TaoMedAI/RareMedData huggingface dataset:
Gene: SF3B2
Phenotype: Microtia (HP:0008551)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Right aortic arch (HP:0012020)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Scoliosis (HP:0002650)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Cleft palate (HP:0000175)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Wide mouth (HP:0000154)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Renal agenesis (HP:0000104)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Hypoplasia of facial musculature (HP:0004660)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Block vertebrae (HP:0003305)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Congenital onset (HP:0003577)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Vertebral hypoplasia (HP:0008417)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Transverse facial cleft (HP:0100731)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Branchial anomaly (HP:0009794)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Upper eyelid coloboma (HP:0000636)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Amblyopia (HP:0000646)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Hemifacial hypoplasia (HP:0011332)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Cervical ribs (HP:0000891)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Malar flattening (HP:0000272)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Genu valgum (HP:0002857)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Micrognathia (HP:0000347)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Strabismus (HP:0000486)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Underdeveloped tragus (HP:0011272)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Duplicated tragus (HP:0011270)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Maxillozygomatic hypoplasia (HP:0005439)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Ptosis (HP:0000508)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC27A4
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: IPS; Congenital ichthyosis type 4; Ichthyosis-prematurity syndrome (ORPHA:88621)
Gene: SLC27A4
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Generalized ichthyosis (HP:0007503)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: IPS; Congenital ichthyosis type 4; Ichthyosis-prematurity syndrome (ORPHA:88621)
Gene: SLC27A4
Phenotype: Food allergy (HP:0500093)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Asthma (HP:0002099)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Dermatographic urticaria (HP:0011971)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Erythroderma (HP:0001019)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Pruritus (HP:0000989)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Ichthyosis (HP:0008064)
Associated disease: IPS; Congenital ichthyosis type 4; Ichthyosis-prematurity syndrome (ORPHA:88621)
Gene: SLC27A4
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Premature birth (HP:0001622)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Premature birth (HP:0001622)
Associated disease: IPS; Congenital ichthyosis type 4; Ichthyosis-prematurity syndrome (ORPHA:88621)
Gene: SLC27A4
Phenotype: Caseous vernix-like desquamation (HP:0025724)
Associated disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Gene: SLC27A4
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: IPS; Congenital ichthyosis type 4; Ichthyosis-prematurity syndrome (ORPHA:88621)
Gene: SPINK5
Phenotype: Trichorrhexis nodosa (HP:0009886)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Sepsis (HP:0100806)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Seizure (HP:0001250)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Food allergy (HP:0500093)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Malabsorption (HP:0002024)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Asthma (HP:0002099)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Asthma (HP:0002099)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Emphysema (HP:0002097)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Brittle scalp hair (HP:0004779)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Congenital onset (HP:0003577)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Fine hair (HP:0002213)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Brittle hair (HP:0002299)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Severely increased total eosinophil count (HP:0032061)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Parakeratosis (HP:0001036)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Urticaria (HP:0001025)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Urticaria (HP:0001025)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Erythroderma (HP:0001019)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Erythroderma (HP:0001019)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Angioedema (HP:0100665)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Hypernatremic dehydration (HP:0004906)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Dehydration (HP:0001944)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Short stature (HP:0004322)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Villous atrophy (HP:0011473)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Allergic rhinitis (HP:0003193)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Immunologic hypersensitivity (HP:0100326)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPINK5
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NETHERTON SYNDROME (OMIM:256500)
Gene: SPINK5
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Skin rash (HP:0000988)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Dry skin (HP:0000958)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPINK5
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Netherton syndrome; Bamboo hair syndrome; Comèl-Netherton syndrome; NS (ORPHA:634)
Gene: SPINK5
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: NETHERTON SYNDROME (OMIM:256500)