TaoMedAI/RareMedData huggingface dataset:
Gene: GRHL3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: VAN DER WOUDE SYNDROME 2 (OMIM:606713)
Gene: GRHL3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Cleft lip/palate with mucous cysts of lower lip; VWS; Van der Woude syndrome; Lip-pit syndrome (ORPHA:888)
Gene: GRHL3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: GRHL3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: GRHL3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Submucous cleft palate (HP:5201016)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: GRHL3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: GRHL3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: GRHL3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft hard palate (ORPHA:101023)
Gene: GRHL3
Phenotype: Short face (HP:0011219)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: CADM3
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Wrist drop (HP:0031189)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Weak grip (HP:0033466)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: CADM3
Phenotype: Pes planus (HP:0001763)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Gene: SQOR
Phenotype: Coma (HP:0001259)
Associated disease: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY (OMIM:619221)
Gene: SQOR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY (OMIM:619221)
Gene: SQOR
Phenotype: Migraine (HP:0002076)
Associated disease: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY (OMIM:619221)
Gene: SQOR
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY (OMIM:619221)
Gene: SQOR
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY (OMIM:619221)
Gene: SQOR
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY (OMIM:619221)
Gene: SQOR
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY (OMIM:619221)
Gene: SQOR
Phenotype: Tonic seizure (HP:0032792)
Associated disease: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY (OMIM:619221)
Gene: NLRC4
Phenotype: Meningitis (HP:0001287)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 (OMIM:616115)
Gene: NLRC4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Myalgia (HP:0003326)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Infantile onset (HP:0003593)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 (OMIM:616115)
Gene: NLRC4
Phenotype: Urticaria (HP:0001025)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Urticaria (HP:0001025)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 (OMIM:616115)
Gene: NLRC4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Fever (HP:0001945)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 (OMIM:616115)
Gene: NLRC4
Phenotype: Fever (HP:0001945)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Recurrent fever (HP:0001954)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Anemia (HP:0001903)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Short stature (HP:0004322)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Enterocolitis (HP:0004387)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Villous atrophy (HP:0011473)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Skin rash (HP:0000988)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Arthralgia (HP:0002829)
Associated disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 (OMIM:616115)
Gene: NLRC4
Phenotype: Arthralgia (HP:0002829)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Fatigue (HP:0012378)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: NLRC4
Phenotype: Pancytopenia (HP:0001876)
Associated disease: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS (OMIM:616050)
Gene: JAM2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Hypertonia (HP:0001276)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Seizure (HP:0001250)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Dysarthria (HP:0001260)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Slurred speech (HP:0001350)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Dystonia (HP:0001332)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Tremor (HP:0001337)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Rigidity (HP:0002063)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Rigidity (HP:0002063)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Limb ataxia (HP:0002070)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Babinski sign (HP:0003487)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Memory impairment (HP:0002354)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Vertigo (HP:0002321)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Headache (HP:0002315)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Thalamic calcification (HP:0025041)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Bilateral basal ganglia lesions (HP:0007146)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Abnormal circulating metabolite concentration (HP:0032180)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Clumsiness (HP:0002312)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Nystagmus (HP:0000639)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Impotence (HP:0000802)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Personality changes (HP:0000751)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Anxiety (HP:0000739)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Dementia (HP:0000726)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: JAM2
Phenotype: Psychosis (HP:0000709)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Unusual CNS infection (HP:0011450)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Hypertension (HP:0000822)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: JAM2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE (OMIM:618824)
Gene: OVOL2
Phenotype: Epiphora (HP:0009926)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Uveal ectropion (HP:0025358)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Uveal ectropion (HP:0025358)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Thinning of Descemet membrane (HP:0031159)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Ocular pain (HP:0200026)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Iris atrophy (HP:0001089)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Very low visual acuity (HP:0032122)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)