TaoMedAI/RareMedData huggingface dataset:
Gene: FZD4
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Epiphora (HP:0009926)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Persistent pupillary membrane (HP:0009917)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Motor delay (HP:0001270)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Falciform retinal fold (HP:0001493)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Posterior vitreous detachment (HP:0001489)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Retinopathy of prematurity (HP:0500049)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Angle closure glaucoma (HP:0012109)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Hemorrhage of the eye (HP:0011885)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Infantile onset (HP:0003593)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Adult onset (HP:0003581)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Ectopic fovea (HP:0025007)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Lymphedema (HP:0001004)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Slowly progressive (HP:0003677)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Macular telangiectasia (HP:0030503)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Amblyopia (HP:0000646)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Amblyopia (HP:0000646)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Blindness (HP:0000618)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Blindness (HP:0000618)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Blindness (HP:0000618)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Blindness (HP:0000618)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Exudative vitreoretinopathy (HP:0030490)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Macular exudate (HP:0030496)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Retinal neovascularization (HP:0030666)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Epiretinal membrane (HP:0100014)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Hyaloid vascular remnant and retrolental mass (HP:0030744)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Glial remnants anterior to the optic disc (HP:0030743)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Retinal hole (HP:0011530)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Macular edema (HP:0040049)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Retinal fold (HP:0008052)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Rhegmatogenous retinal detachment (HP:0012230)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Subretinal fluid (HP:0031526)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Premature birth (HP:0001622)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Corneal opacity (HP:0007957)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Tractional retinal detachment (HP:0007917)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Vitreous hemorrhage (HP:0007902)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Strabismus (HP:0000486)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Strabismus (HP:0000486)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Microcornea (HP:0000482)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Cataract (HP:0000518)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Cataract (HP:0000518)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Cataract (HP:0000518)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Developmental cataract (HP:0000519)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Buphthalmos (HP:0000557)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Leukocoria (HP:0000555)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: PFVS; Persistent hyperplastic primary vitreous; Non-syndromic congenital retinal non-attachment; Congenital retinal detachment; PHPV; Persistent fetal vasculature syndrome; NCRNA disease (ORPHA:91495)
Gene: FZD4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Esotropia (HP:0000565)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Retinal detachment (HP:0000541)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Myopia (HP:0000545)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)
Gene: FZD6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 (OMIM:161050)
Gene: FZD6
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 (OMIM:161050)
Gene: FZD6
Phenotype: Congenital onset (HP:0003577)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 (OMIM:161050)
Gene: FZD6
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 (OMIM:161050)
Gene: FZD6
Phenotype: Trachyonychia (HP:0030804)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 (OMIM:161050)
Gene: FZD6
Phenotype: Onychogryphosis (HP:0001805)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 (OMIM:161050)
Gene: FZD6
Phenotype: Onycholysis (HP:0001806)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 (OMIM:161050)
Gene: FZD6
Phenotype: Onychauxis (HP:0012542)
Associated disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 (OMIM:161050)
Gene: GFI1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Reduced prothrombin consumption (HP:0003337)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Prolonged bleeding following procedure (HP:0011890)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Infantile onset (HP:0003593)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Increased RBC distribution width (HP:0031965)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Petechiae (HP:0000967)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Ecchymosis (HP:0031364)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Epistaxis (HP:0000421)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Absence of alpha granules (HP:0012526)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: GFI1B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Gene: H4C11
Phenotype: Hypotonia (HP:0001252)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Hypospadias (HP:0000047)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Absent speech (HP:0001344)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Wide mouth (HP:0000154)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Congenital onset (HP:0003577)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Short stature (HP:0004322)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Autistic behavior (HP:0000729)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Growth delay (HP:0001510)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Short philtrum (HP:0000322)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Pes planus (HP:0001763)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C11
Phenotype: Esotropia (HP:0000565)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Gene: H4C3
Phenotype: Seizure (HP:0001250)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Hypotonia (HP:0001252)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Hepatic failure (HP:0001399)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)