TaoMedAI/RareMedData huggingface dataset:
Gene: KIF1C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Tremor (HP:0001337)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Tremor (HP:0001337)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Chorea (HP:0002072)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Clonus (HP:0002169)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Hypodontia (HP:0000668)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Short stature (HP:0004322)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: KIF1C
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Titubation (HP:0030187)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Torticollis (HP:0000473)
Associated disease: SPG58; Autosomal spastic ataxia type 2; SPAX2; Autosomal spastic paraplegia type 58 (ORPHA:397946)
Gene: KIF1C
Phenotype: Torticollis (HP:0000473)
Associated disease: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE (OMIM:611302)
Gene: GRAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 114 (OMIM:618456)
Gene: GRAP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 114 (OMIM:618456)
Gene: GIPC1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: Areflexia (HP:0001284)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Bowing of the vocal cords (HP:0008756)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Paraplegia (HP:0010550)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Abnormal morphology of musculature of pharynx (HP:0430015)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: High palate (HP:0000218)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Progressive ptosis (HP:0007838)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Abnormality of facial musculature (HP:0000301)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: Abnormality of orbicularis oris muscle (HP:3000010)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Abnormality of masseter muscle (HP:3000005)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Weight loss (HP:0001824)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Ptosis (HP:0000508)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: GIPC1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: GIPC1
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: OCULOPHARYNGODISTAL MYOPATHY 2 (OMIM:618940)
Gene: TRAF3IP2
Phenotype: Cheilitis (HP:0100825)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Cheilitis (HP:0100825)
Associated disease: CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
Gene: TRAF3IP2
Phenotype: Seizure (HP:0001250)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
Gene: TRAF3IP2
Phenotype: Macroglossia (HP:0000158)
Associated disease: CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
Gene: TRAF3IP2
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Abnormality of the mouth (HP:0000153)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Hepatitis (HP:0012115)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Hemoptysis (HP:0002105)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
Gene: TRAF3IP2
Phenotype: Papule (HP:0200034)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Erythema (HP:0010783)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
Gene: TRAF3IP2
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
Gene: TRAF3IP2
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Cough (HP:0012735)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
Gene: TRAF3IP2
Phenotype: Hematuria (HP:0000790)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Pruritus (HP:0000989)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Skin rash (HP:0000988)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Onychomycosis (HP:0012203)
Associated disease: CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
Gene: TRAF3IP2
Phenotype: Dyspareunia (HP:0030016)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Blepharitis (HP:0000498)
Associated disease: CANDIDIASIS, FAMILIAL, 8 (OMIM:615527)
Gene: TRAF3IP2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Broad nail (HP:0001821)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: TRAF3IP2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: CMC; Chronic mucocutaneous candidiasis (ORPHA:1334)
Gene: KDM5B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Hypospadias (HP:0000047)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Low hanging columella (HP:0009765)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Contracture of the proximal interphalangeal joint of the 4th finger (HP:0009276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Square face (HP:0000321)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Astigmatism (HP:0000483)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: KDM5B
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 (OMIM:618109)
Gene: ZMYND11
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
Gene: ZMYND11
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)