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Disease Ontology (DO): autosomal dominant disease

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

Root: DO Hierarchy (disease ontology from University of Maryland)

Shortest distance to current term (+ for parents, - for children) DO term [DO ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)
+ + + + 4:   disease [DOID:4] <8>
+ + + 3:   genetic disease [DOID:630] <11>(19|28) (22|16|7)
+ + 2:   monogenic disease [DOID:0050177] <7>(17|25) (19|14|6)
+ 1:   autosomal genetic disease [DOID:0050739] <8>(17|24) (19|14|6)
0:   autosomal dominant disease [DOID:0050736] <79>(7|13) (9|8|3)
- 1:   Waardenburg's syndrome [DOID:9258] <10>(0|0) (0|0|0)
- 1:   Axenfeld-Rieger syndrome [DOID:14686] <3>(0|0) (0|0|0)
- 1:   autosomal dominant polycystic kidney disease [DOID:898] <3>(0|0) (0|0|0)
- 1:   hypophosphatasia [DOID:14213] <3>(0|0) (0|0|0)
- 1:   EEC syndrome [DOID:0060782] <2>(0|0) (0|0|0)
- 1:   Lynch syndrome [DOID:3883] <1>(0|0) (0|0|0)
- 1:   ADULT syndrome [DOID:0050601](0|0) (0|0|0)
- 1:   Aarskog syndrome [DOID:6683](0|0) (0|0|0)
- 1:   Bannayan-Riley-Ruvalcaba syndrome [DOID:0050657](0|0) (0|0|0)
- 1:   Bart-Pumphrey syndrome [DOID:0050658](0|0) (0|0|0)
- 1:   Beare-Stevenson cutis gyrata syndrome [DOID:0050660](0|0) (0|0|0)
- 1:   Birk-Barel syndrome [DOID:0050675](0|0) (0|0|0)
- 1:   Birt-Hogg-Dube syndrome [DOID:0050676](0|0) (0|0|0)
- 1:   Blau syndrome [DOID:0050678](0|0) (0|0|0)
- 1:   Brooke-Spiegler syndrome [DOID:0050693](0|0) (0|0|0)
- 1:   Brown-Vialetto-Van Laere syndrome [DOID:0050694](0|0) (0|0|0)
- 1:   Carney complex [DOID:0050471](0|0) (0|0|0)
- 1:   Clouston syndrome [DOID:14693](0|0) (0|0|0)
- 1:   Costello syndrome [DOID:0050469](0|0) (0|0|0)
- 1:   Cowden disease [DOID:6457](0|0) (0|0|0)
- 1:   Denys-Drash syndrome [DOID:3764](0|0) (0|0|0)
- 1:   Duane-radial ray syndrome [DOID:0060747](0|0) (0|0|0)
- 1:   Feingold syndrome [DOID:0060464](0|0) (0|0|0)
- 1:   Frasier syndrome [DOID:0050438](0|0) (0|0|0)
- 1:   Hajdu-Cheney syndrome [DOID:2736](0|0) (0|0|0)
- 1:   Holt-Oram syndrome [DOID:0060468](0|0) (0|0|0)
- 1:   LADD syndrome [DOID:0050331](0|0) (0|0|0)
- 1:   LEOPARD syndrome [DOID:14291](0|1) (1|0|0)
- 1:   Larsen syndrome [DOID:14764](0|0) (0|0|0)
- 1:   Li-Fraumeni syndrome [DOID:3012](0|0) (0|0|0)
- 1:   Loeys-Dietz syndrome [DOID:0050466](0|0) (0|0|0)
- 1:   McCune Albright syndrome [DOID:1858](0|0) (0|0|0)
- 1:   Muckle-Wells syndrome [DOID:0050854](0|0) (0|0|0)
- 1:   PCWH syndrome [DOID:0090111](0|0) (0|0|0)
- 1:   Pelger-Huet anomaly [DOID:9631](0|0) (0|0|0)
- 1:   Rapp-Hodgkin syndrome [DOID:0060330](0|0) (0|0|0)
- 1:   Rubinstein-Taybi syndrome [DOID:1933](0|0) (0|0|0)
- 1:   Stickler syndrome [DOID:0080046](0|0) (0|0|0)
- 1:   Timothy syndrome [DOID:0060173](0|0) (0|0|0)
- 1:   Townes-Brocks syndrome [DOID:0050887](0|0) (0|0|0)
- 1:   Treacher Collins syndrome [DOID:2908](0|0) (0|0|0)
- 1:   ankyloblepharon-ectodermal defects-cleft lip/palate syndrome [DOID:0090119](0|0) (0|0|0)
- 1:   autosomal dominant keratitis-ichthyosis-deafness syndrome [DOID:0060871](0|0) (0|0|0)
- 1:   autosomal dominant microcephaly [DOID:14725](0|0) (0|0|0)
- 1:   blepharophimosis, ptosis, and epicanthus inversus syndrome [DOID:14778](0|0) (0|0|0)
- 1:   branchiooculofacial syndrome [DOID:0050691](0|0) (0|0|0)
- 1:   branchiootorenal syndrome [DOID:14702](0|0) (0|0|0)
- 1:   cherubism [DOID:1856](0|0) (0|0|0)
- 1:   cold-induced sweating syndrome [DOID:0060294](0|0) (0|0|0)
- 1:   dysplastic nevus syndrome [DOID:10041](0|0) (0|0|0)
- 1:   familial adenomatous polyposis [DOID:0050424](0|0) (0|0|0)
- 1:   hand-foot-genital syndrome [DOID:0060739](0|0) (0|0|0)
- 1:   hereditary breast ovarian cancer syndrome [DOID:5683](4|10) (4|8|3)
- 1:   hereditary hemorrhagic telangiectasia [DOID:1270](0|0) (0|0|0)
- 1:   ichthyosis vulgaris [DOID:1702](0|0) (0|0|0)
- 1:   iridogoniodysgenesis syndrome [DOID:0050786](0|0) (0|0|0)
- 1:   juvenile polyposis syndrome [DOID:0050787](0|0) (0|0|0)
- 1:   macrocephaly-autism syndrome [DOID:0060867](0|0) (0|0|0)
- 1:   mandibulofacial dysostosis, Guion-Almeida type [DOID:0080196](0|0) (0|0|0)
- 1:   monilethrix [DOID:0050472](0|0) (0|0|0)
- 1:   multiple cutaneous and mucosal venous malformations [DOID:0050792](0|0) (0|0|0)
- 1:   multiple endocrine neoplasia type 1 [DOID:10017](0|0) (0|0|0)
- 1:   multiple endocrine neoplasia type 2A [DOID:0050430](0|0) (0|0|0)
- 1:   multiple endocrine neoplasia type 2B [DOID:10016](0|0) (0|0|0)
- 1:   multiple endocrine neoplasia type 4 [DOID:0080137](0|0) (0|0|0)
- 1:   nail-patella syndrome [DOID:9467](0|0) (0|0|0)
- 1:   neurofibromatosis [DOID:8712](0|0) (0|0|0)
- 1:   nevoid basal cell carcinoma syndrome [DOID:2512](0|0) (0|0|0)
- 1:   pachyonychia congenita [DOID:0050449](1|1) (1|0|0)
- 1:   photosensitive trichothiodystrophy [DOID:2960](0|0) (0|0|0)
- 1:   piebaldism [DOID:3263](0|0) (0|0|0)
- 1:   polycystic liver disease [DOID:0050770](0|0) (0|0|0)
- 1:   popliteal pterygium syndrome [DOID:0060055](0|0) (0|0|0)
- 1:   proximal symphalangism [DOID:0050788](0|0) (0|0|0)
- 1:   renal coloboma syndrome [DOID:0090006](0|0) (0|0|0)
- 1:   tarsal-carpal coalition syndrome [DOID:0050789](0|0) (0|0|0)
- 1:   trichorhinophalangeal syndrome type I [DOID:14743](0|0) (0|0|0)
- 1:   trichorhinophalangeal syndrome type II [DOID:4998](0|0) (0|0|0)
- 1:   tuberous sclerosis [DOID:13515](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
p53 tetramerization domain0Direct
BRCT domain0.00000000001371Direct
Nuclear receptor coactivator interlocking domain0.000006085Direct
Protein kinase-like (PK-like)0.0001042Direct
SMAD/FHA domain0.0007023Direct
UBC-like0.002281Inherited
Intermediate filament protein, coiled coil region0.0561Inherited


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

Family

(show details)
SCOP termFDR (all)Annotation (direct or inherited)
p53 tetramerization domain0Direct
p53 DNA-binding domain-like0Direct
Nuclear receptor coactivator interlocking domain0.000004381Direct
RecA protein-like (ATPase-domain)0.0001712Direct
Single strand DNA-binding domain, SSB0.0002506Direct
Protein kinases, catalytic subunit0.0002682Direct
DNA gyrase/MutL, N-terminal domain0.0006246Direct
DNA gyrase/MutL, second domain0.0006246Direct
FHA domain0.002332Inherited
UBC-related0.004119Inherited
Ras-binding domain, RBD0.03644Inherited
Intermediate filament protein, coiled coil region0.0481Inherited
L domain0.1182Inherited


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

Supra-domain (including individual superfamily)

(show details)
Supra-domain (Single) FDR (all) Annotation (direct or inherited)
p53 tetramerization domain0Direct
BRCT domain0.000000000006189Direct
Nuclear receptor coactivator interlocking domain0.000003279Direct
Protein kinase-like (PK-like)0.00006122Direct
SMAD/FHA domain0.0004323Direct
p53-like transcription factors0.0009983Direct
UBC-like0.001499Inherited
Intermediate filament protein, coiled coil region0.04292Inherited
Ubiquitin-like0.05067Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
49417,47719
  • 49417 - p53-like transcription factors
  • 47719 - p53 tetramerization domain
  • 0Direct
    52113,52113
  • 52113 - BRCT domain
  • 52113 - BRCT domain
  • 0Direct
    47459,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.000309Direct
    55874,54211
  • 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase
  • 54211 - Ribosomal protein S5 domain 2-like
  • 0.001045Inherited
    55785,55785
  • 55785 - PYP-like sensor domain (PAS domain)
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.002822Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.00443Inherited
    57184,52058
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 0.1092Inherited
    52058,57184
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 0.1092Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    57184,52058,57184
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 0.00005282Direct
    47459,55785,55785
  • 47459 - HLH, helix-loop-helix DNA-binding domain
  • 55785 - PYP-like sensor domain (PAS domain)
  • 55785 - PYP-like sensor domain (PAS domain)
  • 0.00178Inherited
    52058,57184,52058
  • 52058 - L domain-like
  • 57184 - Growth factor receptor domain
  • 52058 - L domain-like
  • 0.1092Inherited


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
    Plot tree as:   Download Newick format tree:
    (show help)