TaoMedAI/RareMedData huggingface dataset:
Gene: FOXC2
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FOXC2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FOXE1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Lethargy (HP:0001254)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bamforth syndrome; Bamforth-Lazarus syndrome; Athyroidal hypothyroidism-spiky hair-cleft palate syndrome; Hypothyroidism-cleft palate syndrome (ORPHA:1226)
Gene: FOXE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: THYROID CANCER, NONMEDULLARY, 4 (OMIM:616534)
Gene: FOXE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THYROID CANCER, NONMEDULLARY, 4 (OMIM:616534)
Gene: FOXE1
Phenotype: Bone pain (HP:0002653)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Bamforth syndrome; Bamforth-Lazarus syndrome; Athyroidal hypothyroidism-spiky hair-cleft palate syndrome; Hypothyroidism-cleft palate syndrome (ORPHA:1226)
Gene: FOXE1
Phenotype: Prostate cancer (HP:0012125)
Associated disease: THYROID CANCER, NONMEDULLARY, 4 (OMIM:616534)
Gene: FOXE1
Phenotype: Coldness (HP:0033850)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Abnormal lymph node morphology (HP:0002733)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Chronic noninfectious lymphadenopathy (HP:0002730)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Constipation (HP:0002019)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Nodular goiter (HP:0005994)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Thyroid agenesis (HP:0008191)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Thyroid agenesis (HP:0008191)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Thyroid agenesis (HP:0008191)
Associated disease: Bamforth syndrome; Bamforth-Lazarus syndrome; Athyroidal hypothyroidism-spiky hair-cleft palate syndrome; Hypothyroidism-cleft palate syndrome (ORPHA:1226)
Gene: FOXE1
Phenotype: Decreased circulating thyroglobulin concentration (HP:6000244)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Bifid epiglottis (HP:0010564)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Hypersomnia (HP:0100786)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Hypersomnia (HP:0100786)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Anti-thyroid antibody positivity (HP:0430050)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Ovarian neoplasm (HP:0100615)
Associated disease: THYROID CANCER, NONMEDULLARY, 4 (OMIM:616534)
Gene: FOXE1
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Bamforth syndrome; Bamforth-Lazarus syndrome; Athyroidal hypothyroidism-spiky hair-cleft palate syndrome; Hypothyroidism-cleft palate syndrome (ORPHA:1226)
Gene: FOXE1
Phenotype: Short stature (HP:0004322)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Colon cancer (HP:0003003)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Bamforth syndrome; Bamforth-Lazarus syndrome; Athyroidal hypothyroidism-spiky hair-cleft palate syndrome; Hypothyroidism-cleft palate syndrome (ORPHA:1226)
Gene: FOXE1
Phenotype: Goiter (HP:0000853)
Associated disease: THYROID CANCER, NONMEDULLARY, 4 (OMIM:616534)
Gene: FOXE1
Phenotype: Goiter (HP:0000853)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Bilateral choanal atresia (HP:0004502)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Neoplasm of head and neck (HP:0012288)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Facial edema (HP:0000282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Bamforth syndrome; Bamforth-Lazarus syndrome; Athyroidal hypothyroidism-spiky hair-cleft palate syndrome; Hypothyroidism-cleft palate syndrome (ORPHA:1226)
Gene: FOXE1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: THYROID CANCER, NONMEDULLARY, 4 (OMIM:616534)
Gene: FOXE1
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Bamforth syndrome; Bamforth-Lazarus syndrome; Athyroidal hypothyroidism-spiky hair-cleft palate syndrome; Hypothyroidism-cleft palate syndrome (ORPHA:1226)
Gene: FOXE1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Growth delay (HP:0001510)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Fatigue (HP:0012378)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Hoarse cry (HP:0001615)
Associated disease: Athyreosis (ORPHA:95713)
Gene: FOXE1
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Gene: FOXE1
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Bamforth syndrome; Bamforth-Lazarus syndrome; Athyroidal hypothyroidism-spiky hair-cleft palate syndrome; Hypothyroidism-cleft palate syndrome (ORPHA:1226)
Gene: FOXE1
Phenotype: Follicular thyroid carcinoma (HP:0006731)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Abnormal neck blood vessel morphology (HP:3000037)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Papillary renal cell carcinoma (HP:0006766)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXE1
Phenotype: Pain (HP:0012531)
Associated disease: FNMTC; Familial pure nonmedullary thyroid carcinoma; Familial papillary or follicular thyroid carcinoma (ORPHA:319487)
Gene: FOXO1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: RHABDOMYOSARCOMA 2 (OMIM:268220)
Gene: FOXO1
Phenotype: Alveolar rhabdomyosarcoma (HP:0006779)
Associated disease: RHABDOMYOSARCOMA 2 (OMIM:268220)
Gene: FLG
Phenotype: Motor delay (HP:0001270)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Absent keratohyalin granules (HP:0033807)
Associated disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Gene: FLG
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Gene: FLG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Gene: FLG
Phenotype: Asthma (HP:0002099)
Associated disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Gene: FLG
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Palmar hyperlinearity (HP:0033252)
Associated disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Gene: FLG
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Gene: FLG
Phenotype: Autism (HP:0000717)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Childhood onset (HP:0011463)
Associated disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Gene: FLG
Phenotype: Dry skin (HP:0000958)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Dry skin (HP:0000958)
Associated disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Gene: FLG
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Gene: FLG
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ICHTHYOSIS VULGARIS (OMIM:146700)
Gene: FLG
Phenotype: Ichthyosis (HP:0008064)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLG
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: X-linked ichthyosis; RXLI; XLI; Recessive X-linked ichthyosis; Steroid sulfatase deficiency (ORPHA:461)
Gene: FLI1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Aplasia/Hypoplasia of the earlobes (HP:0009906)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Spina bifida (HP:0002414)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Seizure (HP:0001250)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Paris-Trousseau thrombocytopenia (ORPHA:851)
Gene: FLI1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Neoplasm of the scrotum (HP:0100849)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Elevated carcinoma antigen 125 level (HP:0031030)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Menorrhagia (HP:0000132)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 21 (OMIM:617443)
Gene: FLI1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)
Gene: FLI1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Monosomy 11qter; Del(11)(qter); 11q terminal deletion syndrome; Distal deletion 11q; Distal monosomy 11q; Telomeric deletion 11q; Del(11)(q23.3); Chromosome 11q deletion syndrome; Jacobsen syndrome (ORPHA:2308)
Gene: FLI1
Phenotype: Anorexia (HP:0002039)
Associated disease: Peripheral primitive neuroectodermal tumor; Peripheral neuroepithelioma; Peripheral PNET; PPNET (ORPHA:370348)