TaoMedAI/RareMedData huggingface dataset:
Gene: HARS1
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Astigmatism (HP:0000483)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Hammertoe (HP:0001765)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Cataract (HP:0000518)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Visual impairment (HP:0000505)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Scotoma (HP:0000575)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Visual loss (HP:0000572)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Pain (HP:0012531)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HBA1
Phenotype: Aplasia/Hypoplasia of the earlobes (HP:0009906)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: METHEMOGLOBINEMIA, ALPHA TYPE (OMIM:617973)
Gene: HBA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 7 (OMIM:617981)
Gene: HBA1
Phenotype: Methemoglobinemia (HP:0012119)
Associated disease: METHEMOGLOBINEMIA, ALPHA TYPE (OMIM:617973)
Gene: HBA1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Reduced alpha/beta synthesis ratio (HP:0011907)
Associated disease: ALPHA-THALASSEMIA (OMIM:604131)
Gene: HBA1
Phenotype: Reduced alpha/beta synthesis ratio (HP:0011907)
Associated disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Gene: HBA1
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: HbH hemoglobin (HP:0011903)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: HbH hemoglobin (HP:0011903)
Associated disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Gene: HBA1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: METHEMOGLOBINEMIA, ALPHA TYPE (OMIM:617973)
Gene: HBA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Gene: HBA1
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: ALPHA-THALASSEMIA (OMIM:604131)
Gene: HBA1
Phenotype: Heinz bodies (HP:0020082)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBA1
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Heinz body anemia (HP:0005511)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBA1
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Nonspherocytic hemolytic anemia (HP:0001930)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBA1
Phenotype: Anemia (HP:0001903)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 7 (OMIM:617981)
Gene: HBA1
Phenotype: Polycythemia (HP:0001901)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 7 (OMIM:617981)
Gene: HBA1
Phenotype: Short stature (HP:0004322)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Pallor (HP:0000980)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Cyanosis (HP:0000961)
Associated disease: METHEMOGLOBINEMIA, ALPHA TYPE (OMIM:617973)
Gene: HBA1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: High palate (HP:0000218)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Fatigue (HP:0012378)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: High forehead (HP:0000348)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Pericarditis (HP:0001701)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Short neck (HP:0000470)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Alpha-thalassemia hydrops fetalis; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis syndrome; Haemoglobin Bart's hydrops fetalis; Homozygous alpha0-thalassemia; Hb Bart's hydrops fetalis syndrome; HBHF; Hb Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; BHFS; Alpha-thalassemia major; Haemoglobin Bart's disease (ORPHA:163596)
Gene: HBA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Gene: HBA1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Short toe (HP:0001831)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA1
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 7 (OMIM:617981)
Gene: HBA1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Gene: HBA2
Phenotype: Aplasia/Hypoplasia of the earlobes (HP:0009906)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEINZ BODY ANEMIAS (OMIM:140700)
Gene: HBA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 7 (OMIM:617981)
Gene: HBA2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type; ATR syndrome, deletion type (ORPHA:98791)
Gene: HBA2
Phenotype: Reduced alpha/beta synthesis ratio (HP:0011907)
Associated disease: ALPHA-THALASSEMIA (OMIM:604131)
Gene: HBA2
Phenotype: Reduced alpha/beta synthesis ratio (HP:0011907)
Associated disease: HEMOGLOBIN H DISEASE (OMIM:613978)