Mode of Inheritance (MI): Autosomal dominant inheritance

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Phenotype Ontology
Like Gene Ontology (GO), phenotypy 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. Phenotype ontologies we have incorporated are as follows:

Disease Ontology (DO) Ontology (DO)
DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI thesaurus, SNOMED and OMIM.
Human Phenotype (HP) Ontology (HP)
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)
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)
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 (YP)
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)
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)
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)
ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
Xenopus Anatomy (XA) Ontology (XA)
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 (AP)
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 (EC)
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.
DrugBank ATC (DB) Ontology (DB)
In the Anatomical Therapeutic Chemical (ATC) classification system, drugs are classified in groups at five different levels according to the organ or system (1st level, anatomical main group) on which they act and their therapeutic (2nd level, therapeutic subgroup), pharmacological (3rd level, pharmacological subgroup) and chemical properties (4th level, chemical subgroup; 5th level, chemical substance). Only drugs in DrugBank are considered.
UniProtKB KeyWords (KW) Ontology (KW)
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).
UniProtKB UniPathway (UP) Ontology (UP)
UP is a fully manually curated resource for the representation and annotation of metabolic pathways, being used as controlled vocabulary for pathway annotation in UniProtKB.

Structural Domain Phenotype Ontology and its Annotations
Structural Classification of Proteins (SCOP) classifies evolutionary-related domains into Superfamily level and Family level. Using the phenotype ontologies above, we have generated the domain-centric phenotype annotations, and further identified those phenotype terms which are the most informative to annotate SCOP domains. Promisingly, domain-centric phenotypic annotations can serve as an alternative starting point to explore genotype-phenotype relationships. We provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.

Structural Domain Disease Ontology (DO) Ontology (SDDO) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DO.txt, and the corresponding ontology:SDDO.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Human Phenotype (HP) Ontology (SDHP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2HP.txt, and the corresponding ontology:SDHP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Mouse Phenotype (MP) Ontology (SDMP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2MP.txt, and the corresponding ontology:SDMP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Worm Phenotype (WP) Ontology (SDWP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2WP.txt, and the corresponding ontology:SDWP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Yeast Phenotype (YP) Ontology (SDYP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2YP.txt, and the corresponding ontology:SDYP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Fly Phenotype (FP) Ontology (SDFP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FP.txt, and the corresponding ontology:SDFP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Fly Anatomy (FA) Ontology (SDFA) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FA.txt, and the corresponding ontology:SDFA.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Zebrafish Anatomy (ZA) Ontology (SDZA) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2ZA.txt, and the corresponding ontology:SDZA.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Xenopus Anatomy (XA) Ontology (SDXA) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2XA.txt, and the corresponding ontology:SDXA.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Arabidopsis Plant Ontology (AP) Ontology (SDAP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2AP.txt, and the corresponding ontology:SDAP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Enzyme Commission (EC) Ontology (SDEC) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2EC.txt, and the corresponding ontology:SDEC.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain DrugBank ATC (DB) Ontology (SDDB) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DB.txt, and the corresponding ontology:SDDB.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain UniProtKB KeyWords (KW) Ontology (SDKW) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2KW.txt, and the corresponding ontology:SDKW.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain UniProtKB UniPathway (UP) Ontology (SDUP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2UP.txt, and the corresponding ontology:SDUP.txt) and mysql tables (Domain2PO.sql.gz).

Supra-domain Phenotype Ontology and its Annotations
Although domain-centric annotations hold great promise in describing phenotypic nature of independent domains, most domains themselves may not just work alone. In multi-domain proteins, they may be combined together to form distinct domain architectures. The recombination of the existing domains is considered as one of major driving forces for phenotypic diversificaation. As an extension, we have also generated supra-domain phenotype ontology and its annotations. Compared to domain-centric phenotype ontology and annotations (SCOP domains at the Superfamily level and Family level), this version focuses on supra-domains and individual SCOP domains ONLY at the Superfamily level. Besides, in terms of individual superfamilies, their annotations from the domain-centric version may be different from those from supra-domains version. Depending on your focus, the former should be used for the consideration of both the Superfamily level and Family level, otherwise the latter should be used if you are interested in domain combinations. Also, we provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.

Supra-domain Domain Disease Ontology (DO) Ontology (SPDO) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DO.txt, and the corresponding ontology:SPDO.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Human Phenotype (HP) Ontology (SPHO) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2HP.txt, and the corresponding ontology:SPHO.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Mouse Phenotype (MP) Ontology (SPMP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2MP.txt, and the corresponding ontology:SPMP.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Worm Phenotype (WP) Ontology (SPWP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2WP.txt, and the corresponding ontology:SPWP.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Yeast Phenotype (YP) Ontology (SPYP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2YP.txt, and the corresponding ontology:SPYP.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Fly Phenotype (FP) Ontology (SPFP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FP.txt, and the corresponding ontology:SPFP.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Fly Anatomy (FA) Ontology (SPFA) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FA.txt, and the corresponding ontology:SPFA.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Zebrafish Anatomy (ZA) Ontology (SPZA) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2ZA.txt, and the corresponding ontology:SPZA.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Xenopus Anatomy (XA) Ontology (SPXA) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2XA.txt, and the corresponding ontology:SPXA.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Arabidopsis Plant Ontology (AP) Ontology (SPAP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2AP.txt, and the corresponding ontology:SPAP.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Enzyme Commission (EC) Ontology (SPEC) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2EC.txt, and the corresponding ontology:SPEC.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain DrugBank ATC (DB) Ontology (SPDB) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DB.txt, and the corresponding ontology:SPDB.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain UniProtKB KeyWords (KW) Ontology (SPKW) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2KW.txt, and the corresponding ontology:SPKW.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain UniProtKB UniPathway (UP) Ontology (SPUP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2UP.txt, and the corresponding ontology:SPUP.txt) and mysql tables (SP2PO.sql.gz).

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

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: Mode of inheritance [HP:0000005] <12>

0: Autosomal dominant inheritance [HP:0000006] <6> (25|32) (27|26|14)

- 1: Sex-limited autosomal dominant [HP:0001470] <1> (0|0) (0|0|0)

- 1: Autosomal dominant contiguous gene syndrome [HP:0001452] (0|0) (0|0|0)

- 1: Autosomal dominant germline de novo mutation [HP:0025352] (0|0) (0|0|0)

- 1: Autosomal dominant inheritance with maternal imprinting [HP:0012275] (0|0) (0|0|0)

- 1: Autosomal dominant inheritance with paternal imprinting [HP:0012274] (0|0) (0|0|0)

- 1: Autosomal dominant somatic cell mutation [HP:0001444] (0|0) (0|0|0)

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

Superfamily

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SCOP term	FDR (all)	Annotation (direct or inherited)
Translation proteins SH3-like domain	0	Direct
Sm-like ribonucleoproteins	0	Direct
Myosin rod fragments	0	Direct
Globin-like	0	Direct
Tropomyosin	0	Direct
HSP20-like chaperones	0	Direct
Lamin A/C globular tail domain	0	Direct
Connexin43	0	Direct
Hormone receptor domain	0	Direct
Sema domain	0	Direct
gamma-Crystallin-like	0	Direct
A DNA-binding domain in eukaryotic transcription factors	0	Direct
NTF2-like	0	Direct
Apolipoprotein A-I	0	Direct
Aquaporin-like	0	Direct
BRK domain-like	0	Direct
Intermediate filament protein, coiled coil region	0.00000000002034	Direct
Voltage-gated potassium channels	0.00000002421	Direct
Homeodomain-like	0.00001132	Direct
Tubulin nucleotide-binding domain-like	0.0000589	Direct
Tubulin C-terminal domain-like	0.0001246	Direct
Neurotransmitter-gated ion-channel transmembrane pore	0.000232	Direct
Nicotinic receptor ligand binding domain-like	0.000232	Direct
Protein kinase-like (PK-like)	0.0003038	Direct
Glucocorticoid receptor-like (DNA-binding domain)	0.0007206	Direct

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Family

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SCOP term	FDR (all)	Annotation (direct or inherited)
HkH motif-containing C2H2 finger	0	Direct
Sema domain	0	Direct
Protein serine/threonine phosphatase	0	Direct
Globins	0	Direct
DNA gyrase/MutL, second domain	0	Direct
Lamin A/C globular tail domain	0	Direct
Apolipoprotein A-I	0	Direct
p120GAP domain-like	0	Direct
Crystallins/Ca-binding development proteins	0	Direct
BRK domain-like	0	Direct
Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A	0	Direct
Myosin rod fragments	0	Direct
Aquaporin-like	0	Direct
A DNA-binding domain in eukaryotic transcription factors	0	Direct
Tropomyosin	0	Direct
ets domain	0	Direct
CUT domain	0	Direct
Histone lysine methyltransferases	0	Direct
Hormone receptor domain	0	Direct
DIX domain	0	Direct
Connexin43	0	Direct
DEP domain	0	Direct
DNA gyrase/MutL, N-terminal domain	0	Direct
L domain	0	Direct
Intermediate filament protein, coiled coil region	0.00000000005308	Direct
Voltage-gated potassium channels	0.00002841	Direct
Tubulin, GTPase domain	0.00007487	Direct
Tubulin, C-terminal domain	0.0001565	Direct
Neurotransmitter-gated ion-channel transmembrane pore	0.000314	Direct
Nicotinic receptor ligand binding domain-like	0.000314	Direct
Protein kinases, catalytic subunit	0.000375	Direct
Homeodomain	0.0005196	Direct

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)
Sm-like ribonucleoproteins	0	Direct
BRK domain-like	0	Direct
Connexin43	0	Direct
A DNA-binding domain in eukaryotic transcription factors	0	Direct
Myosin rod fragments	0	Direct
Apolipoprotein A-I	0	Direct
Tropomyosin	0	Direct
Sema domain	0	Direct
Translation proteins SH3-like domain	0	Direct
gamma-Crystallin-like	0	Direct
Lamin A/C globular tail domain	0	Direct
Aquaporin-like	0	Direct
Hormone receptor domain	0	Direct
HSP20-like chaperones	0	Direct
Globin-like	0	Direct
NTF2-like	0	Direct
Intermediate filament protein, coiled coil region	0.00000000001416	Direct
Voltage-gated potassium channels	0.00000001698	Direct
Homeodomain-like	0.000008064	Direct
Tubulin nucleotide-binding domain-like	0.00004229	Direct
Tubulin C-terminal domain-like	0.00009061	Direct
Nicotinic receptor ligand binding domain-like	0.0001753	Direct
Neurotransmitter-gated ion-channel transmembrane pore	0.0001753	Direct
Protein kinase-like (PK-like)	0.00023	Direct
Glucocorticoid receptor-like (DNA-binding domain)	0.0005645	Direct
SET domain	0.0008564	Direct
HMG-box	0.0008689	Direct

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Supra-domain (Duplex) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
54160,54160 54160 - Chromo domain-like 54160 - Chromo domain-like	0	Direct
57184,52058 57184 - Growth factor receptor domain 52058 - L domain-like	0	Direct
52058,52058 52058 - L domain-like 52058 - L domain-like	0	Direct
101912,103575 101912 - Sema domain 103575 - Plexin repeat	0	Direct
54160,52540 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases	0	Direct
46689,57667 46689 - Homeodomain-like 57667 - beta-beta-alpha zinc fingers	0	Direct
46966,47473 46966 - Spectrin repeat 47473 - EF-hand	0	Direct
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger	0	Direct
53300,53300 53300 - vWA-like 53300 - vWA-like	0	Direct
52058,57184 52058 - L domain-like 57184 - Growth factor receptor domain	0	Direct
90257,90257 90257 - Myosin rod fragments 90257 - Myosin rod fragments	0	Direct
64593,64593 64593 - Intermediate filament protein, coiled coil region 64593 - Intermediate filament protein, coiled coil region	0	Direct
47454,57959 47454 - A DNA-binding domain in eukaryotic transcription factors 57959 - Leucine zipper domain	0	Direct
57196,90193 57196 - EGF/Laminin 90193 - Notch domain	0	Direct
50729,56112 50729 - PH domain-like 56112 - Protein kinase-like (PK-like)	0	Direct
49265,48726 49265 - Fibronectin type III 48726 - Immunoglobulin	0	Direct
55874,54211 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase 54211 - Ribosomal protein S5 domain 2-like	0	Direct
53822,53850 53822 - Periplasmic binding protein-like I 53850 - Periplasmic binding protein-like II	0	Direct
46579,64593 46579 - Prefoldin 64593 - Intermediate filament protein, coiled coil region	0	Direct
57581,57184 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain	0	Direct
52540,90123 52540 - P-loop containing nucleoside triphosphate hydrolases 90123 - ABC transporter transmembrane region	0	Direct
81324,81324 81324 - Voltage-gated potassium channels 81324 - Voltage-gated potassium channels	0	Direct
56112,55073 56112 - Protein kinase-like (PK-like) 55073 - Nucleotide cyclase	0	Direct
52490,55307 52490 - Tubulin nucleotide-binding domain-like 55307 - Tubulin C-terminal domain-like	0.00009061	Direct
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore	0.0001753	Direct
57667,57667 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers	0.0005317	Direct

(show details)

Supra-domain (Triple) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
90257,90257,90257 90257 - Myosin rod fragments 90257 - Myosin rod fragments 90257 - Myosin rod fragments	0	Direct
48726,49265,48726 48726 - Immunoglobulin 49265 - Fibronectin type III 48726 - Immunoglobulin	0	Direct
54160,54160,52540 54160 - Chromo domain-like 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases	0	Direct
52540,90123,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 90123 - ABC transporter transmembrane region 52540 - P-loop containing nucleoside triphosphate hydrolases	0	Direct
63825,57196,63825 63825 - YWTD domain 57196 - EGF/Laminin 63825 - YWTD domain	0	Direct
52058,57184,52058 52058 - L domain-like 57184 - Growth factor receptor domain 52058 - L domain-like	0	Direct
46966,46966,47473 46966 - Spectrin repeat 46966 - Spectrin repeat 47473 - EF-hand	0	Direct
57196,57196,90193 57196 - EGF/Laminin 57196 - EGF/Laminin 90193 - Notch domain	0	Direct
57184,57581,57184 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain	0	Direct
57184,52058,57184 57184 - Growth factor receptor domain 52058 - L domain-like 57184 - Growth factor receptor domain	0	Direct
57184,57196,57184 57184 - Growth factor receptor domain 57196 - EGF/Laminin 57184 - Growth factor receptor domain	0	Direct
54160,52540,52540 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases	0	Direct
57581,57184,57581 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain	0	Direct
90123,52540,90123 90123 - ABC transporter transmembrane region 52540 - P-loop containing nucleoside triphosphate hydrolases 90123 - ABC transporter transmembrane region	0	Direct

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Mode of Inheritance (MI): Autosomal dominant inheritance

Superfamily

Family

Supra-domain (including individual superfamily)