TaoMedAI/RareMedData huggingface dataset:
Gene: ASXL1
Phenotype: Tachycardia (HP:0001649)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Bradycardia (HP:0001662)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Annular pancreas (HP:0001734)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Strabismus (HP:0000486)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Bilateral wrist flexion contracture (HP:0012453)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Multiple myeloma (HP:0006775)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Proptosis (HP:0000520)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Proptosis (HP:0000520)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Weight loss (HP:0001824)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Weight loss (HP:0001824)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Short toe (HP:0001831)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Coloboma (HP:0000589)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Food intolerance (HP:0012537)
Associated disease: Bohring-Opitz syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome; BOS syndrome; C-like syndrome; Bohring syndrome (ORPHA:97297)
Gene: ASXL1
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease; Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD (ORPHA:98849)
Gene: ASXL1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: ASXL1
Phenotype: Myopia (HP:0000545)
Associated disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Gene: ASXL1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Aggressive systemic mastocytosis (ORPHA:98850)
Gene: SPTSSA
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Absent speech (HP:0001344)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Absent speech (HP:0001344)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Tethered cord (HP:0002144)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Tethered cord (HP:0002144)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Drooling (HP:0002307)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Drooling (HP:0002307)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Short stature (HP:0004322)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Joint contracture (HP:0034392)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPASTIC PARAPLEGIA 90A, AUTOSOMAL DOMINANT (OMIM:620416)
Gene: SPTSSA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: SPTSSA
Phenotype: Myopia (HP:0000545)
Associated disease: SPASTIC PARAPLEGIA 90B, AUTOSOMAL RECESSIVE (OMIM:620417)
Gene: POLR3H
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Ataxia (HP:0001251)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Short stature (HP:0004322)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Osteopenia (HP:0000938)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Microcephaly (HP:0000252)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: POLR3H
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: DNAH10
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNAH10
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNAH10
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNAH10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 56 (OMIM:619515)
Gene: DNAH10
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNAH10
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 56 (OMIM:619515)
Gene: DNAH10
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 56 (OMIM:619515)
Gene: DNAH10
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 56 (OMIM:619515)
Gene: DNAH10
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNAH10
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNAH10
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 56 (OMIM:619515)
Gene: DNAH10
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 56 (OMIM:619515)
Gene: DNAH10
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 56 (OMIM:619515)
Gene: DNAH10
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNAH10
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 56 (OMIM:619515)
Gene: DNAH10
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 56 (OMIM:619515)
Gene: ANO6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SCOTT SYNDROME (OMIM:262890)
Gene: ANO6
Phenotype: Factor X activation deficiency (HP:0008354)
Associated disease: SCOTT SYNDROME (OMIM:262890)
Gene: ANO6
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: SCOTT SYNDROME (OMIM:262890)
Gene: ARID2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Motor delay (HP:0001270)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Seizure (HP:0001250)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Seizure (HP:0001250)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)