-like0Direct
Cation efflux protein transmembrane domain-like0Direct
4Fe-4S ferredoxins0Direct
Apolipoprotein A-I0Direct
Acyl-CoA dehydrogenase NM domain-like0Direct
Ferritin-like0Direct
Folate-binding domain0Direct
BPTI-like0Direct
(Trans)glycosidases0.001142Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.001366Inherited
DEATH domain0.002413Inherited
SH2 domain0.005597Inherited
Single hybrid motif0.00846Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.02601Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.02601Inherited
TNF receptor-like0.03162Inherited
FAD/NAD(P)-binding domain0.03335Inherited
alpha/beta-Hydrolases0.03975Inherited
Alkaline phosphatase-like0.04379Inherited
STAT0.04462Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.04462Inherited
Transcription factor STAT-4 N-domain0.04462Inherited
Cytochrome P4500.04727Inherited
CBS-domain pair0.07284Inherited
MHC antigen-recognition domain0.07284Inherited
Thiolase-like0.07563Inherited
Ras GEF0.07563Inherited
RNI-like0.0786Inherited
Ribonuclease H-like0.09249Inherited
TNF-like0.1104Inherited
Adenine nucleotide alpha hydrolases-like0.1231Inherited
Clc chloride channel0.1231Inherited
Mitochondrial carrier0.1253Inherited
L-aspartase-like0.1275Inherited
Rudiment single hybrid motif0.1275Inherited
GAF domain-like0.1275Inherited
Insulin-like0.1275Inherited
Restriction endonuclease-like0.1275Inherited
Terpenoid synthases0.1275Inherited
ClpP/crotonase0.1315Inherited
CoA-dependent acyltransferases0.1569Inherited
HD-domain/PDEase-like0.1569Inherited
PreATP-grasp domain0.1569Inherited
MFS general substrate transporter0.1631Inherited
PLP-dependent transferases0.1814Inherited
Glutathione synthetase ATP-binding domain-like0.1833Inherited
E set domains0.1887Inherited
Tropomyosin0.224Inherited
4-helical cytokines0.271Inherited
S-adenosyl-L-methionine-dependent methyltransferases0.3096Inherited
Nucleotide-diphospho-sugar transferases0.3361Inherited
BRCT domain0.3382Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.3548Inherited
Complement control module/SCR domain0.3936Inherited
RING/U-box0.4581Inherited
Class II aaRS and biotin synthetases0.5444Inherited
Translation proteins0.5571Inherited
C-type lectin-like0.6229Inherited
Fibrinogen C-terminal domain-like0.67Inherited
Nucleotidylyl transferase0.6912Inherited
Voltage-gated potassium channels0.9232Inherited
L domain-like0.9719Inherited
Nicotinic receptor ligand binding domain-like0.9919Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.9919Inherited
Homeodomain-like1Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
69179,69179
  • 69179 - Integrin domains
  • 69179 - Integrin domains
  • 0Direct
    47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    56645,47203
  • 56645 - Acyl-CoA dehydrogenase NM domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0Direct
    53474,49723
  • 53474 - alpha/beta-Hydrolases
  • 49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)
  • 0Direct
    103025,101790
  • 103025 - Folate-binding domain
  • 101790 - Aminomethyltransferase beta-barrel domain
  • 0Direct
    52096,52096
  • 52096 - ClpP/crotonase
  • 52096 - ClpP/crotonase
  • 0Direct
    54897,52743
  • 54897 - Protease propeptides/inhibitors
  • 52743 - Subtilisin-like
  • 0Direct
    50729,55550
  • 50729 - PH domain-like
  • 55550 - SH2 domain
  • 0Direct
    51905,55424
  • 51905 - FAD/NAD(P)-binding domain
  • 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain
  • 0Direct
    49562,48371
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48371 - ARM repeat
  • 0Direct
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    69318,69179
  • 69318 - Integrin alpha N-terminal domain
  • 69179 - Integrin domains
  • 0Direct
    55550,55550
  • 55550 - SH2 domain
  • 55550 - SH2 domain
  • 0Direct
    81296,48239
  • 81296 - E set domains
  • 48239 - Terpenoid cyclases/Protein prenyltransferases
  • 0Direct
    47203,47203
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0Direct
    75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.02601Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.03169Inherited
    49417,55550
  • 49417 - p53-like transcription factors
  • 55550 - SH2 domain
  • 0.04462Inherited
    48092,47655
  • 48092 - Transcription factor STAT-4 N-domain
  • 47655 - STAT
  • 0.04462Inherited
    47655,49417
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 0.04462Inherited
    55550,56112
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 0.0507Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.06431Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.07284Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.07563Inherited
    53901,53901
  • 53901 - Thiolase-like
  • 53901 - Thiolase-like
  • 0.07563Inherited
    55781,109604
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1275Inherited
    47459,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.1275Inherited
    55781,55781
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 0.1275Inherited
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.1275Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.1569Inherited
    51905,54373
  • 51905 - FAD/NAD(P)-binding domain
  • 54373 - FAD-linked reductases, C-terminal domain
  • 0.224Inherited
    52440,56059
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 0.224Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.2776Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.3096Inherited
    81324,81296
  • 81324 - Voltage-gated potassium channels
  • 81296 - E set domains
  • 0.3382Inherited
    56436,56436
  • 56436 - C-type lectin-like
  • 56436 - C-type lectin-like
  • 0.4456Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.9919Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    49562,48371,56112
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48371 - ARM repeat
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    51230,47005,52777
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    50729,55550,56112
  • 50729 - PH domain-like
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    55550,56112,56112
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    56645,47203,47203
  • 56645 - Acyl-CoA dehydrogenase NM domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0Direct
    69318,69179,69179
  • 69318 - Integrin alpha N-terminal domain
  • 69179 - Integrin domains
  • 69179 - Integrin domains
  • 0Direct
    69179,69179,69179
  • 69179 - Integrin domains
  • 69179 - Integrin domains
  • 69179 - Integrin domains
  • 0Direct
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.01498Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.03169Inherited
    48092,47655,49417
  • 48092 - Transcription factor STAT-4 N-domain
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 0.04462Inherited
    47655,49417,55550
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 55550 - SH2 domain
  • 0.04462Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.07944Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.09249Inherited
    57196,57184,57196
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.1231Inherited
    55781,55781,109604
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1275Inherited
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.1275Inherited


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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