TaoMedAI/RareMedData huggingface dataset:
Gene: COG3
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Prominent nose (HP:0000448)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: COG3
Phenotype: Visual impairment (HP:0000505)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb (OMIM:620546)
Gene: GPR101
Phenotype: Large hands (HP:0001176)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Tapered finger (HP:0001182)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Visual field defect (HP:0001123)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Snoring (HP:0025267)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Galactorrhea (HP:0100829)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Seizure (HP:0001250)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Polyphagia (HP:0002591)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Cortical diaphyseal thickening of the upper limbs (HP:0003859)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Tall stature (HP:0000098)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Joint swelling (HP:0001386)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Acral overgrowth (HP:0033794)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Acral overgrowth (HP:0033794)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Macroglossia (HP:0000158)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Asthenia (HP:0025406)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Body odor (HP:0500001)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING (OMIM:300943)
Gene: GPR101
Phenotype: Multinodular goiter (HP:0005987)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Myalgia (HP:0003326)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Migraine (HP:0002076)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Dysuria (HP:0100518)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Spinal canal stenosis (HP:0003416)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Skin tags (HP:0010609)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Cutis gyrata of scalp (HP:0010541)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Sleep apnea (HP:0010535)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Paresthesia (HP:0003401)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Decreased libido (HP:0046504)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hypersomnia (HP:0100786)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Acne (HP:0001061)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Headache (HP:0002315)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Headache (HP:0002315)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Dysmenorrhea (HP:0100607)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Thickened skin (HP:0001072)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Facial shape deformation (HP:0011334)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Synophrys (HP:0000664)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Impotence (HP:0000802)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Anxiety (HP:0000739)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Depression (HP:0000716)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Infertility (HP:0000789)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING (OMIM:300943)
Gene: GPR101
Phenotype: Elevated circulating growth hormone concentration (HP:0000845)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Broad jaw (HP:0012802)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hypertension (HP:0000822)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Full cheeks (HP:0000293)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Long face (HP:0000276)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Arthralgia (HP:0002829)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Arthralgia (HP:0002829)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Kyphosis (HP:0002808)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Kyphosis (HP:0002808)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Overgrowth (HP:0001548)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING (OMIM:300943)
Gene: GPR101
Phenotype: Pituitary adenoma (HP:0002893)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Pituitary macroadenoma (HP:0025693)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Fatigue (HP:0012378)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hemianopia (HP:0012377)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Intestinal polyp (HP:0005266)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Broad forehead (HP:0000337)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Night sweats (HP:0030166)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Abnormal heart valve physiology (HP:0031653)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Macrotia (HP:0000400)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Restless legs (HP:0012452)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Broad foot (HP:0001769)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Increased circulating insulin-like growth factor 1 concentration (HP:0030269)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Increased circulating insulin-like growth factor 1 concentration (HP:0030269)
Associated disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Gene: GPR101
Phenotype: Wide nose (HP:0000445)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Pituitary prolactin cell adenoma (HP:0006767)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Macrodactyly (HP:0004099)
Associated disease: Acromegaly (ORPHA:963)
Gene: GPR101
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: Acromegaly (ORPHA:963)
Gene: MFRP
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NANOPHTHALMOS 2 (OMIM:609549)
Gene: MFRP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Foveoschisis (HP:0012152)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Abnormal light- and dark-adapted electroretinogram (HP:0008323)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: MFRP
Phenotype: High hypermetropia (HP:0008499)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Photophobia (HP:0000613)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: MFRP
Phenotype: Nyctalopia (HP:0000662)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Young adult onset (HP:0011462)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Scleral thickening (HP:0030823)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: MFRP
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Strabismus (HP:0000486)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: MFRP
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Cataract (HP:0000518)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Glaucoma (HP:0000501)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: MFRP
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: MFRP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NANOPHTHALMOS 2 (OMIM:609549)
Gene: MFRP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
Gene: MFRP
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFRP
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SOX7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SOX7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SOX7
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SOX7
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SOX7
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SOX7
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CCM2
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)
Gene: CCM2
Phenotype: Stroke (HP:0001297)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)
Gene: CCM2
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)
Gene: CCM2
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)
Gene: CCM2
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)
Gene: CCM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Spinal cord lesion (HP:0100561)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: CCM2
Phenotype: Vestibular schwannoma (HP:0009588)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Adrenal calcification (HP:0010512)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCM2
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)