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Disease Ontology (DO): autosomal recessive 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 recessive disease [DOID:0050737] <89>(10|11) (10|6|3)
- 1:   Bardet-Biedl syndrome [DOID:1935] <19>(2|1) (2|0|0)
- 1:   nephronophthisis [DOID:12712] <16>(0|0) (0|0|0)
- 1:   asphyxiating thoracic dystrophy [DOID:0050592] <13>(0|0) (0|0|0)
- 1:   Hermansky-Pudlak syndrome [DOID:3753] <9>(0|0) (0|0|0)
- 1:   xeroderma pigmentosum [DOID:0050427] <8>(0|0) (0|0|0)
- 1:   Usher syndrome [DOID:0050439] <4>(1|1) (1|1|0)
- 1:   Warburg micro syndrome [DOID:0060237] <4>(0|0) (0|0|0)
- 1:   immunodeficiency-centromeric instability-facial anomalies syndrome [DOID:0090007] <4>(0|0) (0|0|0)
- 1:   Griscelli syndrome [DOID:0060831] <3>(0|0) (0|0|0)
- 1:   leukocyte adhesion deficiency [DOID:6612] <2>(0|0) (0|0|0)
- 1:   thalassemia [DOID:10241] <2>(1|1) (1|0|0)
- 1:   3-M syndrome [DOID:0060241](0|0) (0|0|0)
- 1:   ABCD syndrome [DOID:0050600](0|0) (0|0|0)
- 1:   Aicardi-Goutieres syndrome [DOID:0050629](0|0) (0|0|0)
- 1:   Alstrom syndrome [DOID:0050473](0|0) (0|0|0)
- 1:   Antley-Bixler syndrome [DOID:0050462](0|0) (0|0|0)
- 1:   Athabaskan brainstem dysgenesis syndrome [DOID:0050682](0|0) (0|0|0)
- 1:   Bjornstad syndrome [DOID:0050677](0|0) (0|0|0)
- 1:   Bloom syndrome [DOID:2717](0|0) (0|0|0)
- 1:   Bowen-Conradi syndrome [DOID:0050684](0|0) (0|0|0)
- 1:   CEDNIK syndrome [DOID:0060337](0|0) (0|0|0)
- 1:   Chediak-Higashi syndrome [DOID:2935](0|0) (0|0|0)
- 1:   Cockayne syndrome [DOID:2962](0|0) (0|0|0)
- 1:   Donnai-Barrow syndrome [DOID:0090144](0|0) (0|0|0)
- 1:   Donohue syndrome [DOID:0050470](0|0) (0|0|0)
- 1:   Ellis-Van Creveld syndrome [DOID:12714](0|0) (0|0|0)
- 1:   Fraser syndrome [DOID:0090001](0|0) (0|0|0)
- 1:   Galloway-Mowat syndrome [DOID:0060364](0|0) (0|0|0)
- 1:   JMP syndrome [DOID:0050553](0|0) (0|0|0)
- 1:   Johanson-Blizzard syndrome [DOID:14694](0|0) (0|0|0)
- 1:   Kahrizi syndrome [DOID:0050807](0|0) (0|0|0)
- 1:   Laron syndrome [DOID:9521](0|0) (0|0|0)
- 1:   Laurence-Moon syndrome [DOID:1930](0|0) (0|0|0)
- 1:   Marinesco-Sjogren syndrome [DOID:0080195](0|0) (0|0|0)
- 1:   Meier-Gorlin syndrome [DOID:0060306](0|0) (0|0|0)
- 1:   Nasu-Hakola disease [DOID:0090112](0|0) (0|0|0)
- 1:   Netherton syndrome [DOID:0050474](0|0) (0|0|0)
- 1:   Nijmegen breakage syndrome [DOID:7400](0|0) (0|0|0)
- 1:   PHARC syndrome [DOID:0080181](0|0) (0|0|0)
- 1:   Pendred Syndrome [DOID:0060744](0|0) (0|0|0)
- 1:   Perrault syndrome [DOID:0050857](0|0) (0|0|0)
- 1:   Pierson syndrome [DOID:0060852](0|0) (0|0|0)
- 1:   RIDDLE syndrome [DOID:0090113](0|0) (0|0|0)
- 1:   Roberts syndrome [DOID:5325](0|0) (0|0|0)
- 1:   SC phocomelia syndrome [DOID:0050536](0|0) (0|0|0)
- 1:   Schwartz-Jampel syndrome 1 [DOID:0090005](0|0) (0|0|0)
- 1:   Seckel syndrome [DOID:0050569](0|0) (0|0|0)
- 1:   Senior-Loken syndrome [DOID:0050576](0|0) (0|0|0)
- 1:   Sensenbrenner syndrome [DOID:0050577](0|0) (0|0|0)
- 1:   Sjogren-Larsson syndrome [DOID:14501](0|0) (0|0|0)
- 1:   Sotos syndrome [DOID:14748](0|0) (0|0|0)
- 1:   UV-sensitive syndrome [DOID:0060240](0|0) (0|0|0)
- 1:   Vici syndrome [DOID:0060356](0|0) (0|0|0)
- 1:   Werner syndrome [DOID:5688](0|0) (0|0|0)
- 1:   Wolcott-Rallison syndrome [DOID:0090060](0|0) (0|0|0)
- 1:   achalasia microcephaly syndrome [DOID:0050796](0|0) (0|0|0)
- 1:   autosomal recessive polycystic kidney disease [DOID:0110861](0|0) (0|0|0)
- 1:   beta-ketothiolase deficiency [DOID:14723](0|0) (0|0|0)
- 1:   brachyolmia-amelogenesis imperfecta syndrome [DOID:0090143](0|0) (0|0|0)
- 1:   branched-chain keto acid dehydrogenase kinase deficiency [DOID:0090126](0|0) (0|0|0)
- 1:   camptodactyly-arthropathy-coxa vara-pericarditis syndrome [DOID:0090127](0|0) (0|0|0)
- 1:   cartilage-hair hypoplasia [DOID:14773](0|0) (0|0|0)
- 1:   cleft lip-palate-ectodermal dysplasia syndrome [DOID:0060773](0|0) (0|0|0)
- 1:   congenital ichthyosiform erythroderma [DOID:1699](0|0) (0|0|0)
- 1:   cystic fibrosis [DOID:1485](2|2) (2|1|0)
- 1:   dilated cardiomyopathy with woolly hair and keratoderma [DOID:0090128](0|0) (0|0|0)
- 1:   epidermodysplasia verruciformis [DOID:13777](0|0) (0|0|0)
- 1:   epidermolysis bullosa simplex with muscular dystrophy [DOID:0090017](0|0) (0|0|0)
- 1:   fibular hypoplasia and complex brachydactyly [DOID:0050790](0|0) (0|0|0)
- 1:   hydrolethalus syndrome [DOID:0050779](0|0) (0|0|0)
- 1:   hypertelorism, microtia, facial clefting syndrome [DOID:14670](0|0) (0|0|0)
- 1:   hypoparathyroidism-retardation-dysmorphism syndrome [DOID:0060348](0|0) (0|0|0)
- 1:   microphthalmia with limb anomalies [DOID:0060861](0|0) (0|0|0)
- 1:   mulibrey nanism [DOID:0050436](0|0) (0|0|0)
- 1:   multiple intestinal atresia [DOID:14671](0|0) (0|0|0)
- 1:   nonphotosensitive trichothiodystrophy [DOID:0050528](0|0) (0|0|0)
- 1:   oculocutaneous albinism [DOID:0050632](0|0) (0|0|0)
- 1:   osteoporosis-pseudoglioma syndrome [DOID:0060849](0|0) (0|0|0)
- 1:   progeria [DOID:3911](0|0) (0|0|0)
- 1:   prothrombin deficiency [DOID:2235](0|0) (0|0|0)
- 1:   pseudo-TORCH syndrome 1 [DOID:0050656](0|0) (0|0|0)
- 1:   pseudoxanthoma elasticum [DOID:2738](1|1) (1|1|1)
- 1:   rapadilino syndrome [DOID:0050774](0|0) (0|0|0)
- 1:   salt and pepper syndrome [DOID:0060470](0|0) (0|0|0)
- 1:   sickle cell anemia [DOID:10923](2|2) (2|1|0)
- 1:   temtamy preaxial brachydactyly syndrome [DOID:0050814](0|0) (0|0|0)
- 1:   thiamine-responsive megaloblastic anemia syndrome [DOID:0090117](0|0) (0|0|0)
- 1:   triple-A syndrome [DOID:0050602](0|0) (0|0|0)
- 1:   urofacial syndrome [DOID:0050816](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Globin-like0.00000291Direct
ABC transporter transmembrane region0.00001273Direct
Triple coiled coil domain of C-type lectins0.0002888Direct
MHC antigen-recognition domain0.0005322Direct
Heme-dependent peroxidases0.002349Inherited
GroEL equatorial domain-like0.002349Inherited
Complement control module/SCR domain0.01425Inherited
Immunoglobulin0.1601Inherited
PDZ domain-like0.2182Inherited
TPR-like0.3353Inherited


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

Family

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SCOP termFDR (all)Annotation (direct or inherited)
ABC transporter transmembrane region0.00000144Direct
Globins0.000001818Direct
Triple coiled coil domain of C-type lectins0.0001885Direct
Transglutaminase core0.0001915Direct
Fibronectin type II module0.0003377Direct
MHC antigen-recognition domain0.0003588Direct
C1 set domains (antibody constant domain-like)0.0003588Direct
Myeloperoxidase-like0.001625Inherited
Complement control module/SCR domain0.01074Inherited
PDZ domain0.08148Inherited
Tetratricopeptide repeat (TPR)0.1955Inherited


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)
Globin-like0.000001552Direct
ABC transporter transmembrane region0.000006989Direct
Triple coiled coil domain of C-type lectins0.0001748Direct
MHC antigen-recognition domain0.0003261Direct
GroEL equatorial domain-like0.001545Inherited
Heme-dependent peroxidases0.001545Inherited
Complement control module/SCR domain0.01011Inherited
Immunoglobulin0.1301Inherited
PDZ domain-like0.1815Inherited
TPR-like0.288Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
90123,52540
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.000006989Direct
    54452,48726
  • 54452 - MHC antigen-recognition domain
  • 48726 - Immunoglobulin
  • 0.0001546Direct
    57944,56436
  • 57944 - Triple coiled coil domain of C-type lectins
  • 56436 - C-type lectin-like
  • 0.0001748Direct
    52540,90123
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0.0001759Direct
    57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.01228Inherited
    50156,50156
  • 50156 - PDZ domain-like
  • 50156 - PDZ domain-like
  • 0.01616Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    90123,52540,90123
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 0.0001759Direct
    52540,90123,52540
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 90123 - ABC transporter transmembrane region
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 0.0001759Direct
    57535,57535,57535
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 57535 - Complement control module/SCR domain
  • 0.05408Inherited


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