Phenotypic Abnormality (PA): Neurodevelopmental abnormality

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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)

+ + + 3: Phenotypic abnormality [HP:0000118] <25>

+ + 2: Abnormality of the nervous system [HP:0000707] <4> (142|168) (156|103|45)

+ 1: Abnormality of nervous system physiology [HP:0012638] <26> (101|119) (112|81|39)

0: Neurodevelopmental abnormality [HP:0012759] <5> (36|53) (39|26|12)

- 1: Intellectual disability [HP:0001249] <6> (11|11) (11|5|2)

- 1: Neurodevelopmental delay [HP:0012758] <4> (17|30) (18|10|2)

- 1: Specific learning disability [HP:0001328] <3> (1|3) (3|2|0)

- 1: Developmental stagnation [HP:0007281] <1> (0|0) (0|0|0)

- 1: Developmental regression [HP:0002376] (0|3) (0|1|0)

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

Superfamily

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SCOP term	FDR (all)	Annotation (direct or inherited)
C-terminal, gelsolin-like domain of Sec23/24	0	Direct
Hect, E3 ligase catalytic domain	0	Direct
Putative DNA-binding domain	0	Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain	0	Direct
L27 domain	0	Direct
Methylglyoxal synthase-like	0	Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	Direct
Acyl-CoA N-acyltransferases (Nat)	0	Direct
Lamin A/C globular tail domain	0	Direct
Arginase/deacetylase	0	Direct
ADC-like	0	Direct
Cytochrome b5-like heme/steroid binding domain	0	Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex	0	Direct
Restriction endonuclease-like	0	Direct
RuvA domain 2-like	0	Direct
Helical domain of Sec23/24	0	Direct
Pseudouridine synthase	0	Direct
L-aspartase-like	0	Direct
Glycerol-3-phosphate (1)-acyltransferase	0	Direct
NTF2-like	0	Direct
Proton glutamate symport protein	0	Direct
Ribonuclease PH domain 2-like	0	Direct
Zn-finger domain of Sec23/24	0	Direct
Multidrug efflux transporter AcrB transmembrane domain	0	Direct
PP2C-like	0	Direct
CCCH zinc finger	0	Direct
JAB1/MPN domain	0	Direct
BRK domain-like	0	Direct
S-adenosyl-L-methionine-dependent methyltransferases	0.04152	Inherited
GST C-terminal domain-like	0.04934	Inherited
SET domain	0.0509	Inherited
Bromodomain	0.0625	Inherited
Nucleotidylyl transferase	0.07406	Inherited
ARID-like	0.07701	Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases	0.1156	Inherited
RNA-binding domain, RBD	0.6003	Inherited

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Family

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SCOP term	FDR (all)	Annotation (direct or inherited)
CCCH zinc finger	0	Direct
Zn-finger domain of Sec23/24	0	Direct
Amylase, catalytic domain	0	Direct
Double-stranded RNA-binding domain (dsRBD)	0	Direct
Ferredoxin domains from multidomain proteins	0	Direct
Protein serine/threonine phosphatase	0	Direct
C-terminal, gelsolin-like domain of Sec23/24	0	Direct
Multidrug efflux transporter AcrB transmembrane domain	0	Direct
L27 domain	0	Direct
Helical domain of Sec23/24	0	Direct
N-acetyl transferase, NAT	0	Direct
alpha-Amylases, C-terminal beta-sheet domain	0	Direct
Lamin A/C globular tail domain	0	Direct
Glycosyl transferases group 1	0	Direct
Cytochrome b5	0	Direct
BRK domain-like	0	Direct
SWIRM domain	0	Direct
beta-glycanases	0	Direct
Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A	0	Direct
PP2C-like	0	Direct
CUT domain	0	Direct
Proton glutamate symport protein	0	Direct
XPF/Rad1/Mus81 nuclease	0	Direct
Branched-chain alpha-keto acid dehydrogenase PP module	0	Direct
Histone deacetylase, HDAC	0	Direct
Hect, E3 ligase catalytic domain	0	Direct
L-aspartase/fumarase	0	Direct
Ribonuclease PH domain 1-like	0	Direct
Exostosin	0	Direct
Histone lysine methyltransferases	0	Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain	0	Direct
Ribonuclease PH domain 2-like	0	Direct
beta-sandwich domain of Sec23/24	0	Direct
Trunk domain of Sec23/24	0	Direct
Anticodon-binding domain	0	Direct
PWWP domain	0	Direct
JAB1/MPN domain	0	Direct
IF2B-like	0	Direct
Extended AAA-ATPase domain	0.0004646	Direct
PHD domain	0.009319	Inherited
HMG-box	0.01543	Inherited
Bromodomain	0.04085	Inherited
ARID domain	0.0551	Inherited
Class I aminoacyl-tRNA synthetases (RS), catalytic domain	0.08626	Inherited
DNA gyrase/MutL, second domain	0.0902	Inherited
DNA gyrase/MutL, N-terminal domain	0.0902	Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases	0.1034	Inherited
L-arabinose binding protein-like	0.1194	Inherited
Phosphate binding protein-like	0.1297	Inherited
Neurotransmitter-gated ion-channel transmembrane pore	0.4874	Inherited
Nicotinic receptor ligand binding domain-like	0.4874	Inherited
Canonical RBD	0.681	Inherited

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Supra-domain (including individual superfamily)

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Supra-domain (Single)	FDR (all)	Annotation (direct or inherited)
Acyl-CoA N-acyltransferases (Nat)	0	Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain	0	Direct
BRK domain-like	0	Direct
Multidrug efflux transporter AcrB transmembrane domain	0	Direct
Cytochrome b5-like heme/steroid binding domain	0	Direct
Pseudouridine synthase	0	Direct
Restriction endonuclease-like	0	Direct
RuvA domain 2-like	0	Direct
Proton glutamate symport protein	0	Direct
L-aspartase-like	0	Direct
Putative DNA-binding domain	0	Direct
Helical domain of Sec23/24	0	Direct
PP2C-like	0	Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex	0	Direct
JAB1/MPN domain	0	Direct
Hect, E3 ligase catalytic domain	0	Direct
Arginase/deacetylase	0	Direct
Lamin A/C globular tail domain	0	Direct
Zn-finger domain of Sec23/24	0	Direct
L27 domain	0	Direct
Ribonuclease PH domain 2-like	0	Direct
C-terminal, gelsolin-like domain of Sec23/24	0	Direct
Methylglyoxal synthase-like	0	Direct
Glycerol-3-phosphate (1)-acyltransferase	0	Direct
ADC-like	0	Direct
CCCH zinc finger	0	Direct
NTF2-like	0	Direct
HMG-box	0.01899	Inherited
S-adenosyl-L-methionine-dependent methyltransferases	0.02993	Inherited
GST C-terminal domain-like	0.0363	Inherited
SET domain	0.03758	Inherited
Bromodomain	0.04711	Inherited
Nucleotidylyl transferase	0.05667	Inherited
ARID-like	0.05916	Inherited
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases	0.09164	Inherited
Nicotinic receptor ligand binding domain-like	0.5231	Inherited
Neurotransmitter-gated ion-channel transmembrane pore	0.5231	Inherited
RNA-binding domain, RBD	0.5576	Inherited

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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
54160,52540 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases	0	Direct
81811,82754 81811 - Helical domain of Sec23/24 82754 - C-terminal, gelsolin-like domain of Sec23/24	0	Direct
50249,55681 50249 - Nucleic acid-binding proteins 55681 - Class II aaRS and biotin synthetases	0	Direct
52980,47781 52980 - Restriction endonuclease-like 47781 - RuvA domain 2-like	0	Direct
82919,53300 82919 - Zn-finger domain of Sec23/24 53300 - vWA-like	0	Direct
47005,52777 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases	0	Direct
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger	0	Direct
57889,48350 57889 - Cysteine-rich domain 48350 - GTPase activation domain, GAP	0	Direct
50447,54980 50447 - Translation proteins 54980 - EF-G C-terminal domain-like	0	Direct
52096,52096 52096 - ClpP/crotonase 52096 - ClpP/crotonase	0	Direct
81995,81811 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24	0	Direct
141072,141072 141072 - CalX-like 141072 - CalX-like	0	Direct
50447,50465 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	Direct
51230,47005 51230 - Single hybrid motif 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex	0	Direct
53300,81995 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24	0	Direct
54211,55666 54211 - Ribosomal protein S5 domain 2-like 55666 - Ribonuclease PH domain 2-like	0	Direct
52518,52518 52518 - Thiamin diphosphate-binding fold (THDP-binding) 52518 - Thiamin diphosphate-binding fold (THDP-binding)	0	Direct
54768,54768 54768 - dsRNA-binding domain-like 54768 - dsRNA-binding domain-like	0	Direct
51905,55424 51905 - FAD/NAD(P)-binding domain 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain	0	Direct
53822,53850 53822 - Periplasmic binding protein-like I 53850 - Periplasmic binding protein-like II	0	Direct
47473,103506 47473 - EF-hand 103506 - Mitochondrial carrier	0	Direct
52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases	0.0001038	Direct
55874,54211 55874 - ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase 54211 - Ribosomal protein S5 domain 2-like	0.09528	Inherited
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore	0.5231	Inherited
54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD	0.8562	Inherited

(show details)

Supra-domain (Triple) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
57196,57581,57196 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57196 - EGF/Laminin	0	Direct
53300,81995,81811 53300 - vWA-like 81995 - beta-sandwich domain of Sec23/24 81811 - Helical domain of Sec23/24	0	Direct
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain	0	Direct
49899,57196,49899 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin 49899 - Concanavalin A-like lectins/glucanases	0	Direct
141072,141072,141072 141072 - CalX-like 141072 - CalX-like 141072 - CalX-like	0	Direct
52540,50447,50465 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	Direct
54160,54160,52540 54160 - Chromo domain-like 54160 - Chromo domain-like 52540 - P-loop containing nucleoside triphosphate hydrolases	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
57196,57581,57184 57196 - EGF/Laminin 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain	0	Direct
52540,50447,54980 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 54980 - EF-G C-terminal domain-like	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
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

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Phenotypic Abnormality (PA): Neurodevelopmental abnormality

Superfamily

Family

Supra-domain (including individual superfamily)