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CalX-beta domain family

Root:   SCOP hierarchy in SUPERFAMILY [ 0] (11)
Class:   All beta proteins [ 48724] (174)
Fold:   Immunoglobulin-like beta-sandwich [ 48725] (28)
Superfamily:   CalX-like [ 141072]
Family:   CalX-beta domain [ 141073]

HP

Human Phenotype (HP)

HP term FDR (all) SDHP (four levels) Annotation (direct or inherited)
Mode of Inheritance (MI)Autosomal recessive inheritance0--Direct
 
HP term FDR (all) SDHP (four levels) Annotation (direct or inherited)
Phenotypic Abnormality (PA)Abnormality of head or neck0--Direct
Phenotypic Abnormality (PA)Abnormality of the mouth0--Direct
Phenotypic Abnormality (PA)Abnormality of the head0--Direct
Phenotypic Abnormality (PA)Abnormality of the nervous system0--Direct
Phenotypic Abnormality (PA)Abnormality of the skeletal system0--Direct
Phenotypic Abnormality (PA)Abnormality of the foot0--Direct
Phenotypic Abnormality (PA)Abnormal appendicular skeleton morphology0--Direct
Phenotypic Abnormality (PA)Abnormal oral morphology0--Direct
Phenotypic Abnormality (PA)Abnormality of limb bone0--Direct
Phenotypic Abnormality (PA)Cryptophthalmos0.0000000008287--Direct
Phenotypic Abnormality (PA)Anal stenosis0.0000004744--Direct
Phenotypic Abnormality (PA)Ectopic anus0.0000007368--Direct
Phenotypic Abnormality (PA)Anophthalmia0.000001383--Direct
Phenotypic Abnormality (PA)Omphalocele0.000003191--Direct
Phenotypic Abnormality (PA)Abnormal vagina morphology0.00001749--Direct
Phenotypic Abnormality (PA)Aplasia/Hypoplasia of the eyelid0.00004458--Direct
Phenotypic Abnormality (PA)Abnormal nasolacrimal system morphology0.00008041--Direct
Phenotypic Abnormality (PA)Microphthalmia0.0002506--Direct
Phenotypic Abnormality (PA)Abdominal wall defect0.002317--Inherited
Phenotypic Abnormality (PA)Abnormal eyelid morphology0.004603--Inherited
Phenotypic Abnormality (PA)Morphological abnormality of the gastrointestinal tract0.005091--Inherited
Phenotypic Abnormality (PA)Abnormality of female internal genitalia0.006379--Inherited
Phenotypic Abnormality (PA)Abnormality of the abdominal wall0.007098--Inherited
Phenotypic Abnormality (PA)Abnormality of the ocular adnexa0.008842--Inherited
Phenotypic Abnormality (PA)Abnormality of the genital system0.01442--Inherited
Phenotypic Abnormality (PA)Abnormal nasal morphology0.02385--Inherited
Phenotypic Abnormality (PA)Abnormal eye morphology0.06149--Inherited
Phenotypic Abnormality (PA)Abnormality of the orbital region0.08636--Inherited
Phenotypic Abnormality (PA)Abnormal internal genitalia0.1232--Inherited
Phenotypic Abnormality (PA)Abnormality of the female genitalia0.1285--Inherited
Phenotypic Abnormality (PA)Abnormality of the face0Least InformativeDirect
Phenotypic Abnormality (PA)Abnormality of skeletal morphology0Least InformativeDirect
Phenotypic Abnormality (PA)Abnormality of limbs0Least InformativeDirect
Phenotypic Abnormality (PA)Abnormality of the genitourinary system0.08465Least InformativeInherited
Phenotypic Abnormality (PA)Abnormality of the digestive system0.1199Least InformativeInherited
Phenotypic Abnormality (PA)Abnormality of the eye0.147Least InformativeInherited
Phenotypic Abnormality (PA)Abnormality of limb bone morphology0Moderately InformativeDirect
Phenotypic Abnormality (PA)Abnormality of the lower limb0Moderately InformativeDirect
Phenotypic Abnormality (PA)Abnormality of connective tissue0Moderately InformativeDirect
Phenotypic Abnormality (PA)Abnormality of digestive system morphology0.005091Moderately InformativeInherited
Phenotypic Abnormality (PA)Abnormal ocular adnexa morphology0.008288Moderately InformativeInherited
Phenotypic Abnormality (PA)Abnormal reproductive system morphology0.009577Moderately InformativeInherited
Phenotypic Abnormality (PA)Abnormality of the gastrointestinal tract0.01614Moderately InformativeInherited
Phenotypic Abnormality (PA)Anorectal anomaly0.01716InformativeInherited
Phenotypic Abnormality (PA)Hernia0.1408InformativeInherited
Phenotypic Abnormality (PA)Abnormality of the nose0.4104InformativeInherited
Phenotypic Abnormality (PA)Midline defect of the nose0.00000002663Highly InformativeDirect
Phenotypic Abnormality (PA)Abnormal lacrimal duct morphology0.0000001984Highly InformativeDirect
Phenotypic Abnormality (PA)Abnormality of the anus0.0001085Highly InformativeDirect
Phenotypic Abnormality (PA)Abnormality of globe size0.00171Highly InformativeInherited
Phenotypic Abnormality (PA)Hernia of the abdominal wall0.002258Highly InformativeInherited
Phenotypic Abnormality (PA)Aplasia/Hypoplasia affecting the eye0.007288Highly InformativeInherited

LINKTO: Domain2BO Download and Domain2BO Algorithm

MP

Mouse Phenotype (MP)

MP term FDR (all) SDMP (four levels) Annotation (direct or inherited)
Mammalian Phenotype (MP)cryptophthalmos0.0000000007799--Direct
Mammalian Phenotype (MP)absent eyelids0.00000007278--Direct
Mammalian Phenotype (MP)bleb0.000003672--Direct
Mammalian Phenotype (MP)absent kidney0.00000547--Direct
Mammalian Phenotype (MP)polydactyly0.00004986--Direct
Mammalian Phenotype (MP)syndactyly0.00005363--Direct
Mammalian Phenotype (MP)craniofacial phenotype0.0009039--Direct
Mammalian Phenotype (MP)abnormal digit morphology0.0009234--Direct
Mammalian Phenotype (MP)vision/eye phenotype0.003969--Inherited
Mammalian Phenotype (MP)abnormal eye size0.004223--Inherited
Mammalian Phenotype (MP)renal/urinary system phenotype0.00983--Inherited
Mammalian Phenotype (MP)abnormal limb morphology0.0158--Inherited
Mammalian Phenotype (MP)integument phenotype0.04618--Inherited
Mammalian Phenotype (MP)abnormal kidney morphology0.8018--Inherited
Mammalian Phenotype (MP)abnormal craniofacial morphology0.0008873Moderately InformativeDirect
Mammalian Phenotype (MP)abnormal renal/urinary system morphology0.00408Moderately InformativeInherited
Mammalian Phenotype (MP)abnormal skin morphology0.004533Moderately InformativeInherited
Mammalian Phenotype (MP)limbs/digits/tail phenotype0.02983Moderately InformativeInherited
Mammalian Phenotype (MP)abnormal eye morphology0.7714Moderately InformativeInherited
Mammalian Phenotype (MP)abnormal skin appearance0.0004791InformativeDirect
Mammalian Phenotype (MP)abnormal autopod morphology0.001736InformativeInherited
Mammalian Phenotype (MP)abnormal eyelid morphology0.00924InformativeInherited
Mammalian Phenotype (MP)microphthalmia0.0002261Highly InformativeDirect
Mammalian Phenotype (MP)blistering0.0003057Highly InformativeDirect

LINKTO: Domain2BO Download and Domain2BO Algorithm

WP

Worm Phenotype (WP)

WP term FDR (all) SDWP (four levels) Annotation (direct or inherited)
Worm Phenotype (WP)postembryonic development variant0--Direct
Worm Phenotype (WP)embryonic lethal0--Direct
Worm Phenotype (WP)lethal0--Direct
Worm Phenotype (WP)fertility variant0--Direct
Worm Phenotype (WP)development variant0--Direct
Worm Phenotype (WP)morphology variant0--Direct
Worm Phenotype (WP)organism development variant0--Direct
Worm Phenotype (WP)organism morphology variant0--Direct
Worm Phenotype (WP)organ system physiology variant0--Direct
Worm Phenotype (WP)reproductive system physiology variant0--Direct
Worm Phenotype (WP)maternal sterile0--Direct
Worm Phenotype (WP)hermaphrodite sterile0--Direct
Worm Phenotype (WP)embryonic development variant0--Direct
Worm Phenotype (WP)hermaphrodite fertility variant0--Direct
Worm Phenotype (WP)hermaphrodite fertility reduced0--Direct
Worm Phenotype (WP)fertility reduced0--Direct
Worm Phenotype (WP)physiology variant1--Inherited
Worm Phenotype (WP)sterile1--Inherited

LINKTO: Domain2BO Download and Domain2BO Algorithm

ZA

Zebrafish Anatomy (ZA)

ZA term FDR (all) SDZA (four levels) Annotation (direct or inherited)
Zebrafish Anatomy (ZA)compound organ0--Direct
Zebrafish Anatomy (ZA)whole organism0--Direct
Zebrafish Anatomy (ZA)anatomical system0--Direct
Zebrafish Anatomy (ZA)anatomical group0--Direct
Zebrafish Anatomy (ZA)anatomical structure1--Inherited
Zebrafish Anatomy (ZA)organism subdivision0Least InformativeDirect
Zebrafish Anatomy (ZA)anatomical cluster0Least InformativeDirect
Zebrafish Anatomy (ZA)multi-tissue structure0Least InformativeDirect
Zebrafish Anatomy (ZA)cavitated compound organ0Least InformativeDirect

LINKTO: Domain2BO Download and Domain2BO Algorithm

XA

Xenopus Anatomy (XA)

XA term FDR (all) SDXA (four levels) Annotation (direct or inherited)
Xenopus ANatomical entity (XAN)anatomical structure0--Direct
 
XA term FDR (all) SDXA (four levels) Annotation (direct or inherited)
Xenopus DEvelopment stage (XDE)NF stage0--Direct

LINKTO: Domain2BO Download and Domain2BO Algorithm

CD

CTD Diseases (CD)

CD term FDR (all) SDCD (four levels) Annotation (direct or inherited)
CTD Diseases (CD)Synostosis0.000008535--Direct
CTD Diseases (CD)Dysostoses0.00004238--Direct
CTD Diseases (CD)Musculoskeletal Abnormalities0.06609--Inherited
CTD Diseases (CD)Neurologic Manifestations0.07634--Inherited
CTD Diseases (CD)Congenital, Hereditary, and Neonatal Diseases and Abnormalities0.08596--Inherited
CTD Diseases (CD)Pathological Conditions, Signs and Symptoms0.2004Least InformativeInherited
CTD Diseases (CD)Nervous System Diseases0.4027Least InformativeInherited
CTD Diseases (CD)Congenital Abnormalities0.00446Moderately InformativeInherited
CTD Diseases (CD)Musculoskeletal Diseases0.1191Moderately InformativeInherited
CTD Diseases (CD)Signs and Symptoms0.2601Moderately InformativeInherited
CTD Diseases (CD)Abnormalities, Multiple0.00001448InformativeDirect
CTD Diseases (CD)Seizures0.0004046InformativeDirect
CTD Diseases (CD)Bone Diseases0.007157InformativeInherited
CTD Diseases (CD)Bone Diseases, Developmental0.002292Highly InformativeInherited

LINKTO: Domain2BO Download and Domain2BO Algorithm

CC

CTD Chemicals (CC)

CC term FDR (all) SDCC (four levels) Annotation (direct or inherited)
CTD Chemicals (CC)Hydrocarbons0--Direct
CTD Chemicals (CC)Hydrocarbons, Aromatic0--Direct
CTD Chemicals (CC)Hydrocarbons, Cyclic0--Direct
CTD Chemicals (CC)Organic Chemicals0--Direct

LINKTO: Domain2BO Download and Domain2BO Algorithm

Distribution on sTOL

Plot distribution on species Tree Of Life (sTOL) for this domain, i.e., present or absent across genomes/tips
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