TaoMedAI/RareMedData huggingface dataset:
Gene: IKBKG
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Abnormal circulating immunoglobulin concentration (HP:0010701)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Lymphedema (HP:0001004)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Optic neuritis (HP:0100653)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Verrucae (HP:0200043)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Erythema (HP:0010783)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Erythema (HP:0010783)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Invasive fungal infection (HP:0020101)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Pneumocystis jirovecii pneumonia (HP:0020102)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: Molluscum contagiosum (HP:0032163)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Scarring (HP:0100699)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Pedal edema (HP:0010741)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Optic atrophy (HP:0000648)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Conical tooth (HP:0000698)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: Conical tooth (HP:0000698)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Conical tooth (HP:0000698)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Conical tooth (HP:0000698)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Oligodontia (HP:0000677)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Hypodontia (HP:0000668)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Hypodontia (HP:0000668)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Hypodontia (HP:0000668)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Short stature (HP:0004322)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Short stature (HP:0004322)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Aplasia of the eccrine sweat glands (HP:0040042)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Atrophic, patchy alopecia (HP:0004529)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Pallor (HP:0000980)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Skin rash (HP:0000988)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Ectodermal dysplasia (HP:0000968)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Osteopenia (HP:0000938)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Sparse hair (HP:0008070)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Sparse hair (HP:0008070)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Sparse hair (HP:0008070)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Alopecia (HP:0001596)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Alopecia (HP:0001596)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Microcephaly (HP:0000252)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Growth delay (HP:0001510)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Conical incisor (HP:0011065)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Retinal vascular proliferation (HP:0007850)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Retinal vascular proliferation (HP:0007850)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Autoimmunity (HP:0002960)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Dysgammaglobulinemia (HP:0002961)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Panniculitis (HP:0012490)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Absent hand (HP:0004050)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Strabismus (HP:0000486)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Strabismus (HP:0000486)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Keratitis (HP:0000491)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Keratitis (HP:0000491)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Chorioretinitis (HP:0012424)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Cataract (HP:0000518)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Cataract (HP:0000518)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Broad nail (HP:0001821)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Visual impairment (HP:0000505)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Ridged nail (HP:0001807)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Nail pits (HP:0001803)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Deviation of finger (HP:0004097)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Severe viral infection (HP:0031691)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Severe cytomegalovirus infection (HP:0031692)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)