| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
|
Colon cancer |
OMIM:609310 |
| Lynch Syndrome I |
|
Colon cancer |
OMIM:120435 |
| Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
| Gastroschisis |
|
Intestinal atresia, Gastroschisis |
ORPHA:2368 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
| Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
| Gastroschisis |
|
Gastroschisis, Abdominal wall defect |
OMIM:230750 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
| Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
| Coats Disease |
|
Abnormal macular morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnormal retinal... |
ORPHA:190 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy |
OMIM:600790 |
| Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Retinal detachment, Macular hypoplasia |
OMIM:610202 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Iris coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... |
ORPHA:90050 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... |
OMIM:616468 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
| Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
| X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
| Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
| Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
| Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane |
OMIM:225200 |
| Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
| Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
| 2q33.1 deletion syndrome |
|
High palate, Cleft palate, Inguinal hernia |
DECIPHER:51 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... |
OMIM:619350 |
| Exudative Vitreoretinopathy 5 |
|
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment |
OMIM:613310 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
| Hernia, Double Inguinal |
|
Inguinal hernia |
OMIM:142350 |
| Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
| Choroideremia |
|
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... |
OMIM:303100 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:615990 |
| Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
| Neovascular Glaucoma |
|
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Retinal detachment, Ab... |
ORPHA:94058 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613809 |
| Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
| Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
| Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
| Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia, Leukocoria |
OMIM:300216 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
| Persistent Placoid Maculopathy |
|
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... |
ORPHA:97341 |
| Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:615780 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy |
OMIM:616188 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... |
OMIM:251270 |
| Omphalocele, Autosomal |
|
Inguinal hernia, Omphalocele |
OMIM:164750 |
| Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
| Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Anal atresia, Aganglionic megacolon, Inguinal hernia |
OMIM:235760 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Coarse h... |
OMIM:252900 |
| Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
| Stickler Syndrome Type 2 |
|
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
| Polydactyly-Myopia Syndrome |
|
Femoral hernia, Inguinal hernia |
ORPHA:2917 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613758 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Joint stiffness, Hypertrichosis, Hirsutism, Hepatomegaly, Beaking of vertebral bo... |
OMIM:252930 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration |
OMIM:614292 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Inguinal hernia |
OMIM:261550 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:618697 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
| Microspherophakia With Hernia |
|
Retinal detachment |
OMIM:157150 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal squamous cell carc... |
ORPHA:424019 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... |
OMIM:300476 |
| Weaver Syndrome |
|
Joint stiffness, Hypoplastic toenails, Thin nail, Hypoplasia of penis, Inguinal hernia, Redundant... |
ORPHA:3447 |
| Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
| Rhiny |
|
Inguinal hernia |
OMIM:180360 |
| Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... |
OMIM:613428 |
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
| Trisomy 20P |
|
Abnormality of the ureter, Coarse hair, Short neck, Platyspondyly, Umbilical hernia, Ectopic anus... |
ORPHA:261318 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Iris coloboma, Retinal detachment, Chorioretinal coloboma |
ORPHA:1473 |
| Intellectual Disability, Wolff Type |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Cryptorchidism, Inguinal hernia, ... |
ORPHA:3080 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, S... |
ORPHA:2869 |
| Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:614180 |
| Scarf Syndrome |
|
Diastasis recti, Short sternum, Sparse hair, Inguinal hernia, Micropenis, Craniosynostosis, Bifid... |
ORPHA:3134 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Coarse hair, Short neck, Heparan sulfate excretion in urine, Platyspondyly, Anterio... |
OMIM:253220 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Reduced subcutaneous adipose tissue, Recurrent fractures, Epiphyseal dysplasia, Coarse hair, Oste... |
OMIM:248010 |
| Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
| Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
| Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:613801 |
| Retinitis Pigmentosa 76 |
|
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... |
OMIM:617123 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Familial Articular Hypermobility Syndrome |
|
Inguinal hernia |
ORPHA:2295 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Kyphoscoliosis, Flexion contracture, Sparse eyebrow, Sparse eyelashes, Osteope... |
ORPHA:75496 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
| Idiopathic Uveal Effusion Syndrome |
|
Retinal fold, Subretinal fluid, Exudative retinal detachment |
ORPHA:209956 |
| Occipital Horn Syndrome |
|
Hiatus hernia, Osteopenia, Coarse hair, Abnormality of the pubic bone, Humerus varus, Down-slopin... |
ORPHA:198 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Abnormality of hair texture, Brittle hair, Inguinal hernia, Cutis laxa, Redundant sk... |
OMIM:219200 |
| Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:601813 |
| X-Linked Ehlers-Danlos Syndrome |
|
Hernia, Gastroesophageal reflux, Inguinal hernia, Umbilical hernia |
ORPHA:75497 |
| Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Omphalocele, Duodenal stenosis, Gastroschisis |
ORPHA:1198 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Inguinal hernia |
ORPHA:1568 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Inguinal hernia, Craniosynosto... |
OMIM:619451 |
| Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Facial hirsutism, Coarse hair, Short neck, Heparan sulfate excretion in urine, Achi... |
OMIM:252940 |
| Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
| Colonic Atresia |
|
Colonic atresia |
OMIM:303650 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Heparan sulf... |
OMIM:252920 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
High palate, Kyphoscoliosis, Anterior rib punctate calcifications, Flexion contracture, Abnormall... |
ORPHA:35173 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
| Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
| Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... |
OMIM:608133 |
| Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Cleft palate, Osteopenia, Coarse hair, Short neck, Biconcave vertebral bodies, Oste... |
ORPHA:955 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment |
ORPHA:436182 |
| Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
| Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
| Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Ciliary body melanoma, Retinal detachment, Mydriasis, Abnorma... |
ORPHA:39044 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Horseshoe kidney, Pericardial lymphangiectasia, Umbilical hernia, Scoliosis, Ves... |
OMIM:235510 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
| Joint Laxity, Short Stature, And Myopia |
|
Iris coloboma, Retinal detachment, Chorioretinal coloboma |
OMIM:617662 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Coarse hair, Short neck, Enlarged kidney, Long eyelashes, Proteinuria, Bone marrow ... |
OMIM:617303 |
| Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Femoral hernia, Small bowel diverticula, Inguinal hernia, Colonic diverticula |
OMIM:223330 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... |
ORPHA:364055 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Inguinal hernia, Joint laxity, Hyperextensible skin, Hip dislocation, Excessive skin wrinkling on... |
OMIM:608763 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Inguinal hernia, Umbilical hernia |
OMIM:617174 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
High palate, Osteopenia, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 ... |
OMIM:618000 |
| Dubowitz Syndrome |
|
High palate, Craniosynostosis, Rectal prolapse, Sandal gap, Sparse lateral eyebrow, Sacral dimple... |
ORPHA:235 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, High palate, Hypertrichosis, Hepatomegaly, Steatorrhea, Coarse hair, Curly hair, ... |
OMIM:618268 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Coarse hair, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, ... |
OMIM:242900 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Pili torti, Sparse scalp hair, Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Patchy alopeci... |
OMIM:613573 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Rectal prolapse, Stercoral ulcer, Hematochezia |
ORPHA:209964 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Microspherophakia-Metaphyseal Dysplasia |
|
Retinal detachment |
OMIM:157151 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hernia, Hiatus hernia, Abnormal rectum morphology |
ORPHA:101009 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Sparse hair, Brittle hair, Arachnodactyly, Camptodactyly of finger, Coarse hair, Scolio... |
ORPHA:1883 |
| Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:312612 |
| Macs Syndrome |
|
High palate, Sparse hair, Sparse eyebrow, Alopecia, Hypergonadotropic hypogonadism, Soft skin, Cu... |
OMIM:613075 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
High palate, Decreased muscle mass, Sparse hair, Inguinal hernia, Generalized joint laxity, Exces... |
ORPHA:357074 |
| Megalocornea |
|
Iridodonesis, Iris transillumination defect, Retinal detachment |
OMIM:309300 |
| Rin2 Syndrome |
|
High palate, Sparse scalp hair, Hirsutism, Hypergonadotropic hypogonadism, Redundant skin, Brachy... |
ORPHA:217335 |
| Hyperekplexia 4 |
|
High palate, Inguinal hernia, Flexion contracture, Camptodactyly, Distal arthrogryposis, Umbilica... |
OMIM:618011 |
| Widow'S Peak Syndrome |
|
Kyphosis, Inguinal hernia, High iliac wing, Arthralgia of the hip, Hip osteoarthritis, Shawl scro... |
OMIM:314570 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Cleft palate, Gastroschisis |
ORPHA:2476 |
| Occipital Horn Syndrome |
|
High palate, Hiatus hernia, Coarse hair, Ureteral obstruction, Platyspondyly, Genu valgum, Broad ... |
OMIM:304150 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Short distal phalanx of finger, Generalized hirsutism, Thick... |
ORPHA:2963 |
| Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
| Schwartz-Jampel Syndrome, Type 1 |
|
High palate, Quadriceps muscle weakness, Congenital hip dislocation, Short neck, Platyspondyly, L... |
OMIM:255800 |
| Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Gen... |
OMIM:277950 |
| Lateral Meningocele Syndrome |
|
High palate, Kyphosis, Sclerosis of skull base, Inguinal hernia, Coarse hair, Short neck, Biconca... |
OMIM:130720 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Hip contracture, Advanced ossification of carpal bones, Irregular vertebral endplate... |
OMIM:618363 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Sialidosis Type 2 |
|
Kyphosis, Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Nephropathy, Osteopor... |
ORPHA:87876 |
| Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
| N-Acetylaspartate Deficiency |
|
Inguinal hernia |
OMIM:614063 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
| Gastric Volvulus, Intrathoracic |
|
Hiatus hernia, Volvulus |
OMIM:137210 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Flexion contracture, Micropenis, Inguinal hernia, Hypospadias, Facia... |
OMIM:301830 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Sparse hair, Absent eyebrow, Osteoporosis, Male hypogonadism, Absent eyelashes, Nail dystrophy, T... |
OMIM:618625 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Inguinal hernia, Finger clinodactyly, Osteoporosis, Supernumerary ribs, Cryptorchidism, Coxa valga |
ORPHA:2958 |
| Monosomy 5P |
|
High palate, Recurrent fractures, Inguinal hernia, Small hand, Short neck, Scoliosis, Abnormality... |
ORPHA:281 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Inguinal hernia, Adducted thumb, Cutis laxa, Congenital hip dislocation, Scoliosis, ... |
OMIM:219150 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment |
OMIM:127200 |
| Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
| Prieto Syndrome |
|
Inguinal hernia, 11 pairs of ribs, Osteoporosis, Clinodactyly, Radial deviation of finger, Crypto... |
OMIM:309610 |
| Mucolipidosis Type Iii |
|
Joint stiffness, Large iliac wing, Cleft palate, Inguinal hernia, Reduced bone mineral density, A... |
ORPHA:577 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Flexion contracture, Inguinal hernia, Excessive wrinkled skin, Osteopenia, Cutis lax... |
OMIM:614438 |
| Scarf Syndrome |
|
Diastasis recti, Low anterior hairline, Short sternum, Sparse hair, Inguinal hernia, Micropenis, ... |
OMIM:312830 |
| Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Inguinal hernia, Umbilical hernia |
ORPHA:1373 |
| Acrofacial Dysostosis, Catania Type |
|
Clinodactyly of the 5th finger, Inguinal hernia, Small hand, Hypospadias, Coarse hair, Abnormal h... |
ORPHA:1786 |
| Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Generalized hirsutism, Inguinal hernia, Abnormal hip bone morphology, Hypospadias, Abnormal hair ... |
ORPHA:2508 |
| Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Cryptorchidism, Sparse hair, Inguinal hernia |
ORPHA:1174 |
| Fetal Hydantoin Syndrome |
|
Short distal phalanx of finger, Cleft palate, Bifid scrotum, Coarse hair, Triphalangeal thumb, He... |
ORPHA:1912 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Inguinal hernia, Sparse axillary hair, Male pseudohermaphroditism, Abs... |
ORPHA:754 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
| Coffin-Lowry Syndrome |
|
High palate, Drumstick terminal phalanges, Coarse hair, Tapered finger, Rectal prolapse, Thick ey... |
OMIM:303600 |
| Hall-Riggs Syndrome |
|
Joint stiffness, Coarse hair, Platyspondyly, Brachydactyly, Scoliosis, Abnormal epiphysis morphol... |
ORPHA:2107 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment |
ORPHA:171844 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly hair, Alopecia, Hypergonadotropic hypogonadism, Micropenis, Woolly scalp hair, Decreased t... |
OMIM:601217 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
| Aminopterin Syndrome Sine Aminopterin |
|
High palate, Thoracic scoliosis, Joint contracture of the hand, Cleft palate, Inguinal hernia, Ar... |
OMIM:600325 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Coarse hair, Heparan sulfate excretion in urine, Genu valgum, Mucopolysacchariduria... |
ORPHA:581 |
| Antiphospholipid Syndrome, Familial |
|
Iritis, Retinal detachment, Retinal vasculitis, Central retinal artery occlusion, Vitritis |
OMIM:107320 |
| Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:79435 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
| Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
| Blue Rubber Bleb Nevus |
|
Volvulus, Intestinal bleeding, Rectal prolapse, Intussusception |
OMIM:112200 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Hepatomegaly, Elevated circulating a... |
OMIM:614727 |
| Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Multiple lipomas, Osteoporosis, Skeletal muscle atrophy, Limitation of j... |
ORPHA:3294 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Pallor, Platyspondyly, Hypopigmentation of hair, Osteoporosis, Albinism |
ORPHA:2786 |
| Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Alopecia, Osteoporosis, Increase... |
OMIM:136300 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Reduced bone mineral density, Coarse hair, Spina bifida occulta, Slender long bone, Hyperextensib... |
ORPHA:1185 |
| Rudiger Syndrome |
|
Bicornuate uterus, Inguinal hernia, Flexion contracture, Micropenis, Ovarian cyst, Ureterovesical... |
OMIM:268650 |
| Weaver Syndrome |
|
Hydrocele testis, Sparse hair, Prominent fingertip pads, Short fourth metatarsal, Flared humeral ... |
OMIM:277590 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Low anterior hairline, Primary amenorrhea, Short neck, Osteoporosis, Scoliosis, Joint laxity, Dor... |
OMIM:616033 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm |
OMIM:615113 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Pili torti, Abnormality of finger, Sparse hair, Sparse eyebrow, Coarse hair, S... |
ORPHA:113 |
| Lambert Syndrome |
|
Inguinal hernia |
OMIM:245550 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Carpal synostosis, Advanced ossification of carpal bones, Epiphyseal dysplasia, Kyphoscoliosis, S... |
OMIM:615349 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Hepatomegaly, Flexion contracture, Lack of skin elasticity, Scoliosis, Osteoporosis, Li... |
OMIM:615381 |
| Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Gastroesophageal reflux, High, narrow palate, Thick eyebrow, Spl... |
OMIM:616368 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis |
OMIM:615269 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporosis, Myopathy |
OMIM:618234 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hirsutism, Abnormal muscle fiber morphology, Joint contracture of the hand, Inguinal hernia, Cran... |
OMIM:175700 |
| Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Osteopenia, Oligomenorrhea, Menorrhagia, Osteoporosis, Hemorrhagic ovari... |
ORPHA:397685 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Kyphosis, Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Osteoporo... |
ORPHA:48431 |
| Ganglioneuroma |
|
Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Colorectal polyposis, Gastroin... |
ORPHA:251992 |
| Bazex Syndrome |
|
Pili torti, Sparse hair, Coarse hair, Trichorrhexis nodosa, Furrowed tongue, Joint hypermobility,... |
OMIM:301845 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Cutis laxa, Hypospadias, Elevated... |
OMIM:301045 |
| Noonan Syndrome |
|
High palate, Clinodactyly of the 5th finger, Hepatomegaly, Abnormal hair quantity, Hypogonadotrop... |
ORPHA:648 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Ankle flexion contracture, Sparse hair, Coarse hair |
OMIM:619985 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Hypertrichosis, Kyphoscoliosis, External genital hypoplasia, Facial hypertrichos... |
OMIM:600118 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Cleft palate, Inguinal hernia, Redundant skin, Joint hyperflexibility, Abnorma... |
ORPHA:1252 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation |
ORPHA:1259 |
| C Syndrome |
|
High palate, Dislocated radial head, Renal cortical cysts, Hepatomegaly, Cutis laxa, Scoliosis, F... |
OMIM:211750 |
| Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy |
OMIM:613767 |
| Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Chordee, Sparse hair, Proximal symphalangism of hands, Inguinal hernia, Hyperextensibility of the... |
OMIM:151050 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, El... |
ORPHA:79301 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Inguinal hernia, Interosseus muscle atrophy, Fiber type grouping, Thenar muscle atrophy, Prematur... |
OMIM:619903 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Osteoporosis, Hyperlordosis, Cryptorchidism, Myopathy |
ORPHA:408 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Osteopenia, Alopecia, Pr... |
ORPHA:2232 |
| Juvenile Polyposis Syndrome |
|
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... |
OMIM:174900 |
| Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
| Alpha-Mannosidosis |
|
Kyphosis, Narrow palate, Hepatomegaly, Macroglossia, Splenomegaly, Inguinal hernia, Short neck, S... |
ORPHA:61 |
| Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hypog... |
OMIM:235200 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Nail dysplasia, Osteopenia, Contracture of the proximal interphalangeal joint of the 3rd finger, ... |
OMIM:612394 |
| Anauxetic Dysplasia 3 |
|
Sparse scalp hair, Beaking of vertebral bodies, Metaphyseal cupping, Gastroesophageal reflux, Squ... |
OMIM:618853 |
| Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
| Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy |
ORPHA:250984 |
| Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Blind vagina, Inguinal hernia, Sparse axillary hair, Absent facial hair, Eleva... |
OMIM:300068 |
| Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
| Werner Syndrome |
|
Ovarian neoplasm, Lack of skin elasticity, Neoplasm of the small intestine, Lipodystrophy, Second... |
ORPHA:902 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Intussu... |
OMIM:175200 |
| Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Vertebral segmentation defect, Kyphosis, Lipoatrophy, Abnormal hair quantity, Cryptorchidism, Red... |
ORPHA:2617 |
| Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
| Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... |
ORPHA:215 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Kyphoscoliosis, Methioninuria, Pancreatitis, Brittle hair, Inguinal hernia, Arachnod... |
OMIM:236200 |
| Vogt-Koyanagi-Harada Disease |
|
Poliosis, Retinal detachment, Vitiligo, Premature graying of hair, Hypopigmented skin patches |
ORPHA:3437 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Camptodactyly... |
ORPHA:3409 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Inguinal hernia... |
OMIM:616809 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:158900 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Osteopenia, ... |
ORPHA:536471 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Posterior pituitary hypoplasia, Postaxial hand polydactyly, ... |
ORPHA:75389 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Kyphosis, Joint contracture of the hand, Inguinal hernia, Scoliosis, Joint contracture of the 5th... |
ORPHA:352490 |
| Ogden Syndrome |
|
Torticollis, High, narrow palate, Inguinal hernia, Cutis laxa, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:276432 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Hiatus hernia, Excessive wrinkled skin, Osteopenia, Scarring, Joint stiffness, Osteomalacia, Scol... |
ORPHA:1901 |
| Stickler Syndrome, Type Ii |
|
Retinal detachment, Abnormal vitreous humor morphology |
OMIM:604841 |
| Bladder Exstrophy |
|
Inguinal hernia, Intestinal malrotation, Bladder exstrophy, Omphalocele, Abnormality of the anus,... |
ORPHA:93930 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hypertrichosis, Hepatomegaly, Facial hypertrichosis, Hyperca... |
ORPHA:508 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Osteopenia, Fractures of t... |
ORPHA:319195 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Joint stiffness, Coxa vara, Coxa valga, Inguinal hernia, Avascular necrosis of the capital femora... |
ORPHA:1899 |
| Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
| Aarskog-Scott Syndrome |
|
Short palm, Clinodactyly of the 5th finger, Cryptorchidism, Cleft palate, Inguinal hernia, Abnorm... |
ORPHA:915 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Arachnodactyly, Platyspon... |
OMIM:614856 |
| Rafiq Syndrome |
|
Clinodactyly of the 5th finger, Joint hypermobility, Sparse eyebrow, Flexion contracture, Cutis l... |
OMIM:614202 |
| Bjornstad Syndrome |
|
Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th... |
OMIM:262000 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair |
OMIM:234030 |
| Norrie Disease |
|
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Retinal fold, Leukocoria, Retinal dysp... |
OMIM:310600 |
| Craniofrontonasal Dysplasia |
|
High palate, Abnormality of hair texture, Craniosynostosis, Down-sloping shoulders, Sandal gap, W... |
ORPHA:1520 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Cleft palate, External genital hypoplasia, Symphalangism affecting the phalanges... |
ORPHA:2658 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Rib fusion, Vertebral segmentation defect, Thick eyebrow, Cleft palate, Hemivertebrae... |
ORPHA:1394 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Inguinal hernia |
OMIM:619602 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
| Donnai-Barrow Syndrome |
|
Iris coloboma, Retinal detachment, Retinal dystrophy |
ORPHA:2143 |
| Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Inguinal hernia, Cleft palate, Micropenis, Multicystic kidney dysplasia, Congenital ... |
OMIM:300209 |
| Incontinentia Pigmenti |
|
Sparse hair, Alopecia, Hemivertebrae, Coarse hair, Breast aplasia, Onychogryposis, Scarring, Eryt... |
OMIM:308300 |
| Orofaciodigital Syndrome Type 1 |
|
High palate, Exocrine pancreatic insufficiency, Sparse hair, Cleft palate, Alopecia, Coarse hair,... |
ORPHA:2750 |
| Craniofaciofrontodigital Syndrome |
|
Hypertrichosis, Low anterior hairline, Gastroesophageal reflux, Macroglossia, Finger joint hyperm... |
ORPHA:363705 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
| Developmental And Epileptic Encephalopathy 73 |
|
Inguinal hernia, Hip dysplasia, Flexion contracture, Scoliosis |
OMIM:618379 |
| Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux |
OMIM:619793 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Inguinal hernia, Generalized joint laxity, Arachnodactyly, Soft skin, Palmoplantar cutis laxa, Sc... |
OMIM:130080 |
| Stickler Syndrome Type 1 |
|
Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90653 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Hypertrichosis, Hepatomegaly, Inguinal hernia, Splenomegaly, Micropenis, Pulmonary l... |
ORPHA:1655 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Cleft palate, Osteopenia, Primary amenorrhea, Secondary amenorrhea, Increased female l... |
ORPHA:432 |
| Multiple Sulfatase Deficiency |
|
Joint stiffness, Hepatomegaly, Thick eyebrow, Splenomegaly, Coarse hair, Broad hallux phalanx, Br... |
ORPHA:585 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Gastroesophageal reflux, Inguinal hernia, Tracheomalacia, Cutis laxa, Pylor... |
OMIM:613177 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses |
OMIM:264010 |
| 48,Xxyy Syndrome |
|
Infertility, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hypoplasia of penis, Cleft ... |
ORPHA:10 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Abnormality of the abdominal wall, Cleft palate, Craniosynostosis, Osteopenia, Metacarpophalangea... |
OMIM:245600 |
| Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
High palate, Alopecia, Osteopenia, Hammertoe, Ventral hernia, Phalangeal dislocation, Sandal gap,... |
ORPHA:536532 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Overlapping toe, Hepatomegaly, Cryptorchidism, Cleft palate, Micropenis, Coronal ... |
ORPHA:83617 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Nail dysplasia, Absent eyebrow, Cleft palate, Alopecia, Unilateral renal agenesis, Inguinal herni... |
OMIM:308205 |
| Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Coxa vara, Aplasia/Hypoplasia of the tibia, Inguinal h... |
ORPHA:1988 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Hepatomegaly, Anterior beaking of lumbar verte... |
OMIM:253000 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Congenital diaphragmatic hernia, Cleft palat... |
ORPHA:2311 |
| Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Slender finger, Cleft palate, Craniosynostosis, Malrotation of small bowel, Tapered ... |
ORPHA:2953 |
| Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Osteoporosis, Hip subluxation, Hip dislocation, Skeletal muscle atrophy |
OMIM:256720 |
| Zimmermann-Laband Syndrome 3 |
|
High palate, Hypertrichosis, Absent distal phalanx of the 2nd toe, Facial hypertrichosis, Long ey... |
OMIM:618658 |
| Witkop Syndrome |
|
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail |
OMIM:189500 |
| Retinitis Pigmentosa 83 |
|
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... |
OMIM:618173 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hypertrichosis, Hepatomegaly, Cleft palate, Splenomegaly, Micropenis, Pulmonary lymp... |
OMIM:235255 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Hepatomegaly, Coxa valga, Inguinal h... |
OMIM:253010 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Cleft palate, Abnormality of the abdominal organs, Craniosynostosis, Osteope... |
ORPHA:2409 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Hirsutism, Hepatomegaly, Spinal rigidity, Flexion contracture, Splenomegaly, Skeletal musc... |
OMIM:613327 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel... |
ORPHA:2891 |
| Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
| Dyskeratosis Congenita |
|
Hepatomegaly, Sparse hair, Alopecia, Hepatic failure, Tracheoesophageal fistula, Bone marrow hypo... |
ORPHA:1775 |
| Menkes Disease |
|
Metaphyseal spurs, Sparse hair, Brittle hair, Alopecia, Cutis laxa, Metaphyseal widening, Osteopo... |
OMIM:309400 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Craniosynostosis, Rocker bottom foot, Overlapping fingers, Postaxial hand polydacty... |
OMIM:301056 |
| Hajdu-Cheney Syndrome |
|
High palate, Short nail, Osteopenia, Foot acroosteolysis, Short neck, Biconcave vertebral bodies,... |
OMIM:102500 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Exudative retinopathy, Retinal detachment, Abnormal vitreous humor m... |
ORPHA:2788 |
| Eec Syndrome |
|
Cleft palate, Sparse eyebrow, Coarse hair, Thick eyebrow, Split hand, Nail pits, Vesicoureteral r... |
ORPHA:1896 |
| Classical Ehlers-Danlos Syndrome |
|
Hiatus hernia, Osteopenia, Phalangeal dislocation, Rectal prolapse, Umbilical hernia, Cigarette-p... |
ORPHA:287 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
OMIM:309350 |
| Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
| Coffin-Siris Syndrome 2 |
|
High palate, Sparse scalp hair, Hirsutism, Low anterior hairline, Thick eyebrow, Short distal pha... |
OMIM:614607 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Williams Syndrome |
|
Cholelithiasis, Osteopenia, Tracheoesophageal fistula, Down-sloping shoulders, Radioulnar synosto... |
ORPHA:904 |
| Popov-Chang syndrome |
|
Clinodactyly of the 5th finger, Gastroesophageal reflux, Lymphopenia, Small hand, Coarse hair, Sc... |
OMIM:618428 |
| Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Inguinal hernia, Cleft palate, Narrow greater sciatic notch,... |
OMIM:184250 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Sparse axillary hair, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea,... |
OMIM:146110 |
| Shashi-Pena Syndrome |
|
Kyphosis, Highly arched eyebrow, Osteoporosis, Scoliosis |
OMIM:617190 |
| Whistling Face Syndrome, Recessive Form |
|
High palate, Kyphoscoliosis, Inguinal hernia, Short neck, Camptodactyly, Ulnar deviation of finge... |
OMIM:277720 |
| Bohring-Opitz Syndrome |
|
Hypertrichosis, Tapered finger, Sacral dimple, Flexion contracture, Bilateral cleft palate, Vesic... |
OMIM:605039 |
| 17P13.3 Microduplication Syndrome |
|
High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Inguinal hernia, Congenital hip... |
ORPHA:217385 |
| Craniolenticulosutural Dysplasia |
|
High palate, Gastroesophageal reflux, Sparse hair, Cleft palate, Brittle hair, Osteopenia, Coarse... |
OMIM:607812 |
| X-Linked Intellectual Disability, Cabezas Type |
|
High palate, Kyphosis, Clinodactyly of the 5th finger, Hypoplasia of penis, Inguinal hernia, Smal... |
ORPHA:85293 |
| De Barsy Syndrome |
|
High palate, Coxa vara, Kyphoscoliosis, Sparse hair, Inguinal hernia, Generalized joint laxity, A... |
ORPHA:2962 |
| Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... |
OMIM:312600 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Clinodactyly of the 5th finger, Thick eyebrow, Inguinal hernia, Scoliosis, Arthrogrypos... |
OMIM:615834 |
| Costello Syndrome |
|
Hypoplastic toenails, Narrow palate, Gastroesophageal reflux, Woolly hair, Macroglossia, Lack of ... |
ORPHA:3071 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... |
OMIM:145350 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Re... |
ORPHA:424016 |
| Ruvalcaba Syndrome |
|
Kyphosis, Cryptorchidism, Inguinal hernia, Small hand, Scoliosis, Short phalanx of finger, Limite... |
OMIM:180870 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Iris coloboma, Retinal detachment |
OMIM:615145 |
| Fontaine Progeroid Syndrome |
|
Absent nipple, Reduced subcutaneous adipose tissue, Hypertrichosis, Craniosynostosis, Coarse hair... |
OMIM:612289 |
| Isolated Splenogonadal Fusion |
|
Hydrocele testis, Inguinal hernia, Abnormal penis morphology, Abnormality of the scrotum, Unilate... |
ORPHA:457083 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Broad first metatarsal, Congenital, generalized hypertr... |
OMIM:239850 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Joint hypermobility, Soft, doughy skin, Generalized joint laxity, Soft skin, Congenital hip dislo... |
OMIM:130010 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Anal atresia, Sparse hair, Redundant skin, Abnormal hair pattern, Sparse lower eyelashes, Distich... |
ORPHA:1807 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Cutis laxa, Short neck, Brachydactyly, Syndactyly, Sandal gap, Fine hair |
OMIM:614800 |
| Aarskog-Scott Syndrome |
|
Testicular atrophy, Cleft palate, Short neck, Widow's peak, Shawl scrotum, Bilateral cryptorchidi... |
OMIM:305400 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Inguinal hernia |
OMIM:250951 |
| Radiation Proctitis |
|
Rectal fistula, Abnormal gastrointestinal vascular morphology, Abnormal rectum morphology, Hemato... |
ORPHA:70475 |
| Hurler Syndrome |
|
Hepatomegaly, Calvarial hyperostosis, Short neck, Heparan sulfate excretion in urine, Hypoplasia ... |
OMIM:607014 |
| Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Inguinal hernia, Umbilical hernia |
OMIM:613544 |
| Rahman Syndrome |
|
Kyphoscoliosis, Cryptorchidism, Redundant skin, Camptodactyly, High anterior hairline |
OMIM:617537 |
| Hurler-Scheie Syndrome |
|
Joint stiffness, Hirsutism, Kyphosis, Hepatomegaly, Inguinal hernia, Splenomegaly, Contracture of... |
OMIM:607015 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Inguinal hernia |
OMIM:609141 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
| Galloway-Mowat Syndrome 9 |
|
Gastroesophageal reflux, Hiatus hernia, Diffuse mesangial sclerosis, Coarse hair, Focal segmental... |
OMIM:619603 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... |
ORPHA:79434 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Osteopenia, Cirrhosis, Hepatocellular carcinoma... |
ORPHA:369 |
| Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Omphalocele |
OMIM:258320 |
| Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Congenital hip dislocation, Hypogonadism,... |
ORPHA:96170 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Hypoplasia of penis, High, narrow palate, Inguinal he... |
ORPHA:2849 |
| Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
| Persistent Müllerian Duct Syndrome |
|
Inguinal hernia |
ORPHA:2856 |
| Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment |
OMIM:615181 |
| Ruvalcaba Syndrome |
|
Kyphosis, Generalized hirsutism, Clinodactyly of the 5th finger, Inguinal hernia, Small hand, Con... |
ORPHA:3121 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Nephronophthisis, ... |
OMIM:266920 |
| Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
| Williams-Beuren Syndrome |
|
Osteopenia, Down-sloping shoulders, Radioulnar synostosis, Rectal prolapse, Umbilical hernia, Col... |
OMIM:194050 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
