Mode of Inheritance (MI): Autosomal recessive inheritance

Biomedical Ontology
Like Gene Ontology (GO), biomedical ontology such as phenotype ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph (DAG) by viewing an individual term as a node and its relations to parental terms (allowing for multiple parents) as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Biomedical ontologies we have incorporated are as follows:

Disease Ontology (DO) Ontology
DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI’s thesaurus, SNOMED and OMIM.
Human Phenotype (HP) Ontology
HP captures phenotypic abnormalities that are described in OMIM, along with the corresponding disease-causing genes. It includes three complementary biological concepts: Mode_of_Inheritance (MI), ONset_and_clinical_course (ON), and Phenotypic_Abnormality (PA).
Mouse Phenotype (MP) Ontology
MP describes phenotypes of the mouse after a specific gene is genetically disrupted. Using it, Mouse Genome Informatics (MGI) provides high-coverate gene-level phenotypes for the mouse.
Worm Phenotype (WP) Ontology
WP classifies and organizes phenotype descriptions for C. elegans and other nematodes. Using it, WormBase provides primary resource for phenotype annotations for C. elegans.
Yeast Phenotype (YP) Ontology
Based on YP which is the major contributor to the ‘Ascomycete phenotype ontology’, Saccharomyces Genome Database (SGD) provides single mutant phenotypes for every gene in the yeast genome.
Fly Phenotype (FP) Ontology
FP refers to FlyBase controlled vocabulary. Specifically, a structured controlled vocabulary is used for the annotation of alleles (for their mutagen etc) in FlyBase.
Fly Anatomy (FA) Ontology
FA is a structured controlled vocabulary of the anatomy of Drosophila melanogaster, used for the description of phenotypes and where a gene is expressed.
Zebrafish Anatomy (ZA) Ontology
ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
Xenopus Anatomy (XA) Ontology
XA represents the lineage of tissues and the timing of development for frogs (Xenopus laevis and Xenopus tropicalis). It is used to annotate Xenopus gene expression patterns and mutant and morphant phenotypes.
Arabidopsis Plant Ontology (AP) Ontology
As a major contributor to Plant Ontology which describes plant anatomical and morphological structures (AN) and growth and developmental stages (DE), the Arabidopsis Information Resource (TAIR) provides arabidopsis plant ontology annotations for the model higher plant Arabidopsis thaliana.
Enzyme Commission (EC) Ontology
Each enzyme is allocated a four-digit EC number, the first three digits of which define the reaction catalysed and the fourth of which is a unique identifier (serial number). Each enzyme is also assigned a systematic name that uniquely defines the reaction catalysed.
UniProtKB KeyWords (KW) Ontology
Keywords in UniProtKB are controlled vocabulary, providing a summary of the entry content and are used to index UniProtKB/Swiss-Prot entries based on 10 categories (the category "Technical term" being excluded here). Each keyword is attributed manually to UniProtKB/Swiss-Prot entries and automatically to UniProtKB/TrEMBL entries (according to specific annotation rules).
CTD Diseases (CD) Ontology
CD is MEDIC disease vocabulary that is modified by CTD from the "Diseases" [C] branch of Medical Subject Headings (MeSH), combined with genetic disorders from the Online Mendelian Inheritance in OMIM database.
CTD Chemicals (CC) Ontology
CC is chemical vocabulary that is adapted by CTD from the "Chemicals and Drugs" category and Supplementary Concept Records of Medical Subject Headings (MeSH, a hierarchical vocabulary used to index articles for MEDLINE/PubMed).

Superfamily

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Superfamily

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SCOP term	FDR (all)	Annotation (direct or inherited)
PX domain	0	Direct
C-terminal, gelsolin-like domain of Sec23/24	0	Direct
Tricorn protease domain 2	0	Direct
Acyl-CoA dehydrogenase C-terminal domain-like	0	Direct
DHS-like NAD/FAD-binding domain	0	Direct
Rhodanese/Cell cycle control phosphatase	0	Direct
TK C-terminal domain-like	0	Direct
Folate-binding domain	0	Direct
Methylglyoxal synthase-like	0	Direct
Anaphylotoxins (complement system)	0	Direct
Kazal-type serine protease inhibitors	0	Direct
HIT-like	0	Direct
NagB/RpiA/CoA transferase-like	0	Direct
ThrRS/AlaRS common domain	0	Direct
RmlC-like cupins	0	Direct
Quinoprotein alcohol dehydrogenase-like	0	Direct
Cytochrome b5-like heme/steroid binding domain	0	Direct
CalX-like	0	Direct
NAD(P)-linked oxidoreductase	0	Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex	0	Direct
Restriction endonuclease-like	0	Direct
Cytidine deaminase-like	0	Direct
CAD & PB1 domains	0	Direct
Plakin repeat	0	Direct
Rudiment single hybrid motif	0	Direct
FAD-linked oxidases, C-terminal domain	0	Direct
Helical domain of Sec23/24	0	Direct
Heme-dependent peroxidases	0	Direct
HCP-like	0	Direct
Thyroglobulin type-1 domain	0	Direct
L-aspartase-like	0	Direct
Integrin beta tail domain	0	Direct
Trefoil	0	Direct
DNA repair protein MutS, domain III	0	Direct
FKBP-like	0	Direct
Phoshotransferase/anion transport protein	0	Direct
4Fe-4S ferredoxins	0	Direct
Acyl-CoA dehydrogenase NM domain-like	0	Direct
Fibrinogen coiled-coil and central regions	0	Direct
Saposin	0	Direct
Hairpin loop containing domain-like	0	Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases	0	Direct
Ribonuclease PH domain 2-like	0	Direct
tRNA-intron endonuclease catalytic domain-like	0	Direct
FAD-binding/transporter-associated domain-like	0	Direct
ValRS/IleRS/LeuRS editing domain	0	Direct
Class I glutamine amidotransferase-like	0	Direct
FabD/lysophospholipase-like	0	Direct
RUN domain-like	0	Direct
NAD kinase/diacylglycerol kinase-like	0	Direct
Aldolase	0	Direct
LuxS/MPP-like metallohydrolase	0	Direct
Serum albumin-like	0	Direct
Adenine nucleotide alpha hydrolases-like	0	Direct
GroEL equatorial domain-like	0	Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)	0	Direct
Metallo-dependent hydrolases	0	Direct
Carbohydrate phosphatase	0	Direct
Pentein	0	Direct
Nucleotide-diphospho-sugar transferases	0.00008924	Direct
Class II aaRS and biotin synthetases	0.0003075	Direct

LINKTO: Domain2BO Download and Domain2BO Algorithm

Family

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Family

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SCOP term	FDR (all)	Annotation (direct or inherited)
Pancreatic lipase, N-terminal domain	0	Direct
CalX-beta domain	0	Direct
Thyroglobulin type-1 domain	0	Direct
Proteasome subunits	0	Direct
Ferredoxin domains from multidomain proteins	0	Direct
C-terminal, gelsolin-like domain of Sec23/24	0	Direct
BC N-terminal domain-like	0	Direct
DNA repair protein MutS, domain III	0	Direct
Gonadodropin/Follitropin	0	Direct
Helical domain of Sec23/24	0	Direct
ValRS/IleRS/LeuRS editing domain	0	Direct
Inositol monophosphatase/fructose-1,6-bisphosphatase-like	0	Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases	0	Direct
Clathrin adaptor core protein	0	Direct
Cytochrome b5	0	Direct
Glutathione peroxidase-like	0	Direct
RUN domain	0	Direct
Integrin beta EGF-like domains	0	Direct
Netrin-like domain (NTR/C345C module)	0	Direct
beta-glycanases	0	Direct
Class I glutamine amidotransferases (GAT)	0	Direct
tRNA-intron endonuclease catalytic domain-like	0	Direct
MPP-like	0	Direct
Class I aldolase	0	Direct
Pancreatic carboxypeptidases	0	Direct
Nitrogenase iron protein-like	0	Direct
Diacylglycerol kinase-like	0	Direct
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain	0	Direct
Cystathionine synthase-like	0	Direct
Trefoil	0	Direct
XPF/Rad1/Mus81 nuclease	0	Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module	0	Direct
FKBP immunophilin/proline isomerase	0	Direct
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains	0	Direct
Anaphylotoxins (complement system)	0	Direct
L-aspartase/fumarase	0	Direct
Ribonuclease PH domain 1-like	0	Direct
Plakin repeat	0	Direct
Tudor domain	0	Direct
Biotin dependent carboxylase carboxyltransferase domain	0	Direct
Myeloperoxidase-like	0	Direct
Exostosin	0	Direct
PX domain	0	Direct
Branched-chain alpha-keto acid dehydrogenase beta-subunit, C-terminal-domain	0	Direct
Ovomucoid domain III-like	0	Direct
Glutathione S-transferase (GST), C-terminal domain	0	Direct
BC C-terminal domain-like	0	Direct
Aldo-keto reductases (NADP)	0	Direct
Ribonuclease PH domain 2-like	0	Direct
Osteonectin	0	Direct
beta-sandwich domain of Sec23/24	0	Direct
Trunk domain of Sec23/24	0	Direct
Fibrinogen coiled-coil and central regions	0	Direct
Adenosine/AMP deaminase	0	Direct
Anticodon-binding domain	0	Direct
Lipoxigenase N-terminal domain	0	Direct
Reprolysin-like	0	Direct
Aminomethyltransferase folate-binding domain	0	Direct
IF2B-like	0	Direct
Serum albumin-like	0	Direct
Integrin beta tail domain	0	Direct
BC ATP-binding domain-like	0	Direct
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain	0.0005922	Direct

LINKTO: Domain2BO Download and Domain2BO Algorithm

Supra-domain (Single|Duplex|Triple)

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Supra-domain (Single)

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Supra-domain (Single)	FDR (all)	Annotation (direct or inherited)
Class I glutamine amidotransferase-like	0	Direct
PX domain	0	Direct
Carbohydrate phosphatase	0	Direct
RUN domain-like	0	Direct
Saposin	0	Direct
Cytidine deaminase-like	0	Direct
HCP-like	0	Direct
Phoshotransferase/anion transport protein	0	Direct
Hairpin loop containing domain-like	0	Direct
FAD-linked oxidases, C-terminal domain	0	Direct
FKBP-like	0	Direct
Heme-dependent peroxidases	0	Direct
FAD-binding/transporter-associated domain-like	0	Direct
C-terminal, gelsolin-like domain of Sec23/24	0	Direct
RmlC-like cupins	0	Direct
DHS-like NAD/FAD-binding domain	0	Direct
4Fe-4S ferredoxins	0	Direct
Folate-binding domain	0	Direct
FabD/lysophospholipase-like	0	Direct
Acyl-CoA dehydrogenase C-terminal domain-like	0	Direct
Rhodanese/Cell cycle control phosphatase	0	Direct
NAD kinase/diacylglycerol kinase-like	0	Direct
Tricorn protease domain 2	0	Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex	0	Direct
NAD(P)-linked oxidoreductase	0	Direct
Kazal-type serine protease inhibitors	0	Direct
Aldolase	0	Direct
Cytochrome b5-like heme/steroid binding domain	0	Direct
Acyl-CoA dehydrogenase NM domain-like	0	Direct
ValRS/IleRS/LeuRS editing domain	0	Direct
Methylglyoxal synthase-like	0	Direct
Integrin beta tail domain	0	Direct
Serum albumin-like	0	Direct
LuxS/MPP-like metallohydrolase	0	Direct
Anaphylotoxins (complement system)	0	Direct
NagB/RpiA/CoA transferase-like	0	Direct
CalX-like	0	Direct
Adenine nucleotide alpha hydrolases-like	0	Direct
Ribonuclease PH domain 2-like	0	Direct
N-terminal nucleophile aminohydrolases (Ntn hydrolases)	0	Direct
tRNA-intron endonuclease catalytic domain-like	0	Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases	0	Direct
Quinoprotein alcohol dehydrogenase-like	0	Direct
Helical domain of Sec23/24	0	Direct
DNA repair protein MutS, domain III	0	Direct
Rudiment single hybrid motif	0	Direct
GroEL equatorial domain-like	0	Direct
Trefoil	0	Direct
L-aspartase-like	0	Direct
Thyroglobulin type-1 domain	0	Direct
HIT-like	0	Direct
Fibrinogen coiled-coil and central regions	0	Direct
Pentein	0	Direct
ThrRS/AlaRS common domain	0	Direct
Restriction endonuclease-like	0	Direct
Plakin repeat	0	Direct
TK C-terminal domain-like	0	Direct
CAD & PB1 domains	0	Direct
Metallo-dependent hydrolases	0	Direct
Nucleotide-diphospho-sugar transferases	0.00006456	Direct
Class II aaRS and biotin synthetases	0.0002343	Direct

LINKTO: Supra-domain2BO Download and Supra-domain2BO Algorithm

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Supra-domain (Duplex) in N- to C-terminal order

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Supra-domain (Duplex) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
47203,47203 47203 - Acyl-CoA dehydrogenase C-terminal domain-like 47203 - Acyl-CoA dehydrogenase C-terminal domain-like	0	Direct
57184,49899 57184 - Growth factor receptor domain 49899 - Concanavalin A-like lectins/glucanases	0	Direct
53300,53300 53300 - vWA-like 53300 - vWA-like	0	Direct
64268,50044 64268 - PX domain 50044 - SH3-domain	0	Direct
48552,48552 48552 - Serum albumin-like 48552 - Serum albumin-like	0	Direct
81811,82754 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24	0	Direct
56645,47203 56645 - Acyl-CoA dehydrogenase NM domain-like 47203 - Acyl-CoA dehydrogenase C-terminal domain-like	0	Direct
52374,47323 52374 - Nucleotidylyl transferase 47323 - Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases	0	Direct
52518,52518 52518 - Thiamin diphosphate-binding fold (THDP-binding) 52518 - Thiamin diphosphate-binding fold (THDP-binding)	0	Direct
54211,55666 54211 - Ribosomal protein S5 domain 2-like 55666 - Ribonuclease PH domain 2-like	0	Direct
75399,75399 75399 - Plakin repeat 75399 - Plakin repeat	0	Direct
49854,57424 49854 - Spermadhesin, CUB domain 57424 - LDL receptor-like module	0	Direct
56059,51246 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif	0	Direct
49410,50242 49410 - Alpha-macroglobulin receptor domain 50242 - TIMP-like	0	Direct
57850,57845 57850 - RING/U-box 57845 - B-box zinc-binding domain	0	Direct
53300,81995 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24	0	Direct
103473,100895 103473 - MFS general substrate transporter 100895 - Kazal-type serine protease inhibitors	0	Direct
57196,49899 57196 - EGF/Laminin 49899 - Concanavalin A-like lectins/glucanases	0	Direct
52980,47781 52980 - Restriction endonuclease-like 47781 - RuvA domain 2-like	0	Direct
56176,55103 56176 - FAD-binding/transporter-associated domain-like 55103 - FAD-linked oxidases, C-terminal domain	0	Direct
57196,69687 57196 - EGF/Laminin 69687 - Integrin beta tail domain	0	Direct
52799,52799 52799 - (Phosphotyrosine protein) phosphatases II 52799 - (Phosphotyrosine protein) phosphatases II	0	Direct
57424,50494 57424 - LDL receptor-like module 50494 - Trypsin-like serine proteases	0	Direct
52518,52922 52518 - Thiamin diphosphate-binding fold (THDP-binding) 52922 - TK C-terminal domain-like	0	Direct
52096,52096 52096 - ClpP/crotonase 52096 - ClpP/crotonase	0	Direct
141072,141072 141072 - CalX-like 141072 - CalX-like	0	Direct
53474,49723 53474 - alpha/beta-Hydrolases 49723 - Lipase/lipooxygenase domain (PLAT/LH2 domain)	0	Direct
51230,47005 51230 - Single hybrid motif 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex	0	Direct
49265,48726 49265 - Fibronectin type III 48726 - Immunoglobulin	0	Direct
57424,49854 57424 - LDL receptor-like module 49854 - Spermadhesin, CUB domain	0	Direct
55486,82895 55486 - Metalloproteases ("zincins"), catalytic domain 82895 - TSP-1 type 1 repeat	0	Direct
53300,69179 53300 - vWA-like 69179 - Integrin domains	0	Direct
47005,52777 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases	0	Direct
63411,63411 63411 - LuxS/MPP-like metallohydrolase 63411 - LuxS/MPP-like metallohydrolase	0	Direct
47473,51695 47473 - EF-hand 51695 - PLC-like phosphodiesterases	0	Direct
52540,46785 52540 - P-loop containing nucleoside triphosphate hydrolases 46785 - "Winged helix" DNA-binding domain	0	Direct
56112,55073 56112 - Protein kinase-like (PK-like) 55073 - Nucleotide cyclase	0	Direct
50249,55681 50249 - Nucleic acid-binding proteins 55681 - Class II aaRS and biotin synthetases	0	Direct
50677,52374 50677 - ValRS/IleRS/LeuRS editing domain 52374 - Nucleotidylyl transferase	0	Direct
48334,52540 48334 - DNA repair protein MutS, domain III 52540 - P-loop containing nucleoside triphosphate hydrolases	0	Direct
81995,81811 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24	0	Direct
55681,52954 55681 - Class II aaRS and biotin synthetases 52954 - Class II aaRS ABD-related	0	Direct
50447,54980 50447 - Translation proteins 54980 - EF-G C-terminal domain-like	0	Direct

LINKTO: Supra-domain2BO Download and Supra-domain2BO Algorithm

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Supra-domain (Triple) in N- to C-terminal order

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Supra-domain (Triple) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
48726,49265,48726 48726 - Immunoglobulin 49265 - Fibronectin type III 48726 - Immunoglobulin	0	Direct
141072,141072,141072 141072 - CalX-like 141072 - CalX-like 141072 - CalX-like	0	Direct
57196,49899,49899 57196 - EGF/Laminin 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases	0	Direct
52540,50447,54980 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 54980 - EF-G C-terminal domain-like	0	Direct
81995,81811,82754 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24	0	Direct
55550,56112,56112 55550 - SH2 domain 56112 - Protein kinase-like (PK-like) 56112 - Protein kinase-like (PK-like)	0	Direct
49503,49503,49503 49503 - Cupredoxins 49503 - Cupredoxins 49503 - Cupredoxins	0	Direct
57196,57196,69687 57196 - EGF/Laminin 57196 - EGF/Laminin 69687 - Integrin beta tail domain	0	Direct
53300,81995,81811 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24	0	Direct
48726,49265,49265 48726 - Immunoglobulin 49265 - Fibronectin type III 49265 - Fibronectin type III	0	Direct
57440,57440,57440 57440 - Kringle-like 57440 - Kringle-like 57440 - Kringle-like	0	Direct
57424,57424,50494 57424 - LDL receptor-like module 57424 - LDL receptor-like module 50494 - Trypsin-like serine proteases	0	Direct
57184,49899,49899 57184 - Growth factor receptor domain 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases	0	Direct
50729,55550,56112 50729 - PH domain-like 55550 - SH2 domain 56112 - Protein kinase-like (PK-like)	0	Direct
49899,49899,57196 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin	0	Direct
49854,57424,57424 49854 - Spermadhesin, CUB domain 57424 - LDL receptor-like module 57424 - LDL receptor-like module	0	Direct
51230,47005,52777 51230 - Single hybrid motif 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases	0	Direct
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases	0	Direct
49899,57196,49899 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin 49899 - Concanavalin A-like lectins/glucanases	0	Direct
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	0	Direct
52440,56059,51246 52440 - PreATP-grasp domain 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif	0	Direct
47473,51695,49562 47473 - EF-hand 51695 - PLC-like phosphodiesterases 49562 - C2 domain (Calcium/lipid-binding domain, CaLB)	0	Direct