TaoMedAI/RareMedData huggingface dataset:
Gene: COX6B1
Phenotype: Myalgia (HP:0003326)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Anemia (HP:0001903)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Renal Fanconi syndrome (HP:0001994)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Glycosuria (HP:0003076)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: High palate (HP:0000218)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Increased hepatocellular lipid droplets (HP:0006565)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Undetectable visual evoked potentials (HP:0007965)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX6B1
Phenotype: Ptosis (HP:0000508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Gene: COX6B1
Phenotype: Visual loss (HP:0000572)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Gene: COX7B
Phenotype: Mandibular aplasia (HP:0009939)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Seizure (HP:0001250)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Seizure (HP:0001250)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Asymmetric, linear skin defects (HP:0007398)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Asymmetric, linear skin defects (HP:0007398)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Chordee (HP:0000041)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Epispadias (HP:0000039)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Micropenis (HP:0000054)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Hypospadias (HP:0000047)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Hypospadias (HP:0000047)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Overriding aorta (HP:0002623)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Cleft palate (HP:0000175)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Anal atresia (HP:0002023)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Abnormal rectum morphology (HP:0002034)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Dyspnea (HP:0002094)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Colonic atresia (HP:0010448)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Junctional ectopic tachycardia (HP:0011716)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Echolalia (HP:0010529)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Congenital onset (HP:0003577)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Severe short stature (HP:0003510)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Aphasia (HP:0002381)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Erythema (HP:0010783)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Mutism (HP:0002300)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Amblyopia (HP:0000646)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Sclerocornea (HP:0000647)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Sclerocornea (HP:0000647)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Blindness (HP:0000618)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Iris coloboma (HP:0000612)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Peters anomaly (HP:0000659)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Short stature (HP:0004322)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Short stature (HP:0004322)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Short nose (HP:0003196)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 (OMIM:300887)
Gene: COX7B
Phenotype: Vitritis (HP:0011531)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Ovotestis (HP:0012861)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Sacral dimple (HP:0000960)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: COX7B
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: COX7B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)