TaoMedAI/RareMedData huggingface dataset:
Gene: KCNAB2
Phenotype: Kyphosis (HP:0002808)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Obesity (HP:0001513)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Long philtrum (HP:0000343)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNAB2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNAB2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNAB2
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Pointed chin (HP:0000307)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNAB2
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: KCNAB2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Annular pancreas (HP:0001734)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Strabismus (HP:0000486)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Short foot (HP:0001773)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Cataract (HP:0000518)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Visual impairment (HP:0000505)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: KCNAB2
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: ITGA8
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Proteinuria (HP:0000093)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Cleft palate (HP:0000175)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Potter facies (HP:0002009)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Sirenomelia (HP:0010497)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Congenital onset (HP:0003577)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Nonketotic hypoglycemia (HP:0001958)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Hypertension (HP:0000822)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Epicanthus (HP:0000286)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Retrognathia (HP:0000278)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Abnormal sacrum morphology (HP:0005107)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Fetal polyuria (HP:0001563)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Low-set ears (HP:0000369)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Low-set ears (HP:0000369)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Renal agenesis, bilateral (ORPHA:1848)
Gene: ITGA8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: ITGA8
Phenotype: Anhydramnios (HP:0025700)
Associated disease: RENAL HYPODYSPLASIA/APLASIA 1 (OMIM:191830)
Gene: IKBKG
Phenotype: Absent peripheral lymph nodes in presence of infection (HP:0033581)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Abnormal circulating IgG concentration (HP:0410242)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Disseminated nontuberculous mycobacterial infection (HP:0032283)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Increased total T cell count (HP:0100828)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Seizure (HP:0001250)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Seizure (HP:0001250)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Hypotonia (HP:0001252)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Spasticity (HP:0001257)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Spasticity (HP:0001257)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410300)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Genital edema (HP:0031188)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Scoliosis (HP:0002650)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Osteolysis (HP:0002797)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Panuveitis (HP:0012121)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Anterior uveitis (HP:0012122)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Asymmetric growth (HP:0100555)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IKBKG
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IKBKG
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Abnormal hand morphology (HP:0005922)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Gene: IKBKG
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)
Gene: IKBKG
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Gene: IKBKG
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Gene: IKBKG
Phenotype: Congenital onset (HP:0003577)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Fine hair (HP:0002213)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Coarse hair (HP:0002208)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Breast aplasia (HP:0100783)
Associated disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Gene: IKBKG
Phenotype: Ridged fingernail (HP:0008402)
Associated disease: Incontinentia pigmenti; Bloch-Sulzberger syndrome; Bloch-Siemens syndrome (ORPHA:464)
Gene: IKBKG
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: EDA-ID; Hypohidrotic ectodermal dysplasia with immunodeficiency; HED-ID; Anhidrotic ectodermal dysplasia with immunodeficiency (ORPHA:98813)