TaoMedAI/RareMedData huggingface dataset:
Gene: HBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE (OMIM:603902)
Gene: HBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hemoglobin E disease (ORPHA:2133)
Gene: HBB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hemoglobin D disease (ORPHA:90039)
Gene: HBB
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Anisocytosis (HP:0011273)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Cooley anemia; Mediterranean anemia; Beta-thalassemia major (ORPHA:231214)
Gene: HBB
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Gene: HBB
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 6 (OMIM:617980)
Gene: HBB
Phenotype: Pain (HP:0012531)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBB
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SICKLE CELL ANEMIA (OMIM:603903)
Gene: HBB
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Sickle cell anemia (ORPHA:232)
Gene: HBD
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Delta-beta-thalassemia (ORPHA:231237)
Gene: HBD
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Delta-beta-thalassemia (ORPHA:231237)
Gene: HBD
Phenotype: Anemia (HP:0001903)
Associated disease: Delta-beta-thalassemia (ORPHA:231237)
Gene: HBG1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 (OMIM:141749)
Gene: HBG1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Abnormal bone structure (HP:0003330)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Delta-beta-thalassemia (ORPHA:231237)
Gene: HBG1
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 (OMIM:141749)
Gene: HBG1
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG1
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG1
Phenotype: Increased red cell sickling tendency (HP:0008346)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Severe infection (HP:0032169)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Delta-beta-thalassemia (ORPHA:231237)
Gene: HBG1
Phenotype: Anemia (HP:0001903)
Associated disease: Delta-beta-thalassemia (ORPHA:231237)
Gene: HBG1
Phenotype: Anemia (HP:0001903)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG1
Phenotype: HbS hemoglobin (HP:0045047)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Pallor (HP:0000980)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG1
Phenotype: Splenic infarction (HP:0034336)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Asplenia (HP:0001746)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CYANOSIS, TRANSIENT NEONATAL (OMIM:613977)
Gene: HBG2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 (OMIM:141749)
Gene: HBG2
Phenotype: Methemoglobinemia (HP:0012119)
Associated disease: CYANOSIS, TRANSIENT NEONATAL (OMIM:613977)
Gene: HBG2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Abnormal bone structure (HP:0003330)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG2
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 (OMIM:141749)
Gene: HBG2
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG2
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Congenital onset (HP:0003577)
Associated disease: CYANOSIS, TRANSIENT NEONATAL (OMIM:613977)
Gene: HBG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CYANOSIS, TRANSIENT NEONATAL (OMIM:613977)
Gene: HBG2
Phenotype: Increased red cell sickling tendency (HP:0008346)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Severe infection (HP:0032169)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: CYANOSIS, TRANSIENT NEONATAL (OMIM:613977)
Gene: HBG2
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Anemia (HP:0001903)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG2
Phenotype: Anemia (HP:0001903)
Associated disease: CYANOSIS, TRANSIENT NEONATAL (OMIM:613977)
Gene: HBG2
Phenotype: HbS hemoglobin (HP:0045047)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Pallor (HP:0000980)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG2
Phenotype: Splenic infarction (HP:0034336)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Jaundice (HP:0000952)
Associated disease: CYANOSIS, TRANSIENT NEONATAL (OMIM:613977)
Gene: HBG2
Phenotype: Cyanosis (HP:0000961)
Associated disease: CYANOSIS, TRANSIENT NEONATAL (OMIM:613977)
Gene: HBG2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Retinopathy (HP:0000488)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Asplenia (HP:0001746)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HBG2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HPFH-beta-thalassemia syndrome; Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (ORPHA:46532)
Gene: HBG2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Gene: HCCS
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
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: HCCS
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
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: HCCS
Phenotype: Seizure (HP:0001250)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Asymmetric, linear skin defects (HP:0007398)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
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: HCCS
Phenotype: Chordee (HP:0000041)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
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: HCCS
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: HCCS
Phenotype: Micropenis (HP:0000054)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Hypospadias (HP:0000047)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
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: HCCS
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
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: HCCS
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Overriding aorta (HP:0002623)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Cleft palate (HP:0000175)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Anal atresia (HP:0002023)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
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: HCCS
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: HCCS
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: HCCS
Phenotype: Colonic atresia (HP:0010448)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Junctional ectopic tachycardia (HP:0011716)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
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: HCCS
Phenotype: Congenital onset (HP:0003577)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
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: HCCS
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: HCCS
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: HCCS
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: HCCS
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: HCCS
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: HCCS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
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: HCCS
Phenotype: Sclerocornea (HP:0000647)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
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: HCCS
Phenotype: Iris coloboma (HP:0000612)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
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: HCCS
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: HCCS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Peters anomaly (HP:0000659)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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: HCCS
Phenotype: Short stature (HP:0004322)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
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)