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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] <15>(73|82) (83|38|18)
- 1:   Abnormality of urine homeostasis [HP:0003110] <57>(14|16) (18|3|0)
- 1:   Abnormal enzyme/coenzyme activity [HP:0012379] <43>(2|0) (2|0|0)
- 1:   Abnormal cellular physiology [HP:0011017] <16>(10|10) (15|3|0)
- 1:   Abnormal circulating metabolite concentration [HP:0032180] <12>(29|30) (33|14|5)
- 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>(40|45) (45|21|8)
- 1:   Amyloidosis [HP:0011034] <8>(1|1) (1|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|0) (0|0|0)
- 1:   Abnormal circulating nucleobase concentration [HP:0010932] <2>(1|0) (1|0|0)
- 1:   Abnormal erythrocyte sedimentation rate [HP:0025021] <2>(3|3) (3|1|0)
- 1:   Bloodstream infectious agent [HP:0031863] <2>(0|0) (0|0|0)


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Superfamily

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
Tricorn protease domain 20Direct
Saposin0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
BPTI-like0Direct
Ferritin-like0Direct
Plakin repeat0Direct
NAD kinase/diacylglycerol kinase-like0Direct
Cation efflux protein transmembrane domain-like0Direct
Apolipoprotein A-I0Direct
Folate-binding domain0Direct
Methylglyoxal synthase-like0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Aminomethyltransferase beta-barrel domain0Direct
PRTase-like0Direct
Smc hinge domain0Direct
2Fe-2S ferredoxin-like0Direct
4Fe-4S ferredoxins0Direct
Fibrinogen coiled-coil and central regions0Direct
Acyl-CoA dehydrogenase NM domain-like0Direct
CAD & PB1 domains0Direct
Acyl-CoA dehydrogenase C-terminal domain-like0Direct
Actin depolymerizing proteins0Direct
(Trans)glycosidases0.0005626Direct
UDP-Glycosyltransferase/glycogen phosphorylase0.002205Inherited
SH2 domain0.01162Inherited
TNF receptor-like0.01672Inherited
Single hybrid motif0.02088Inherited
DEATH domain0.03216Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.03483Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.03483Inherited
Cytochrome P4500.05184Inherited
Alkaline phosphatase-like0.05623Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.05782Inherited
alpha/beta-Hydrolases0.0598Inherited
FAD/NAD(P)-binding domain0.0603Inherited
Ribonuclease H-like0.06194Inherited
MHC antigen-recognition domain0.06485Inherited
CBS-domain pair0.09037Inherited
Ras GEF0.09396Inherited
Thiolase-like0.09396Inherited
PreATP-grasp domain0.09807Inherited
Glutathione synthetase ATP-binding domain-like0.1309Inherited
Mitochondrial carrier0.1326Inherited
Clc chloride channel0.1477Inherited
Adenine nucleotide alpha hydrolases-like0.1477Inherited
MFS general substrate transporter0.1482Inherited
PLP-dependent transferases0.1489Inherited
L-aspartase-like0.1529Inherited
Terpenoid synthases0.1529Inherited
GAF domain-like0.1529Inherited
Rudiment single hybrid motif0.1529Inherited
Insulin-like0.1529Inherited
ClpP/crotonase0.1563Inherited
E set domains0.1722Inherited
TNF-like0.1778Inherited
HD-domain/PDEase-like0.1848Inherited
4-helical cytokines0.2128Inherited
CoA-dependent acyltransferases0.2567Inherited
Tropomyosin0.2567Inherited
Nucleotide-diphospho-sugar transferases0.3042Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.3922Inherited
RING/U-box0.4444Inherited
Class II aaRS and biotin synthetases0.5033Inherited
Translation proteins0.5928Inherited
Fibrinogen C-terminal domain-like0.7028Inherited
Nucleotidylyl transferase0.7225Inherited
C-type lectin-like0.7322Inherited
SCOP hierarchy in SUPERFAMILY0.7517Inherited
Complement control module/SCR domain0.8565Inherited
L domain-like0.9375Inherited
Voltage-gated potassium channels0.9826Inherited
Nicotinic receptor ligand binding domain-like1Inherited
Neurotransmitter-gated ion-channel transmembrane pore1Inherited


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Family

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
Amylase, catalytic domain0Direct
Aminomethyltransferase folate-binding domain0Direct
Smc hinge domain0Direct
Small Kunitz-type inhibitors & BPTI-like toxins0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
IF2B-like0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Phosphoribosyltransferases (PRTases)0Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
FAD/NAD-linked reductases, N-terminal and central domains0Direct
Class I glutamine amidotransferases (GAT)0Direct
Fibrinogen coiled-coil and central regions0Direct
Cystathionine synthase-like0Direct
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0Direct
Long-chain cytokines0Direct
Nitrogenase iron protein-like0Direct
Diacylglycerol kinase-like0Direct
HCDH C-domain-like0Direct
Plakin repeat0Direct
Glycosyl transferases group 10Direct
Phoshoinositide 3-kinase (PI3K) helical domain0Direct
Gonadodropin/Follitropin0Direct
Aminomethyltransferase beta-barrel domain0Direct
Cation efflux protein transmembrane domain-like0Direct
beta-glycanases0Direct
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0Direct
Ferredoxin domains from multidomain proteins0Direct
Apolipoprotein A-I0Direct
Proteasome subunits0Direct
Integrin alpha N-terminal domain0Direct
SH2 domain0.009074Inherited
Biotinyl/lipoyl-carrier proteins and domains0.01555Inherited
LIM domain0.02059Inherited
TNF receptor-like0.03314Inherited
BC N-terminal domain-like0.04641Inherited
BC ATP-binding domain-like0.04641Inherited
Ras-binding domain, RBD0.04641Inherited
C1 set domains (antibody constant domain-like)0.05109Inherited
RecA protein-like (ATPase-domain)0.05316Inherited
MHC antigen-recognition domain0.05316Inherited
Cytochrome P4500.0606Inherited
STAT0.07862Inherited
Ras GEF0.07862Inherited
Pyrin domain, PYD0.07862Inherited
Inositol polyphosphate 5-phosphatase (IPP5)0.07862Inherited
STAT DNA-binding domain0.07862Inherited
Transcription factor STAT-4 N-domain0.07862Inherited
Arylsulfatase0.113Inherited
CBS-domain pair0.113Inherited
28-residue LRR0.113Inherited
Mitochondrial carrier0.1158Inherited
Clc chloride channel0.1274Inherited
BC C-terminal domain-like0.1311Inherited
GAF domain0.1311Inherited
Hypoxia-inducible factor Hif2a, C-terminal domain0.1311Inherited
Insulin-like0.1311Inherited
Pancreatic lipase, N-terminal domain0.1311Inherited
TNF-like0.1581Inherited
DEATH domain, DD0.1581Inherited
Higher-molecular-weight phosphotyrosine protein phosphatases0.1628Inherited
FAD-linked reductases, N-terminal domain0.1919Inherited
Crotonase-like0.1919Inherited
Noncollagenous (NC1) domain of collagen IV0.1919Inherited
Calponin-homology domain, CH-domain0.2031Inherited
PDEase0.2316Inherited
Tropomyosin0.2316Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.2316Inherited
Caspase recruitment domain, CARD0.2851Inherited
Cytoplasmic domain of inward rectifier potassium channel0.3483Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.3973Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.4655Inherited
Extended AAA-ATPase domain0.563Inherited
Fibrinogen C-terminal domain-like0.6843Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.7287Inherited
Canonical RBD0.794Inherited
Ngr ectodomain-like0.8354Inherited
Complement control module/SCR domain0.8485Inherited
G proteins0.8682Inherited
Neurotransmitter-gated ion-channel transmembrane pore1Inherited
Voltage-gated potassium channels1Inherited
Nicotinic receptor ligand binding domain-like1Inherited


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)

(show details)
Supra-domain (Single) FDR (all) Annotation (direct or inherited)
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Aminomethyltransferase beta-barrel domain0Direct
Methylglyoxal synthase-like0Direct
Apolipoprotein A-I0Direct
Smc hinge domain0Direct
2Fe-2S ferredoxin-like0Direct
PRTase-like0Direct
Cation efflux protein transmembrane domain-like0Direct
Acyl-CoA dehydrogenase C-terminal domain-like0Direct
NAD kinase/diacylglycerol kinase-like0Direct
Saposin0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Folate-binding domain0Direct
Fibrinogen coiled-coil and central regions0Direct
CAD & PB1 domains0Direct
Actin depolymerizing proteins0Direct
BPTI-like0Direct
Ferritin-like0Direct
Acyl-CoA dehydrogenase NM domain-like0Direct
Plakin repeat0Direct
4Fe-4S ferredoxins0Direct
Tricorn protease domain 20Direct
(Trans)glycosidases0.000295Direct
UDP-Glycosyltransferase/glycogen phosphorylase0.001282Inherited
SH2 domain0.007692Inherited
TNF receptor-like0.01134Inherited
Single hybrid motif0.01444Inherited
DEATH domain0.0231Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.02519Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.02519Inherited
Cytochrome P4500.03871Inherited
Alkaline phosphatase-like0.04239Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.04369Inherited
alpha/beta-Hydrolases0.04524Inherited
FAD/NAD(P)-binding domain0.04565Inherited
Ribonuclease H-like0.04704Inherited
Integrin domains0.0494Inherited
MHC antigen-recognition domain0.0494Inherited
CBS-domain pair0.07093Inherited
STAT0.07413Inherited
Ras GEF0.07413Inherited
Transcription factor STAT-4 N-domain0.07413Inherited
Thiolase-like0.07413Inherited
PreATP-grasp domain0.07752Inherited
Glutathione synthetase ATP-binding domain-like0.1061Inherited
Mitochondrial carrier0.1075Inherited
Clc chloride channel0.121Inherited
Adenine nucleotide alpha hydrolases-like0.121Inherited
MFS general substrate transporter0.1215Inherited
PLP-dependent transferases0.1222Inherited
L-aspartase-like0.1256Inherited
Rudiment single hybrid motif0.1256Inherited
GAF domain-like0.1256Inherited
Restriction endonuclease-like0.1256Inherited
Insulin-like0.1256Inherited
Terpenoid synthases0.1256Inherited
ClpP/crotonase0.1285Inherited
E set domains0.1428Inherited
TNF-like0.1477Inherited
HD-domain/PDEase-like0.1541Inherited
4-helical cytokines0.1801Inherited
Calponin-homology domain, CH-domain0.189Inherited
Tropomyosin0.2206Inherited
CoA-dependent acyltransferases0.2206Inherited
Nucleotide-diphospho-sugar transferases0.2663Inherited
BRCT domain0.3345Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.3508Inherited
S-adenosyl-L-methionine-dependent methyltransferases0.3772Inherited
RING/U-box0.4021Inherited
FAD-linked reductases, C-terminal domain0.4404Inherited
Class II aaRS and biotin synthetases0.4602Inherited
Thioredoxin-like0.537Inherited
Translation proteins0.5511Inherited
Fibrinogen C-terminal domain-like0.6645Inherited
Nucleotidylyl transferase0.6847Inherited
C-type lectin-like0.695Inherited
RNA-binding domain, RBD0.8029Inherited
Complement control module/SCR domain0.8252Inherited
L domain-like0.9108Inherited
Voltage-gated potassium channels0.9608Inherited
Nicotinic receptor ligand binding domain-like0.9857Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.9857Inherited
Homeodomain-like1Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    52096,52096
  • 52096 - ClpP/crotonase
  • 52096 - ClpP/crotonase
  • 0Direct
    52540,90123
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0Direct
    103025,101790
  • 103025 - Folate-binding domain
  • 101790 - Aminomethyltransferase beta-barrel domain
  • 0Direct
    56645,47203
  • 56645 - Acyl-CoA dehydrogenase NM domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0Direct
    55550,55550
  • 55550 - SH2 domain
  • 55550 - SH2 domain
  • 0Direct
    49562,48371
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48371 - ARM repeat
  • 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
    53474,49723
  • 53474 - alpha/beta-Hydrolases
  • 49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)
  • 0Direct
    69318,69179
  • 69318 - Integrin alpha N-terminal domain
  • 69179 - Integrin domains
  • 0Direct
    54897,52743
  • 54897 - Protease propeptides/inhibitors
  • 52743 - Subtilisin-like
  • 0Direct
    51905,55424
  • 51905 - FAD/NAD(P)-binding domain
  • 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain
  • 0Direct
    69179,69179
  • 69179 - Integrin domains
  • 69179 - Integrin domains
  • 0Direct
    50729,55550
  • 50729 - PH domain-like
  • 55550 - SH2 domain
  • 0Direct
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.02519Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.03072Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.0494Inherited
    55550,56112
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 0.0494Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.07413Inherited
    47655,49417
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 0.07413Inherited
    48092,47655
  • 48092 - Transcription factor STAT-4 N-domain
  • 47655 - STAT
  • 0.07413Inherited
    49417,55550
  • 49417 - p53-like transcription factors
  • 55550 - SH2 domain
  • 0.07413Inherited
    53901,53901
  • 53901 - Thiolase-like
  • 53901 - Thiolase-like
  • 0.07413Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.07752Inherited
    52440,56059
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 0.121Inherited
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.1256Inherited
    55781,109604
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1256Inherited
    55781,55781
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 0.1256Inherited
    47459,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.1256Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.1477Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.2748Inherited
    51905,54373
  • 51905 - FAD/NAD(P)-binding domain
  • 54373 - FAD-linked reductases, C-terminal domain
  • 0.3115Inherited
    81324,81296
  • 81324 - Voltage-gated potassium channels
  • 81296 - E set domains
  • 0.3345Inherited
    56436,56436
  • 56436 - C-type lectin-like
  • 56436 - C-type lectin-like
  • 0.4404Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.7855Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.9857Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    50729,55550,56112
  • 50729 - PH domain-like
  • 55550 - SH2 domain
  • 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
    55550,56112,56112
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    90123,52540,90123
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0Direct
    52540,90123,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0Direct
    69179,69179,69179
  • 69179 - Integrin domains
  • 69179 - Integrin domains
  • 69179 - Integrin domains
  • 0Direct
    69318,69179,69179
  • 69318 - Integrin alpha N-terminal domain
  • 69179 - Integrin domains
  • 69179 - Integrin domains
  • 0Direct
    49562,48371,56112
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48371 - ARM repeat
  • 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
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.01444Inherited
    47655,49417,55550
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 55550 - SH2 domain
  • 0.07413Inherited
    48092,47655,49417
  • 48092 - Transcription factor STAT-4 N-domain
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 0.07413Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.09015Inherited
    57196,57184,57196
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.121Inherited
    55781,55781,109604
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1256Inherited
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.1256Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2206Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.2206Inherited


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