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Phenotypic Abnormality (PA): Abnormality of metabolism/homeostasis

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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>(75|82) (79|40|16)
- 1:   Abnormality of urine homeostasis [HP:0003110] <58>(17|20) (21|7|3)
- 1:   Abnormal enzyme/coenzyme activity [HP:0012379] <44>(2|1) (3|1|0)
- 1:   Abnormal cellular physiology [HP:0011017] <16>(10|10) (13|3|0)
- 1:   Abnormal circulating metabolite concentration [HP:0032180] <12>(30|31) (31|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>(44|47) (44|22|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)
Tricorn protease domain 20Direct
Acyl-CoA dehydrogenase C-terminal domain-like0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Folate-binding domain0Direct
Methylglyoxal synthase-like0Direct
2Fe-2S ferredoxin-like0Direct
Ferritin-like0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
CAD & PB1 domains0Direct
Plakin repeat0Direct
Aminomethyltransferase beta-barrel domain0Direct
Smc hinge domain0Direct
4Fe-4S ferredoxins0Direct
Acyl-CoA dehydrogenase NM domain-like0Direct
Fibrinogen coiled-coil and central regions0Direct
PRTase-like0Direct
Saposin0Direct
Apolipoprotein A-I0Direct
NAD kinase/diacylglycerol kinase-like0Direct
Cation efflux protein transmembrane domain-like0Direct
Actin depolymerizing proteins0Direct
BPTI-like0Direct
(Trans)glycosidases0.002114Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.002472Inherited
DEATH domain0.004256Inherited
Single hybrid motif0.01316Inherited
SH2 domain0.01615Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.03686Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.03686Inherited
TNF receptor-like0.04442Inherited
Mitochondrial carrier0.05317Inherited
alpha/beta-Hydrolases0.0551Inherited
Alkaline phosphatase-like0.05965Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.06015Inherited
Transcription factor STAT-4 N-domain0.06015Inherited
STAT0.06015Inherited
Cytochrome P4500.06419Inherited
MHC antigen-recognition domain0.09479Inherited
CBS-domain pair0.09479Inherited
Ras GEF0.09744Inherited
Thiolase-like0.09744Inherited
Ribonuclease H-like0.1183Inherited
TNF-like0.1386Inherited
Adenine nucleotide alpha hydrolases-like0.1524Inherited
Clc chloride channel0.1524Inherited
RNI-like0.1562Inherited
GAF domain-like0.1572Inherited
Terpenoid synthases0.1572Inherited
Rudiment single hybrid motif0.1572Inherited
L-aspartase-like0.1572Inherited
Insulin-like0.1572Inherited
E set domains0.1588Inherited
ClpP/crotonase0.1627Inherited
HD-domain/PDEase-like0.1906Inherited
PreATP-grasp domain0.1906Inherited
MFS general substrate transporter0.2067Inherited
PLP-dependent transferases0.219Inherited
Tropomyosin0.2644Inherited
4-helical cytokines0.3152Inherited
Glutathione synthetase ATP-binding domain-like0.3152Inherited
Trypsin-like serine proteases0.3545Inherited
Nucleotide-diphospho-sugar transferases0.3847Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.402Inherited
Complement control module/SCR domain0.4427Inherited
Fibrinogen C-terminal domain-like0.5018Inherited
Translation proteins0.5113Inherited
Class II aaRS and biotin synthetases0.5182Inherited
C-type lectin-like0.6686Inherited
RING/U-box0.6903Inherited
SCOP hierarchy in SUPERFAMILY0.7589Inherited
Nucleotidylyl transferase0.793Inherited
Voltage-gated potassium channels0.9481Inherited
L domain-like0.9945Inherited
Neurotransmitter-gated ion-channel transmembrane pore1Inherited
Nicotinic receptor ligand binding domain-like1Inherited


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Family

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
Cation efflux protein transmembrane domain-like0Direct
Proteasome subunits0Direct
Amylase, catalytic domain0Direct
Ferredoxin domains from multidomain proteins0Direct
Gonadodropin/Follitropin0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Apolipoprotein A-I0Direct
Glycosyl transferases group 10Direct
beta-glycanases0Direct
Class I glutamine amidotransferases (GAT)0Direct
Nitrogenase iron protein-like0Direct
Diacylglycerol kinase-like0Direct
FAD/NAD-linked reductases, N-terminal and central domains0Direct
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0Direct
Cystathionine synthase-like0Direct
Smc hinge domain0Direct
CAT-like0Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module0Direct
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
Phoshoinositide 3-kinase (PI3K) helical domain0Direct
Aminomethyltransferase beta-barrel domain0Direct
Long-chain cytokines0Direct
Plakin repeat0Direct
Small Kunitz-type inhibitors & BPTI-like toxins0Direct
HCDH C-domain-like0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Integrin alpha N-terminal domain0Direct
Phosphoribosyltransferases (PRTases)0Direct
Fibrinogen coiled-coil and central regions0Direct
Aminomethyltransferase folate-binding domain0Direct
IF2B-like0Direct
Biotinyl/lipoyl-carrier proteins and domains0.009911Inherited
SH2 domain0.01377Inherited
Mitochondrial carrier0.04612Inherited
BC N-terminal domain-like0.0498Inherited
Transcription factor STAT-4 N-domain0.0498Inherited
Ras-binding domain, RBD0.0498Inherited
STAT DNA-binding domain0.0498Inherited
STAT0.0498Inherited
BC ATP-binding domain-like0.0498Inherited
LIM domain0.05589Inherited
DEATH domain, DD0.07436Inherited
C1 set domains (antibody constant domain-like)0.07436Inherited
Cytochrome P4500.07738Inherited
TNF receptor-like0.08287Inherited
MHC antigen-recognition domain0.08287Inherited
Ras GEF0.08298Inherited
Inositol polyphosphate 5-phosphatase (IPP5)0.08298Inherited
Pyrin domain, PYD0.08298Inherited
Arylsulfatase0.1203Inherited
28-residue LRR0.1203Inherited
CBS-domain pair0.1203Inherited
RecA protein-like (ATPase-domain)0.1203Inherited
TNF-like0.1249Inherited
Clc chloride channel0.1341Inherited
Pancreatic lipase, N-terminal domain0.1364Inherited
Insulin-like0.1364Inherited
GAF domain0.1364Inherited
BC C-terminal domain-like0.1364Inherited
Hypoxia-inducible factor Hif2a, C-terminal domain0.1364Inherited
Cytoplasmic domain of inward rectifier potassium channel0.1719Inherited
FAD-linked reductases, N-terminal domain0.2002Inherited
Crotonase-like0.2002Inherited
Noncollagenous (NC1) domain of collagen IV0.2002Inherited
Tropomyosin0.2424Inherited
PDEase0.2424Inherited
Caspase recruitment domain, CARD0.2953Inherited
Phosphotyrosine-binding domain (PTB)0.3624Inherited
Complement control module/SCR domain0.4296Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.4811Inherited
Fibrinogen C-terminal domain-like0.4811Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.5012Inherited
Eukaryotic proteases0.5126Inherited
Extended AAA-ATPase domain0.5836Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.7368Inherited
G proteins0.8151Inherited
Canonical RBD0.9123Inherited
Ngr ectodomain-like0.9248Inherited
Voltage-gated potassium channels0.9841Inherited
Neurotransmitter-gated ion-channel transmembrane pore1Inherited
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)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Smc hinge domain0Direct
Fibrinogen coiled-coil and central regions0Direct
Saposin0Direct
Ferritin-like0Direct
Plakin repeat0Direct
Tricorn protease domain 20Direct
NAD kinase/diacylglycerol kinase-like0Direct
Apolipoprotein A-I0Direct
Folate-binding domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
PRTase-like0Direct
Actin depolymerizing proteins0Direct
4Fe-4S ferredoxins0Direct
CAD & PB1 domains0Direct
2Fe-2S ferredoxin-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
Methylglyoxal synthase-like0Direct
Acyl-CoA dehydrogenase NM domain-like0Direct
Acyl-CoA dehydrogenase C-terminal domain-like0Direct
BPTI-like0Direct
Cation efflux protein transmembrane domain-like0Direct
(Trans)glycosidases0.001191Inherited
UDP-Glycosyltransferase/glycogen phosphorylase0.001412Inherited
DEATH domain0.002551Inherited
Single hybrid motif0.008654Inherited
SH2 domain0.01079Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.02639Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.02639Inherited
TNF receptor-like0.03226Inherited
Mitochondrial carrier0.03943Inherited
alpha/beta-Hydrolases0.04097Inherited
Alkaline phosphatase-like0.04472Inherited
Transcription factor STAT-4 N-domain0.04513Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.04513Inherited
STAT0.04513Inherited
Cytochrome P4500.04855Inherited
Integrin domains0.05136Inherited
CBS-domain pair0.07407Inherited
MHC antigen-recognition domain0.07407Inherited
Ras GEF0.07631Inherited
Thiolase-like0.07631Inherited
Ribonuclease H-like0.09414Inherited
TNF-like0.1123Inherited
Adenine nucleotide alpha hydrolases-like0.1246Inherited
Clc chloride channel0.1246Inherited
RNI-like0.1279Inherited
Insulin-like0.1287Inherited
Terpenoid synthases0.1287Inherited
GAF domain-like0.1287Inherited
L-aspartase-like0.1287Inherited
Rudiment single hybrid motif0.1287Inherited
E set domains0.13Inherited
ClpP/crotonase0.1334Inherited
PreATP-grasp domain0.1587Inherited
CoA-dependent acyltransferases0.1587Inherited
HD-domain/PDEase-like0.1587Inherited
MFS general substrate transporter0.1734Inherited
PLP-dependent transferases0.1846Inherited
Tropomyosin0.2266Inherited
4-helical cytokines0.2746Inherited
Glutathione synthetase ATP-binding domain-like0.2746Inherited
Trypsin-like serine proteases0.3125Inherited
BRCT domain0.3415Inherited
Nucleotide-diphospho-sugar transferases0.3415Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.3586Inherited
S-adenosyl-L-methionine-dependent methyltransferases0.3937Inherited
Complement control module/SCR domain0.3988Inherited
Fibrinogen C-terminal domain-like0.4575Inherited
Translation proteins0.4668Inherited
Class II aaRS and biotin synthetases0.4738Inherited
C-type lectin-like0.6285Inherited
RING/U-box0.6513Inherited
Nucleotidylyl transferase0.7575Inherited
Voltage-gated potassium channels0.9224Inherited
L domain-like0.9736Inherited
Nicotinic receptor ligand binding domain-like0.9925Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.9925Inherited
Homeodomain-like1Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
75399,75399
  • 75399 - Plakin repeat
  • 75399 - Plakin repeat
  • 0Direct
    81296,48239
  • 81296 - E set domains
  • 48239 - Terpenoid cyclases/Protein prenyltransferases
  • 0Direct
    49562,48371
  • 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
  • 48371 - ARM repeat
  • 0Direct
    53474,49723
  • 53474 - alpha/beta-Hydrolases
  • 49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)
  • 0Direct
    56645,47203
  • 56645 - Acyl-CoA dehydrogenase NM domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0Direct
    57424,49854
  • 57424 - LDL receptor-like module
  • 49854 - Spermadhesin, CUB domain
  • 0Direct
    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
    103025,101790
  • 103025 - Folate-binding domain
  • 101790 - Aminomethyltransferase beta-barrel domain
  • 0Direct
    54897,52743
  • 54897 - Protease propeptides/inhibitors
  • 52743 - Subtilisin-like
  • 0Direct
    103473,100895
  • 103473 - MFS general substrate transporter
  • 100895 - Kazal-type serine protease inhibitors
  • 0Direct
    47203,47203
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0Direct
    50729,55550
  • 50729 - PH domain-like
  • 55550 - SH2 domain
  • 0Direct
    52096,52096
  • 52096 - ClpP/crotonase
  • 52096 - ClpP/crotonase
  • 0Direct
    55550,55550
  • 55550 - SH2 domain
  • 55550 - SH2 domain
  • 0Direct
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    51905,55424
  • 51905 - FAD/NAD(P)-binding domain
  • 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain
  • 0Direct
    69318,69179
  • 69318 - Integrin alpha N-terminal domain
  • 69179 - Integrin domains
  • 0Direct
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.02639Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.03224Inherited
    47655,49417
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 0.04513Inherited
    49417,55550
  • 49417 - p53-like transcription factors
  • 55550 - SH2 domain
  • 0.04513Inherited
    48092,47655
  • 48092 - Transcription factor STAT-4 N-domain
  • 47655 - STAT
  • 0.04513Inherited
    55550,56112
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 0.05136Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.06541Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.07407Inherited
    53901,53901
  • 53901 - Thiolase-like
  • 53901 - Thiolase-like
  • 0.07631Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.07631Inherited
    55781,109604
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1287Inherited
    47459,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.1287Inherited
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.1287Inherited
    55781,55781
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 0.1287Inherited
    81324,81296
  • 81324 - Voltage-gated potassium channels
  • 81296 - E set domains
  • 0.1587Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.1587Inherited
    52440,56059
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 0.2266Inherited
    51905,54373
  • 51905 - FAD/NAD(P)-binding domain
  • 54373 - FAD-linked reductases, C-terminal domain
  • 0.2266Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.2805Inherited
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.3144Inherited
    56436,56436
  • 56436 - C-type lectin-like
  • 56436 - C-type lectin-like
  • 0.4487Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.9925Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    69318,69179,69179
  • 69318 - Integrin alpha N-terminal domain
  • 69179 - Integrin domains
  • 69179 - Integrin domains
  • 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
    51230,47005,52777
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    69179,69179,69179
  • 69179 - Integrin domains
  • 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
    57716,57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.01528Inherited
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.03224Inherited
    48092,47655,49417
  • 48092 - Transcription factor STAT-4 N-domain
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 0.04513Inherited
    47655,49417,55550
  • 47655 - STAT
  • 49417 - p53-like transcription factors
  • 55550 - SH2 domain
  • 0.04513Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.08049Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.09414Inherited
    57196,57184,57196
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.1246Inherited
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.1287Inherited
    55781,55781,109604
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1287Inherited


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