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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] <15>(68|73) (76|29|12)
- 1:   Abnormality of urine homeostasis [HP:0003110] <57>(15|15) (17|3|0)
- 1:   Abnormal enzyme/coenzyme activity [HP:0012379] <42>(2|0) (2|0|0)
- 1:   Abnormal cellular physiology [HP:0011017] <16>(10|11) (14|3|0)
- 1:   Abnormal circulating metabolite concentration [HP:0032180] <12>(27|25) (30|12|5)
- 1:   Abnormal cerebrospinal fluid metabolite concentration [HP:0032207] <9>(0|0) (0|0|0)
- 1:   Abnormal homeostasis [HP:0012337] <8>(36|40) (41|16|5)
- 1:   Abnormal tissue metabolite concentration [HP:0032243] <8>(1|0) (1|0|0)
- 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:   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)
- 1:   Ketosis [HP:0001946] <2>(0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Fibrinogen coiled-coil and central regions0Direct
Acyl-CoA dehydrogenase C-terminal domain-like0Direct
Ferritin-like0Direct
PRTase-like0Direct
Acyl-CoA dehydrogenase NM domain-like0Direct
Apolipoprotein A-I0Direct
Methylglyoxal synthase-like0Direct
Plakin repeat0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Tricorn protease domain 20Direct
BPTI-like0Direct
Folate-binding domain0Direct
Actin depolymerizing proteins0Direct
Smc hinge domain0Direct
CAD & PB1 domains0Direct
2Fe-2S ferredoxin-like0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
NAD kinase/diacylglycerol kinase-like0Direct
4Fe-4S ferredoxins0Direct
Saposin0Direct
(Trans)glycosidases0.00008309Direct
UDP-Glycosyltransferase/glycogen phosphorylase0.001848Inherited
TNF receptor-like0.01445Inherited
Single hybrid motif0.01875Inherited
SH2 domain0.02267Inherited
DEATH domain0.02622Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.03184Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.03184Inherited
Cytochrome P4500.04406Inherited
Alkaline phosphatase-like0.04921Inherited
alpha/beta-Hydrolases0.05051Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.05301Inherited
Ribonuclease H-like0.05491Inherited
MHC antigen-recognition domain0.05847Inherited
RNI-like0.07158Inherited
FAD/NAD(P)-binding domain0.07233Inherited
CBS-domain pair0.0819Inherited
PreATP-grasp domain0.08996Inherited
Mitochondrial carrier0.1191Inherited
4-helical cytokines0.1197Inherited
Glutathione synthetase ATP-binding domain-like0.1197Inherited
PLP-dependent transferases0.1337Inherited
Clc chloride channel0.1371Inherited
Adenine nucleotide alpha hydrolases-like0.1371Inherited
ClpP/crotonase0.1427Inherited
GAF domain-like0.1444Inherited
Terpenoid synthases0.1444Inherited
Rudiment single hybrid motif0.1444Inherited
L-aspartase-like0.1444Inherited
Insulin-like0.1444Inherited
TNF-like0.162Inherited
HD-domain/PDEase-like0.1713Inherited
MFS general substrate transporter0.2007Inherited
Nucleotide-diphospho-sugar transferases0.2192Inherited
CoA-dependent acyltransferases0.2408Inherited
Tropomyosin0.2408Inherited
E set domains0.2559Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.3703Inherited
RING/U-box0.3983Inherited
Translation proteins0.5686Inherited
Class II aaRS and biotin synthetases0.6261Inherited
Fibrinogen C-terminal domain-like0.682Inherited
Nucleotidylyl transferase0.6937Inherited
C-type lectin-like0.7056Inherited
L domain-like0.9181Inherited
Voltage-gated potassium channels0.9697Inherited
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)
HCDH C-domain-like0Direct
Cystathionine synthase-like0Direct
Fibrinogen coiled-coil and central regions0Direct
Phosphoribosyltransferases (PRTases)0Direct
Long-chain cytokines0Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Apolipoprotein A-I0Direct
beta-glycanases0Direct
Small Kunitz-type inhibitors & BPTI-like toxins0Direct
Ferredoxin domains from multidomain proteins0Direct
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0Direct
Plakin repeat0Direct
Smc hinge domain0Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module0Direct
Gonadodropin/Follitropin0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
IF2B-like0Direct
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0Direct
Diacylglycerol kinase-like0Direct
Glycosyl transferases group 10Direct
Amylase, catalytic domain0Direct
Class I glutamine amidotransferases (GAT)0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
Aminomethyltransferase folate-binding domain0Direct
FAD/NAD-linked reductases, N-terminal and central domains0Direct
Nitrogenase iron protein-like0Direct
Proteasome subunits0Direct
Biotinyl/lipoyl-carrier proteins and domains0.01374Inherited
SH2 domain0.01773Inherited
LIM domain0.01781Inherited
TNF receptor-like0.02913Inherited
Ras-binding domain, RBD0.04212Inherited
BC ATP-binding domain-like0.04212Inherited
BC N-terminal domain-like0.04212Inherited
C1 set domains (antibody constant domain-like)0.04466Inherited
RecA protein-like (ATPase-domain)0.04744Inherited
MHC antigen-recognition domain0.04744Inherited
Cytochrome P4500.05063Inherited
Inositol polyphosphate 5-phosphatase (IPP5)0.0728Inherited
Pyrin domain, PYD0.0728Inherited
CBS-domain pair0.1018Inherited
Arylsulfatase0.1018Inherited
28-residue LRR0.1018Inherited
Mitochondrial carrier0.1022Inherited
Clc chloride channel0.1168Inherited
Insulin-like0.1225Inherited
Hypoxia-inducible factor Hif2a, C-terminal domain0.1225Inherited
Ras GEF0.1225Inherited
Pancreatic lipase, N-terminal domain0.1225Inherited
GAF domain0.1225Inherited
BC C-terminal domain-like0.1225Inherited
DEATH domain, DD0.141Inherited
TNF-like0.141Inherited
Higher-molecular-weight phosphotyrosine protein phosphatases0.1489Inherited
Crotonase-like0.1788Inherited
Noncollagenous (NC1) domain of collagen IV0.1788Inherited
Calponin-homology domain, CH-domain0.1802Inherited
PDEase0.2149Inherited
Tropomyosin0.2149Inherited
Caspase recruitment domain, CARD0.2702Inherited
Phoshoinositide 3-kinase (PI3K), catalytic domain0.305Inherited
Cytoplasmic domain of inward rectifier potassium channel0.3266Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.3664Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.4403Inherited
Fibrinogen C-terminal domain-like0.6604Inherited
PLC-like (P variant)0.7153Inherited
Canonical RBD0.7614Inherited
Ngr ectodomain-like0.8104Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain0.8419Inherited
G proteins0.8689Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.9988Inherited
Nicotinic receptor ligand binding domain-like0.9988Inherited
Voltage-gated potassium channels1Inherited


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)
Acyl-CoA dehydrogenase NM domain-like0Direct
BPTI-like0Direct
PRTase-like0Direct
Folate-binding domain0Direct
Acyl-CoA dehydrogenase C-terminal domain-like0Direct
Apolipoprotein A-I0Direct
NAD kinase/diacylglycerol kinase-like0Direct
Smc hinge domain0Direct
CAD & PB1 domains0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
4Fe-4S ferredoxins0Direct
2Fe-2S ferredoxin-like0Direct
Saposin0Direct
Ferritin-like0Direct
Methylglyoxal synthase-like0Direct
Tricorn protease domain 20Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Plakin repeat0Direct
Fibrinogen coiled-coil and central regions0Direct
Actin depolymerizing proteins0Direct
(Trans)glycosidases0.00004035Direct
UDP-Glycosyltransferase/glycogen phosphorylase0.001077Inherited
TNF receptor-like0.009834Inherited
Single hybrid motif0.013Inherited
SH2 domain0.01591Inherited
DEATH domain0.01859Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)0.02294Inherited
Thiamin diphosphate-binding fold (THDP-binding)0.02294Inherited
Cytochrome P4500.03262Inherited
Alkaline phosphatase-like0.03695Inherited
alpha/beta-Hydrolases0.03799Inherited
Formate/glycerate dehydrogenase catalytic domain-like0.04013Inherited
Ribonuclease H-like0.04173Inherited
MHC antigen-recognition domain0.04461Inherited
RNI-like0.0553Inherited
FAD/NAD(P)-binding domain0.05597Inherited
CBS-domain pair0.06397Inherited
Thiolase-like0.06916Inherited
PreATP-grasp domain0.07079Inherited
Mitochondrial carrier0.09606Inherited
4-helical cytokines0.09669Inherited
Glutathione synthetase ATP-binding domain-like0.09669Inherited
PLP-dependent transferases0.109Inherited
Adenine nucleotide alpha hydrolases-like0.1119Inherited
BRCT domain0.1119Inherited
Clc chloride channel0.1119Inherited
ClpP/crotonase0.117Inherited
Terpenoid synthases0.1185Inherited
L-aspartase-like0.1185Inherited
Ras GEF0.1185Inherited
Restriction endonuclease-like0.1185Inherited
GAF domain-like0.1185Inherited
Insulin-like0.1185Inherited
Rudiment single hybrid motif0.1185Inherited
TNF-like0.134Inherited
HD-domain/PDEase-like0.1421Inherited
MFS general substrate transporter0.1692Inherited
Calponin-homology domain, CH-domain0.1699Inherited
Nucleotide-diphospho-sugar transferases0.1861Inherited
Tropomyosin0.2062Inherited
CoA-dependent acyltransferases0.2062Inherited
E set domains0.2204Inherited
SMAD/FHA domain0.2795Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.3298Inherited
RING/U-box0.3567Inherited
S-adenosyl-L-methionine-dependent methyltransferases0.5157Inherited
Translation proteins0.5265Inherited
Class II aaRS and biotin synthetases0.5861Inherited
Fibrinogen C-terminal domain-like0.6437Inherited
Nucleotidylyl transferase0.6556Inherited
C-type lectin-like0.6677Inherited
RNA-binding domain, RBD0.7746Inherited
L domain-like0.8906Inherited
Voltage-gated potassium channels0.9466Inherited
Nicotinic receptor ligand binding domain-like0.9821Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.9821Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
55550,55550
  • 55550 - SH2 domain
  • 55550 - SH2 domain
  • 0Direct
    47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    52540,90123
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 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
    52096,52096
  • 52096 - ClpP/crotonase
  • 52096 - ClpP/crotonase
  • 0Direct
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    56645,47203
  • 56645 - Acyl-CoA dehydrogenase NM domain-like
  • 47203 - Acyl-CoA dehydrogenase C-terminal domain-like
  • 0Direct
    51905,55424
  • 51905 - FAD/NAD(P)-binding domain
  • 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain
  • 0Direct
    50729,55550
  • 50729 - PH domain-like
  • 55550 - SH2 domain
  • 0Direct
    54897,52743
  • 54897 - Protease propeptides/inhibitors
  • 52743 - Subtilisin-like
  • 0Direct
    53474,49723
  • 53474 - alpha/beta-Hydrolases
  • 49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)
  • 0Direct
    52374,47323
  • 52374 - Nucleotidylyl transferase
  • 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases
  • 0.02294Inherited
    57586,57586
  • 57586 - TNF receptor-like
  • 57586 - TNF receptor-like
  • 0.02738Inherited
    55550,56112
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 0.04461Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.04461Inherited
    53901,53901
  • 53901 - Thiolase-like
  • 53901 - Thiolase-like
  • 0.06916Inherited
    47986,52540
  • 47986 - DEATH domain
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.06916Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.07079Inherited
    52440,56059
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 0.1119Inherited
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.1185Inherited
    55781,109604
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1185Inherited
    55781,55781
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 0.1185Inherited
    47459,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.1185Inherited
    46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.2609Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.2617Inherited
    81324,81296
  • 81324 - Voltage-gated potassium channels
  • 81296 - E set domains
  • 0.3159Inherited
    56436,56436
  • 56436 - C-type lectin-like
  • 56436 - C-type lectin-like
  • 0.4212Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.9821Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    52540,90123,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0Direct
    51230,47005,52777
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    90123,52540,90123
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0Direct
    55550,56112,56112
  • 55550 - SH2 domain
  • 56112 - Protein kinase-like (PK-like)
  • 56112 - Protein kinase-like (PK-like)
  • 0Direct
    50729,55550,56112
  • 50729 - PH domain-like
  • 55550 - SH2 domain
  • 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)
  • 0.013Inherited
    57196,57184,57196
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.1119Inherited
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0.1185Inherited
    55781,55781,109604
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.1185Inherited
    46966,46966,46966
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 46966 - Spectrin repeat
  • 0.1837Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2062Inherited


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