Phenotypic Abnormality (PA): Abnormality of limb bone morphology

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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 skeletal morphology [HP:0011842] <17> (86|89) (90|52|33)

+ + 2: Abnormality of the skeletal system [HP:0000924] <7> (88|98) (93|55|34)

+ + 2: Abnormality of limbs [HP:0040064] <8> (58|66) (63|33|25)

+ 1: Abnormality of limb bone [HP:0040068] <1> (29|32) (33|18|20)

+ 1: Abnormal appendicular skeleton morphology [HP:0011844] <4> (35|43) (39|23|23)

0: Abnormality of limb bone morphology [HP:0002813] <13> (29|32) (32|18|20)

- 1: Abnormality of the metaphysis [HP:0000944] <19> (2|5) (2|1|0)

- 1: Abnormal digit morphology [HP:0011297] <10> (16|21) (18|14|16)

- 1: Abnormal lower limb bone morphology [HP:0040069] <10> (11|9) (12|5|6)

- 1: Anomaly of the limb diaphyses [HP:0006504] <6> (0|1) (0|0|0)

- 1: Abnormal upper limb bone morphology [HP:0040070] <5> (5|4) (6|2|1)

- 1: Aplasia/hypoplasia involving bones of the extremities [HP:0045060] <3> (7|9) (9|3|5)

- 1: Abnormality of limb epiphysis morphology [HP:0006505] <2> (2|1) (2|0|0)

- 1: Ectrodactyly [HP:0100257] <2> (0|0) (0|0|0)

- 1: Abnormality of radial ray [HP:0410049] (0|0) (0|0|0)

- 1: Absent ray [HP:0030030] (0|0) (0|0|0)

- 1: Acromicria [HP:0031878] (0|0) (0|0|0)

- 1: Limb duplication [HP:0100524] (0|0) (0|0|0)

- 1: Subperiosteal bone resorption [HP:0003106] (0|0) (0|0|0)

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Superfamily

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SCOP term	FDR (all)	Annotation (direct or inherited)
Notch domain	0	Direct
TB module/8-cys domain	0	Direct
CalX-like	0	Direct
RuvA domain 2-like	0	Direct
WD40 repeat-like	0.001461	Inherited
SET domain	0.00331	Inherited
Arginase/deacetylase	0.04332	Inherited
Restriction endonuclease-like	0.04332	Inherited
Insulin-like	0.04332	Inherited
BRK domain-like	0.04332	Inherited
Histone-fold	0.05256	Inherited
ARID-like	0.05256	Inherited
Hemopexin-like domain	0.09152	Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)	0.1	Inherited
Multidrug efflux transporter AcrB transmembrane domain	0.1053	Inherited
GroEL equatorial domain-like	0.1053	Inherited
PGBD-like	0.1585	Inherited
Metalloproteases ("zincins"), catalytic domain	0.1655	Inherited
HMG-box	0.2852	Inherited
p53-like transcription factors	0.2971	Inherited
Concanavalin A-like lectins/glucanases	0.4057	Inherited
vWA-like	0.5413	Inherited
Cystine-knot cytokines	0.5413	Inherited
FnI-like domain	0.6242	Inherited
Hect, E3 ligase catalytic domain	0.6557	Inherited
Immunoglobulin	0.7777	Inherited
HLH, helix-loop-helix DNA-binding domain	0.8101	Inherited
Voltage-gated potassium channels	0.9367	Inherited
Class II aaRS and biotin synthetases	0.9732	Inherited

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Family

(show details)

SCOP term	FDR (all)	Annotation (direct or inherited)
CalX-beta domain	0	Direct
Proteasome subunits	0	Direct
Notch domain	0	Direct
XPF/Rad1/Mus81 nuclease	0	Direct
Histone deacetylase, HDAC	0	Direct
Exostosin	0	Direct
TB module/8-cys domain	0	Direct
Actin/HSP70	0.0001822	Direct
Erythroid transcription factor GATA-1	0.001559	Inherited
PHD domain	0.00468	Inherited
VWC domain	0.01625	Inherited
ZZ domain	0.02999	Inherited
BRK domain-like	0.02999	Inherited
Insulin-like	0.02999	Inherited
ARID domain	0.03685	Inherited
Classic zinc finger, C2H2	0.04846	Inherited
Integrin A (or I) domain	0.05523	Inherited
Hemopexin-like domain	0.06751	Inherited
Fibronectin type II module	0.08015	Inherited
Matrix metalloproteases, catalytic domain	0.1235	Inherited
MMP N-terminal domain	0.1235	Inherited
HMG-box	0.23	Inherited
Homeodomain	0.4263	Inherited
Tetratricopeptide repeat (TPR)	0.4671	Inherited
Growth factor receptor domain	0.4671	Inherited
I set domains	0.4922	Inherited
Transforming growth factor (TGF)-beta	0.4948	Inherited
TSP-1 type 1 repeat	0.5558	Inherited
Hect, E3 ligase catalytic domain	0.5901	Inherited
RecA protein-like (ATPase-domain)	0.7493	Inherited
HLH, helix-loop-helix DNA-binding domain	0.7496	Inherited
Class II aminoacyl-tRNA synthetase (aaRS)-like, catalytic domain	0.8983	Inherited

Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term

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Supra-domain (including individual superfamily)

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Supra-domain (Single)	FDR (all)	Annotation (direct or inherited)
CalX-like	0	Direct
Notch domain	0	Direct
RuvA domain 2-like	0	Direct
TB module/8-cys domain	0	Direct
WD40 repeat-like	0.0007974	Direct
SET domain	0.001937	Inherited
BRK domain-like	0.03137	Inherited
Insulin-like	0.03137	Inherited
Restriction endonuclease-like	0.03137	Inherited
Arginase/deacetylase	0.03137	Inherited
Histone-fold	0.03892	Inherited
ARID-like	0.03892	Inherited
Hemopexin-like domain	0.07131	Inherited
N-terminal nucleophile aminohydrolases (Ntn hydrolases)	0.07858	Inherited
Multidrug efflux transporter AcrB transmembrane domain	0.08302	Inherited
GroEL equatorial domain-like	0.08302	Inherited
PGBD-like	0.1297	Inherited
Metalloproteases ("zincins"), catalytic domain	0.1359	Inherited
HMG-box	0.2464	Inherited
p53-like transcription factors	0.2573	Inherited
TPR-like	0.3436	Inherited
Concanavalin A-like lectins/glucanases	0.3623	Inherited
Nucleotide-diphospho-sugar transferases	0.425	Inherited
vWA-like	0.4973	Inherited
Cystine-knot cytokines	0.4973	Inherited
Cysteine proteinases	0.5221	Inherited
FnI-like domain	0.5827	Inherited
Hect, E3 ligase catalytic domain	0.615	Inherited
Immunoglobulin	0.7412	Inherited
HLH, helix-loop-helix DNA-binding domain	0.7754	Inherited
Voltage-gated potassium channels	0.9101	Inherited
Class II aaRS and biotin synthetases	0.9499	Inherited

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Supra-domain (Duplex) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
57581,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin	0	Direct
52980,47781 52980 - Restriction endonuclease-like 47781 - RuvA domain 2-like	0	Direct
57196,57581 57196 - EGF/Laminin 57581 - TB module/8-cys domain	0	Direct
57196,90193 57196 - EGF/Laminin 90193 - Notch domain	0	Direct
141072,141072 141072 - CalX-like 141072 - CalX-like	0	Direct
57184,57581 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain	0	Direct
57581,57184 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain	0	Direct
57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain	0.001588	Inherited
57196,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain	0.001835	Inherited
103575,48726 103575 - Plexin repeat 48726 - Immunoglobulin	0.03137	Inherited
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger	0.03892	Inherited
81296,81296 81296 - E set domains 81296 - E set domains	0.03892	Inherited
50729,50729 50729 - PH domain-like 50729 - PH domain-like	0.07858	Inherited
53300,53300 53300 - vWA-like 53300 - vWA-like	0.08302	Inherited
47090,55486 47090 - PGBD-like 55486 - Metalloproteases ("zincins"), catalytic domain	0.1297	Inherited
57667,57667 57667 - beta-beta-alpha zinc fingers 57667 - beta-beta-alpha zinc fingers	0.2795	Inherited
48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin	0.3938	Inherited
48452,48452 48452 - TPR-like 48452 - TPR-like	0.615	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
57184,57581,57196 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain 57196 - EGF/Laminin	0	Direct
57196,57196,57581 57196 - EGF/Laminin 57196 - EGF/Laminin 57581 - TB module/8-cys domain	0	Direct
57184,57184,57196 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57196 - EGF/Laminin	0	Direct
141072,141072,141072 141072 - CalX-like 141072 - CalX-like 141072 - CalX-like	0	Direct
57196,57184,57184 57196 - EGF/Laminin 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain	0	Direct
57184,57184,57184 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain	0	Direct
57581,57196,57581 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57581 - TB module/8-cys domain	0	Direct
57184,57184,57581 57184 - Growth factor receptor domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain	0	Direct
57581,57196,57196 57581 - TB module/8-cys domain 57196 - EGF/Laminin 57196 - EGF/Laminin	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
57196,57581,57184 57196 - EGF/Laminin 57581 - TB module/8-cys domain 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
57581,57184,57581 57581 - TB module/8-cys domain 57184 - Growth factor receptor domain 57581 - TB module/8-cys domain	0	Direct
57196,57196,57184 57196 - EGF/Laminin 57196 - EGF/Laminin 57184 - Growth factor receptor domain	0.0004399	Direct
101912,103575,48726 101912 - Sema domain 103575 - Plexin repeat 48726 - Immunoglobulin	0.03137	Inherited
81296,81296,81296 81296 - E set domains 81296 - E set domains 81296 - E set domains	0.03892	Inherited
48726,48726,48726 48726 - Immunoglobulin 48726 - Immunoglobulin 48726 - Immunoglobulin	0.07262	Inherited
52540,52540,52540 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases 52540 - P-loop containing nucleoside triphosphate hydrolases	0.1297	Inherited

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Phenotypic Abnormality (PA): Abnormality of limb bone morphology

Superfamily

Family

Supra-domain (including individual superfamily)