TaoMedAI/RareMedData huggingface dataset:
Gene: DICER1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PLEUROPULMONARY BLASTOMA (OMIM:601200)
Gene: DICER1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
Gene: DICER1
Phenotype: Pulmonary cyst (HP:0032445)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Ovarian thecoma (HP:0030983)
Associated disease: RHABDOMYOSARCOMA, EMBRYONAL, 2 (OMIM:180295)
Gene: DICER1
Phenotype: Multinodular goiter (HP:0005987)
Associated disease: RHABDOMYOSARCOMA, EMBRYONAL, 2 (OMIM:180295)
Gene: DICER1
Phenotype: Multinodular goiter (HP:0005987)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Pleuropulmonary blastoma (HP:0100528)
Associated disease: PLEUROPULMONARY BLASTOMA (OMIM:601200)
Gene: DICER1
Phenotype: Pleuropulmonary blastoma (HP:0100528)
Associated disease: RHABDOMYOSARCOMA, EMBRYONAL, 2 (OMIM:180295)
Gene: DICER1
Phenotype: Pleuropulmonary blastoma (HP:0100528)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Congenital onset (HP:0003577)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Colorectal polyposis (HP:0200063)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Sertoli cell neoplasm (HP:0100619)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Testicular seminoma (HP:0100617)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Cerebellar medulloblastoma (HP:0007129)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Autism (HP:0000717)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Goiter (HP:0000853)
Associated disease: RHABDOMYOSARCOMA, EMBRYONAL, 2 (OMIM:180295)
Gene: DICER1
Phenotype: Euthyroid multinodular goiter (HP:0000866)
Associated disease: GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
Gene: DICER1
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Medulloepithelioma (HP:0030071)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Kyphosis (HP:0002808)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Overgrowth (HP:0001548)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS (OMIM:138800)
Gene: DICER1
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: PLEUROPULMONARY BLASTOMA (OMIM:601200)
Gene: DICER1
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: PLEUROPULMONARY BLASTOMA (OMIM:601200)
Gene: DICER1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Micrognathia (HP:0000347)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR (OMIM:618272)
Gene: DICER1
Phenotype: Embryonal rhabdomyosarcoma (HP:0006743)
Associated disease: RHABDOMYOSARCOMA, EMBRYONAL, 2 (OMIM:180295)
Gene: DICER1
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: DICER1
Phenotype: Alveolar rhabdomyosarcoma (HP:0006779)
Associated disease: Familial multinodular goiter syndrome; Familial MNG; FMNG; Familial multinodular goiter (ORPHA:276399)
Gene: ZFPM2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: ZFPM2
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY SEX REVERSAL 9 (OMIM:616067)
Gene: ZFPM2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Fused labia minora (HP:0000063)
Associated disease: 46,XY SEX REVERSAL 9 (OMIM:616067)
Gene: ZFPM2
Phenotype: Abnormal labia morphology (HP:0000058)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Testicular gonadoblastoma (HP:0000030)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ZFPM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: 46,XY SEX REVERSAL 9 (OMIM:616067)
Gene: ZFPM2
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Ovarian gonadoblastoma (HP:0000149)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY SEX REVERSAL 9 (OMIM:616067)
Gene: ZFPM2
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: ZFPM2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: ZFPM2
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Congenital onset (HP:0003577)
Associated disease: 46,XY SEX REVERSAL 9 (OMIM:616067)
Gene: ZFPM2
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ZFPM2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: ZFPM2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: 46,XY SEX REVERSAL 9 (OMIM:616067)
Gene: ZFPM2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: DIAPHRAGMATIC HERNIA 3 (OMIM:610187)
Gene: ZFPM2
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: ZFPM2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ZFPM2
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Prominent sternum (HP:0000884)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: ZFPM2
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Aplasia/Hypoplasia of the diaphragm (HP:0010315)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: ZFPM2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: ZFPM2
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XY SEX REVERSAL 9 (OMIM:616067)
Gene: ZFPM2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ZFPM2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: ZFPM2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ZFPM2
Phenotype: Hypoxemia (HP:0012418)
Associated disease: CDH; Congenital diaphragmatic hernia (ORPHA:2140)
Gene: ZFPM2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ZFPM2
Phenotype: Proptosis (HP:0000520)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: MLYCD
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Lethargy (HP:0001254)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Seizure (HP:0001250)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Seizure (HP:0001250)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Hypotonia (HP:0001252)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Hypotonia (HP:0001252)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Dystonia (HP:0001332)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Pachygyria (HP:0001302)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Constipation (HP:0002019)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Abdominal pain (HP:0002027)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Diarrhea (HP:0002014)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Diarrhea (HP:0002014)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Vomiting (HP:0002013)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Vomiting (HP:0002013)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Elevated urine suberic acid level (HP:0033213)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts (HP:6000355)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts (HP:6000355)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Elevated urine malonic acid level (HP:0034657)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Ketosis (HP:0001946)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Ketosis (HP:0001946)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Gene: MLYCD
Phenotype: Short stature (HP:0004322)
Associated disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Gene: MLYCD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Deficiency of malonyl-CoA decarboxylase; Malonic aciduria; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)