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Phenotypic Abnormality (PA): Abnormality of the endocrine system

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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 the endocrine system [HP:0000818] <16>(30|34) (35|12|5)
- 1:   Abnormal circulating hormone level [HP:0003117] <28>(4|9) (6|4|1)
- 1:   Puberty and gonadal disorders [HP:0008373] <13>(17|18) (20|3|1)
- 1:   Diabetes mellitus [HP:0000819] <6>(2|2) (3|2|3)
- 1:   Neoplasm of the endocrine system [HP:0100568] <6>(6|5) (6|3|0)
- 1:   Abnormal urine hormone level [HP:0012029] <5>(0|0) (0|0|0)
- 1:   Abnormality of the thymus [HP:0000777] <5>(0|0) (0|0|0)
- 1:   Abnormal endocrine physiology [HP:0031072] <4>(0|0) (0|0|0)
- 1:   Abnormality of renin-angiotensin system [HP:0000847] <3>(3|3) (3|1|0)
- 1:   Abnormality of the adrenal glands [HP:0000834] <2>(4|5) (5|1|0)
- 1:   Abnormality of the hypothalamus-pituitary axis [HP:0000864] <2>(6|8) (7|2|0)
- 1:   Abnormality of the parathyroid gland [HP:0000828] <2>(0|0) (1|0|0)
- 1:   Abnormality of the pineal gland [HP:0012680] <2>(0|0) (0|0|0)
- 1:   Abnormality of the thyroid gland [HP:0000820] <2>(8|7) (8|3|0)
- 1:   Diabetes insipidus [HP:0000873] <2>(2|2) (2|1|0)
- 1:   Abnormality of endocrine pancreas physiology [HP:0012093] <1>(0|0) (0|0|0)
- 1:   Abnormal endocrine morphology [HP:0031071](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
Smc hinge domain0Direct
DNA repair protein MutS, domain III0Direct
Fibrinogen coiled-coil and central regions0Direct
Restriction endonuclease-like0Direct
SAND domain-like0Direct
Nuclear receptor ligand-binding domain0.002543Inherited
Ribonuclease H-like0.002959Inherited
Plexin repeat0.01349Inherited
Sema domain0.01599Inherited
HD-domain/PDEase-like0.01599Inherited
GAF domain-like0.03138Inherited
RuvA domain 2-like0.03138Inherited
MHC antigen-recognition domain0.05211Inherited
Family A G protein-coupled receptor-like0.05646Inherited
RING/U-box0.06664Inherited
NagB/RpiA/CoA transferase-like0.07114Inherited
HMG-box0.08153Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.0955Inherited
SET domain0.155Inherited
p53-like transcription factors0.1595Inherited
Homeodomain-like0.1855Inherited
Fibrinogen C-terminal domain-like0.2237Inherited
Trypsin-like serine proteases0.2613Inherited
Cytochrome P4500.3478Inherited
Ribosomal protein S5 domain 2-like0.4447Inherited
E set domains0.5317Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.5757Inherited
Immunoglobulin0.6937Inherited
Voltage-gated potassium channels0.7812Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
Gonadodropin/Follitropin0Direct
Dimeric isocitrate & isopropylmalate dehydrogenases0Direct
Long-chain cytokines0Direct
Smc hinge domain0Direct
IF2B-like0Direct
XPF/Rad1/Mus81 nuclease0Direct
Fibrinogen coiled-coil and central regions0Direct
DNA repair protein MutS, domain III0Direct
Nuclear receptor ligand-binding domain0.001925Inherited
Nuclear receptor0.002289Inherited
DNA polymerase I0.008791Inherited
DNA gyrase/MutL, second domain0.008791Inherited
DNA gyrase/MutL, N-terminal domain0.008791Inherited
Acetylcholinesterase-like0.008791Inherited
Plexin repeat0.01044Inherited
Sema domain0.01221Inherited
Tyrosine-dependent oxidoreductases0.02074Inherited
GAF domain0.0241Inherited
Hypoxia-inducible factor Hif2a, C-terminal domain0.0241Inherited
PDEase0.02761Inherited
Rhodopsin-like0.03525Inherited
MHC antigen-recognition domain0.04364Inherited
G proteins0.04401Inherited
Cytoplasmic domain of inward rectifier potassium channel0.05127Inherited
HMG-box0.07193Inherited
Histone lysine methyltransferases0.08243Inherited
Homeodomain0.1115Inherited
C1 set domains (antibody constant domain-like)0.1322Inherited
Ngr ectodomain-like0.1464Inherited
Fibrinogen C-terminal domain-like0.2023Inherited
PLC-like (P variant)0.2132Inherited
Eukaryotic proteases0.2985Inherited
Cytochrome P4500.4346Inherited
Voltage-gated potassium channels0.6605Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
SAND domain-like0Direct
DNA repair protein MutS, domain III0Direct
Smc hinge domain0Direct
Isocitrate/Isopropylmalate dehydrogenase-like0Direct
Restriction endonuclease-like0Direct
Fibrinogen coiled-coil and central regions0Direct
Nuclear receptor ligand-binding domain0.001479Inherited
Ribonuclease H-like0.001747Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.006007Inherited
Plexin repeat0.008985Inherited
DNA/RNA polymerases0.0105Inherited
Sema domain0.01078Inherited
HD-domain/PDEase-like0.01078Inherited
Cystine-knot cytokines0.0112Inherited
GAF domain-like0.02234Inherited
RuvA domain 2-like0.02234Inherited
MHC antigen-recognition domain0.0389Inherited
Family A G protein-coupled receptor-like0.04249Inherited
RING/U-box0.05085Inherited
NagB/RpiA/CoA transferase-like0.05454Inherited
HMG-box0.06329Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.07513Inherited
NAD(P)-binding Rossmann-fold domains0.09853Inherited
SET domain0.1275Inherited
p53-like transcription factors0.1315Inherited
Homeodomain-like0.1546Inherited
Fibrinogen C-terminal domain-like0.1895Inherited
Trypsin-like serine proteases0.2249Inherited
S-adenosyl-L-methionine-dependent methyltransferases0.286Inherited
Cytochrome P4500.3072Inherited
Ribosomal protein S5 domain 2-like0.4018Inherited
E set domains0.4886Inherited
C2 domain (Calcium/lipid-binding domain, CaLB)0.5337Inherited
Immunoglobulin0.6555Inherited
Voltage-gated potassium channels0.7462Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
52980,47781
  • 52980 - Restriction endonuclease-like
  • 47781 - RuvA domain 2-like
  • 0Direct
    48334,52540
  • 48334 - DNA repair protein MutS, domain III
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0Direct
    103575,48726
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0Direct
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.007994Inherited
    101912,103575
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 0.01078Inherited
    57716,48508
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 48508 - Nuclear receptor ligand-binding domain
  • 0.02181Inherited
    55781,55781
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 0.02234Inherited
    47459,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.02234Inherited
    55781,109604
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.02234Inherited
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.0389Inherited
    81324,81296
  • 81324 - Voltage-gated potassium channels
  • 81296 - E set domains
  • 0.04652Inherited
    57716,57716
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 57716 - Glucocorticoid receptor-like (DNA-binding domain)
  • 0.1944Inherited

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    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    63825,57196,63825
  • 63825 - YWTD domain
  • 57196 - EGF/Laminin
  • 63825 - YWTD domain
  • 0Direct
    101912,103575,48726
  • 101912 - Sema domain
  • 103575 - Plexin repeat
  • 48726 - Immunoglobulin
  • 0Direct
    55781,55781,109604
  • 55781 - GAF domain-like
  • 55781 - GAF domain-like
  • 109604 - HD-domain/PDEase-like
  • 0.02234Inherited
    57196,57184,57196
  • 57196 - EGF/Laminin
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 0.1742Inherited
    57184,57196,57196
  • 57184 - Growth factor receptor domain
  • 57196 - EGF/Laminin
  • 57196 - EGF/Laminin
  • 0.2404Inherited


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