TaoMedAI/RareMedData huggingface dataset:
Gene: CHM
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Macular edema (HP:0040049)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Granular macular appearance (HP:0007793)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Visual impairment (HP:0000505)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Visual impairment (HP:0000505)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: CHOROIDEREMIA (OMIM:303100)
Gene: CHM
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Color vision defect (HP:0000551)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHM
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CHM
Phenotype: Myopia (HP:0000545)
Associated disease: Tapetochoroidal dystrophy; Choroideremia; CHM (ORPHA:180)
Gene: CHN1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Duane anomaly (HP:0009921)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Duane anomaly (HP:0009921)
Associated disease: DUANE RETRACTION SYNDROME 2 (OMIM:604356)
Gene: CHN1
Phenotype: Seizure (HP:0001250)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DUANE RETRACTION SYNDROME 2 (OMIM:604356)
Gene: CHN1
Phenotype: Absent radius (HP:0003974)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Impaired ocular abduction (HP:0000634)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Amblyopia (HP:0000646)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Amblyopia (HP:0000646)
Associated disease: DUANE RETRACTION SYNDROME 2 (OMIM:604356)
Gene: CHN1
Phenotype: Blepharospasm (HP:0000643)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Patchy hypopigmentation of hair (HP:0011365)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Gustatory lacrimation (HP:0100274)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Central heterochromia (HP:0007818)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Micrognathia (HP:0000347)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Hypoplastic iris stroma (HP:0007990)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Strabismus (HP:0000486)
Associated disease: DUANE RETRACTION SYNDROME 2 (OMIM:604356)
Gene: CHN1
Phenotype: Strabismus (HP:0000486)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Microcornea (HP:0000482)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Short neck (HP:0000470)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Webbed neck (HP:0000465)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Aniridia (HP:0000526)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Ptosis (HP:0000508)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: CHN1
Phenotype: Impaired ocular adduction (HP:0000542)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: LYST
Phenotype: Ocular albinism (HP:0001107)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Ocular albinism (HP:0001107)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Hypertonia (HP:0001276)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Seizure (HP:0001250)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Seizure (HP:0001250)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Ataxia (HP:0001251)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Ataxia (HP:0001251)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Inability to walk (HP:0002540)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Giant neutrophil granules (HP:0032499)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Recurrent staphylococcal infections (HP:0007499)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Tremor (HP:0001337)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Tremor (HP:0001337)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Abnormal natural killer cell morphology (HP:0012176)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Abnormality of multiple cell lineages in the bone marrow (HP:0012145)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Atrophy of alveolar ridges (HP:0006308)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Abnormal platelet function (HP:0011869)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Silver-gray hair (HP:0002218)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Impaired neutrophil bactericidal activity (HP:0011993)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Abnormal neutrophil physiology (HP:0011990)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Recurrent streptococcal infections (HP:0020096)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)
Gene: LYST
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Chédiak-Higashi syndrome; Chédiak-Higashi-Steinbrink syndrome; Chédiak-Higashi disease (ORPHA:167)
Gene: LYST
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Attenuated Chédiak-Higashi syndrome; Atypical Chédiak-Higashi syndrome (ORPHA:352723)
Gene: LYST
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated disease: CHEDIAK-HIGASHI SYNDROME (OMIM:214500)