| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
| Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... |
OMIM:177650 |
| Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
| Microphthalmia/Coloboma 10 |
|
Iris coloboma, Microcoria, Optic pit, Chorioretinal coloboma |
OMIM:616428 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Uveal Melanoma |
|
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... |
ORPHA:39044 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebellar ataxia |
ORPHA:247815 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis |
OMIM:611498 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... |
ORPHA:284454 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy, Iris cyst |
OMIM:620086 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... |
OMIM:106210 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Somatic sensory dysfunction |
ORPHA:101082 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Microcoria, Congenital |
|
Miosis, Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... |
OMIM:602482 |
| Neovascular Glaucoma |
|
Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropion, Retino... |
ORPHA:94058 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Coach Syndrome 3 |
|
Nephronophthisis, Portal fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int... |
OMIM:619113 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... |
OMIM:616217 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... |
OMIM:609583 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology, Abnormal retinal morphology |
ORPHA:170 |
| Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c... |
OMIM:615862 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... |
ORPHA:54 |
| Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... |
OMIM:619902 |
| Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibr... |
ORPHA:3156 |
| Miller Fisher Syndrome |
|
Mydriasis, Anisocoria, Paresthesia, Ataxia |
ORPHA:98919 |
| Coats Disease |
|
Leukocoria, Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria |
OMIM:606996 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
| Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
| Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:615382 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Astigmatism, Ectopia pupillae |
OMIM:618727 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver |
ORPHA:140976 |
| Microphthalmia/Coloboma 7 |
|
Inferior chorioretinal coloboma, Iris coloboma |
OMIM:614497 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat... |
OMIM:137920 |
| Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... |
ORPHA:263479 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... |
OMIM:180500 |
| Alexander Disease |
|
Microcoria, Dysmetria, Ataxia |
OMIM:203450 |
| Distal Deletion 6P |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... |
ORPHA:96125 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Nephronophthisis 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts |
OMIM:613824 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebro... |
ORPHA:202 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Ectopia pupillae, Macular atrophy, Abnormality of retinal pigmentation, Cone/co... |
ORPHA:85167 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Serotonin Syndrome |
|
Mydriasis, Tremor |
ORPHA:43116 |
| Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
| Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
| Norrie Disease |
|
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... |
OMIM:310600 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Abnormality of macular pigmentation, Optic disc coloboma, Ectopia pupillae, Retinal thinning, Mac... |
OMIM:608940 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... |
ORPHA:2891 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... |
OMIM:604387 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... |
OMIM:619649 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Hec Syndrome |
|
Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract |
ORPHA:2119 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Infant Botulism |
|
Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Tremor |
ORPHA:66633 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... |
OMIM:610202 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc... |
OMIM:603278 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... |
OMIM:221900 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
| Phacoanaphylactic Uveitis |
|
Posterior synechiae of the anterior chamber, Corneal keratic precipitates, Pseudophakia, Abnormal... |
ORPHA:209959 |
| Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Coats Disease |
|
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... |
ORPHA:190 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
| Jeune Syndrome |
|
Nephropathy, Abnormality of the liver, Nephronophthisis, Renal insufficiency |
ORPHA:474 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pupillae, Retinal ar... |
OMIM:175780 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis, Chorea, Tremor, Ataxia, Dystonia, Choreoathetosis |
ORPHA:2131 |
| Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
| Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:616629 |
| Smooth Muscle Dysfunction Syndrome |
|
Mydriasis, Retinal infarction |
OMIM:613834 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Reduced renal corticomedullary differentiation, Splenomegaly |
OMIM:618541 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... |
ORPHA:189 |
| Nephronophthisis 11 |
|
Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kid... |
OMIM:613550 |
| Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Dysesthesia, Ataxia, Anisocoria, Sensory ataxia, Impaired proprioception |
ORPHA:79138 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... |
OMIM:616307 |
| Joubert Syndrome 3 |
|
Highly arched eyebrow, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Acroparesthesia, Impaired vibration sensation in the lower limbs, Abnormal pupil morphology, Impa... |
ORPHA:90658 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Hawkinsinuria |
|
Sparse hair, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Fine hair |
ORPHA:2118 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Splenomegaly, Hepatomegaly |
OMIM:615630 |
| Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pu... |
ORPHA:91495 |
| Bilateral Acute Depigmentation Of The Iris |
|
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... |
ORPHA:69736 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... |
OMIM:266900 |
| Joubert Syndrome 7 |
|
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611560 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Juvenile Glaucoma |
|
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... |
ORPHA:98977 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cys... |
OMIM:216360 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis |
OMIM:606995 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Mydriasis, Optic atrophy |
OMIM:259720 |
| Arachnoid Cyst |
|
Mydriasis, Paresthesia, Distal sensory impairment |
ORPHA:2356 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Renal dysplasia |
OMIM:616733 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Retinal detachment |
OMIM:219250 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Abnormality iris morphology |
ORPHA:1617 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails |
ORPHA:500166 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante... |
ORPHA:67042 |
| Hyperekplexia 2 |
|
Astigmatism, Exaggerated startle response |
OMIM:614619 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... |
ORPHA:2889 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... |
ORPHA:231736 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae |
OMIM:618223 |
| Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
| Short Syndrome |
|
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... |
ORPHA:3163 |
| Cranioectodermal Dysplasia 3 |
|
Short nail, Nephronophthisis, Fine hair, Stage 5 chronic kidney disease, Cirrhosis, Broad nail, S... |
OMIM:614099 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair |
OMIM:158000 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu... |
ORPHA:439232 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Optic atrophy, Mydriasis, Optic nerve compression, Optic neuropathy |
OMIM:619727 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Familial Dysautonomia |
|
Ataxia, Optic atrophy, Impaired pain sensation, Abnormal pupil morphology, Heterochromia iridis, ... |
ORPHA:1764 |
| Distal Duplication 6P |
|
Renal hypoplasia, Abnormality of the urinary system, Fine hair, Hydronephrosis, Abnormal hair qua... |
ORPHA:1745 |
| Scorpion Envenomation |
|
Mydriasis, Paresthesia, Tremor, Ataxia, Miosis |
ORPHA:466677 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Malformation of the hepatic ductal plate, Renal hypoplasia, Hepatic fibro... |
ORPHA:84081 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... |
OMIM:603860 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Cocaine Intoxication |
|
Mydriasis, Tremor |
ORPHA:90068 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Abnormal optic nerve morphology, Impaired pain sensation, Head tremor, Positive Ro... |
ORPHA:99949 |
| Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... |
ORPHA:573 |
| Netherton Syndrome |
|
Aminoaciduria, Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Sparse ... |
ORPHA:634 |
| Retinitis Pigmentosa 97 |
|
Macular degeneration, Rod-cone dystrophy, Iris atrophy |
OMIM:620422 |
| Gracile Bone Dysplasia |
|
Micropenis, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Abnormal pupil shape, Slow pupillary light response, Torticollis, Miosis, Anisocoria, O... |
ORPHA:45358 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Chorioretinal coloboma, Corneal scarring, Miosis, Retinal detachment, Macular atrophy, ... |
OMIM:212550 |
| Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Hydronephrosis, Hypoplastic spleen, Pe... |
OMIM:601186 |
| Proteus-Like Syndrome |
|
Cataract, Abnormal pupil morphology, Heterochromia iridis, Retinal detachment, Limbal dermoid |
ORPHA:2969 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia, Alopecia, Coarse hair, Nail dystrophy, Brittle hair |
ORPHA:75389 |
| Joubert Syndrome 6 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis |
OMIM:610688 |
| Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair |
OMIM:617252 |
| Weill-Marchesani Syndrome 4 |
|
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... |
OMIM:613195 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... |
ORPHA:2228 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Rhyns Syndrome |
|
Chronic kidney disease, Nephronophthisis, Renal insufficiency |
OMIM:602152 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology |
ORPHA:79243 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
| Weaver Syndrome |
|
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Thin nail, Deep-set nails, Hypop... |
ORPHA:3447 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Anisocoria, Ataxia |
OMIM:231550 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Pos... |
OMIM:604229 |
| Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... |
OMIM:604379 |
| Craniofrontonasal Dysplasia |
|
Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Hypospadias,... |
ORPHA:1520 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Fine hair, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias... |
OMIM:619428 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Mirage Syndrome |
|
Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Hypoplastic spleen, Th... |
OMIM:617053 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Microcornea, Chorioretinal coloboma, Optic disc coloboma, Macular atrophy, Flat cornea, Shallow a... |
OMIM:602499 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Re... |
OMIM:208085 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
| Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:234030 |
| Mucopolysaccharidosis, Type Iiib |
|
Coarse hair, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Hepatomegaly, Synophrys |
OMIM:252920 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Coarse hair, Long eye... |
OMIM:617303 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Fine hair, Abnormality of the bladder, Hematuria, Sparse hair |
ORPHA:1839 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... |
OMIM:129500 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair |
OMIM:129490 |
| Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Increased urinary sulfite level, Decreased urinary sulfate, Fine hair |
OMIM:272300 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal hair morphology, Abnormal fingernail morphology, Abnormal toenail m... |
ORPHA:248 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... |
OMIM:612109 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Mucopolysaccharidosis, Type Iiia |
|
Coarse hair, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Hepatomegaly, Synophrys |
OMIM:252900 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Thin eyebrow,... |
ORPHA:1433 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair |
OMIM:616099 |
| Naxos Disease |
|
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair |
ORPHA:34217 |
| Trichodental Dysplasia |
|
Sparse hair, Slow-growing hair, Fine hair, Brittle hair |
OMIM:601453 |
| Hypotrichosis 12 |
|
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... |
OMIM:615885 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,... |
OMIM:300953 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Hydroureter, Curly hair |
OMIM:616559 |
| Knobloch Syndrome 1 |
|
Ataxia, Band keratopathy, Vitreoretinopathy, Attenuation of retinal blood vessels, Peripapillary ... |
OMIM:267750 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Sparse hair, Thrombocytopenia, Curly hair |
OMIM:619980 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal... |
OMIM:208540 |
| Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi... |
OMIM:243910 |
| Pierson Syndrome |
|
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... |
OMIM:609049 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... |
OMIM:613573 |
| Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Coarse hair, Stage 5 chronic kid... |
OMIM:619603 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Cervical lymphadenopathy, Hematuria, Proteinuria, Lymphadenopathy, Coombs-positive hem... |
OMIM:614034 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... |
OMIM:120330 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Mucopolysaccharidosis, Type Iiic |
|
Coarse hair, Hypertrichosis, Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Hepatom... |
OMIM:252930 |
| Duane Retraction Syndrome |
|
Blepharospasm, Microcornea, Optic disc hypoplasia, Chorioretinal coloboma, Central heterochromia,... |
ORPHA:233 |
| Hypotrichosis 6 |
|
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair |
OMIM:607903 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... |
ORPHA:113 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair |
ORPHA:1882 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocy... |
OMIM:616084 |
| Witkop Syndrome |
|
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... |
OMIM:189500 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia, Sparse hair, Fine hair |
OMIM:616817 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia universalis, Alopecia, Cholelithiasis, Nephrocalcinosis, Nail dystrophy, Chronic active ... |
OMIM:240300 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... |
OMIM:614929 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Iris coloboma, Ectopia pupillae |
OMIM:194190 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Abnormal renal corticomedullary differentiation, Thrombocytopenia |
OMIM:617397 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal hair morphology, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:3082 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Hepatic fibrosis, Fine hair, Nail dysplasia, Renal cyst, Aplasia/H... |
OMIM:614091 |
| Intermediate Uveitis |
|
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Epiretina... |
ORPHA:279914 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... |
ORPHA:2890 |
| Woolly Hair, Autosomal Dominant |
|
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... |
OMIM:194300 |
| Retinoblastoma |
|
Retinoblastoma, Vitreous hemorrhage, Leukocoria, Retinal calcification, Vitritis |
OMIM:180200 |
| Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Iris coloboma |
OMIM:235730 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Degcags Syndrome |
|
Chronic kidney disease, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Pancytopenia,... |
OMIM:619488 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Fair hair, Cholestasis, Hepatosplenomega... |
OMIM:266920 |
| Pearson Syndrome |
|
Bone marrow hypocellularity, Glycosuria, Exocrine pancreatic insufficiency, Pancytopenia, Abnorma... |
ORPHA:699 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Impaired vibration sensation in the lower limbs, Exaggerated st... |
ORPHA:320406 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... |
OMIM:615415 |
| Tonne-Kalscheuer Syndrome |
|
Small nail, Fine hair, Concave nail, Micropenis, Hypospadias |
OMIM:300978 |
| Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
| Revesz Syndrome |
|
Ataxia, Leukocoria, Exudative retinopathy, Megalocornea |
OMIM:268130 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cataract, Tremor, Exaggerated startle response |
OMIM:620327 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... |
OMIM:602400 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Hydronephrosis, Fine hair |
ORPHA:3079 |
| Trichohepatoenteric Syndrome 2 |
|
Sparse hair, Trichorrhexis nodosa, Chronic hepatitis, Cirrhosis, Uncombable hair, Brittle hair, H... |
OMIM:614602 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Absent eyebrow, Fine hair, Curly hair |
OMIM:615278 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Sparse hair, Small nail, Trichorrhexis nodosa, Nail dystrophy, Concave nail, Sparse eyelashes, Na... |
OMIM:234050 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Hydronephrosis, Patchy alopecia, Abnormal hair pat... |
ORPHA:35173 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Fine hair, Brittle hair |
ORPHA:1573 |
| Superficial Siderosis |
|
Impaired pain sensation, Impaired temperature sensation, Paresthesia, Limb ataxia, Dysmetria, Pro... |
ORPHA:247245 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Thick eyebrow, Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
| Palmoplantar Keratoderma, Epidermolytic, 2 |
|
Curly hair |
OMIM:620411 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair, Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly |
OMIM:605309 |
| Trichinellosis |
|
Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Anisoc... |
ORPHA:863 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Somatic sensory dysfunction, Ataxia |
OMIM:615510 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Chorea, Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309246 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... |
OMIM:608643 |
| Congenital Primary Aphakia |
|
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... |
ORPHA:83461 |
| Joubert Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... |
OMIM:610188 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:104100 |
| Chops Syndrome |
|
Coarse hair, Horseshoe kidney, Long eyelashes, Thick eyebrow, Vesicoureteral reflux, Splenomegaly... |
OMIM:616368 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Lymphadenopathy, Hypopigmentation ... |
ORPHA:2221 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... |
OMIM:261900 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic atrophy, Cataract, Abnormality iris morphology, Megalocornea, Retinal detachment, Optic ner... |
ORPHA:370959 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Exaggerated startle response |
OMIM:609541 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Fine hair, Premature graying of hair, Pan... |
OMIM:613990 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Coarse hair, Fine hair, Lymphopenia, Pancytopenia, Stage 5 ch... |
OMIM:242900 |
| Joubert Syndrome 2 |
|
Renal cyst, Nephronophthisis, Renal insufficiency |
OMIM:608091 |
| Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Abnormality of hair texture, Ureteral d... |
ORPHA:96169 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair |
OMIM:617392 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, High anterior hairline, Hydronephrosis, Thrombocytopenia, Curly hair, Ureteral du... |
OMIM:610733 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Persistent pupillary membrane, Peters anomaly, Buphthalmos |
OMIM:613150 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Micropenis, Hepatomegaly, Sparse eyebrow, Brittle hair |
OMIM:618810 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Renal hypoplasia, Trichorrhexis nodosa, Lymphopenia, Abnormality of the liver, ... |
ORPHA:84064 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Persistent pupillary membrane |
OMIM:257850 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cataract, Microcornea, Optic atrophy, Impaired pain sensation, Ectopia pupillae, Retinal coloboma... |
ORPHA:261552 |
| Rapp-Hodgkin Syndrome |
|
Sparse hair, Sparse eyebrow, Decreased number of sweat glands, Fine hair, Supernumerary nipple, S... |
OMIM:129400 |
| Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
| Retinoblastoma |
|
Hypopyon, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Abnormality of retinal pigmen... |
ORPHA:790 |
| Trichohepatoenteric Syndrome 1 |
|
Sparse hair, Galactosuria, Hepatic fibrosis, Fine hair, Trichorrhexis nodosa, Cholestasis, Thromb... |
OMIM:222470 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:211390 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
| Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow, Splenomegaly, Mucopolysacchariduria, Hepatomegaly |
ORPHA:585 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Multicystic kidney dysplasia, Sparse lateral eyebrow, Reduced renal corticomedullary differentiat... |
OMIM:277000 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Abnormality of hair texture, Nail dysplasia, Nail dystrophy |
OMIM:601957 |
| Cornelia De Lange Syndrome 1 |
|
Highly arched eyebrow, Renal hypoplasia, Long eyelashes, Curly eyelashes, Vesicoureteral reflux, ... |
OMIM:122470 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes |
OMIM:615896 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys |
ORPHA:1021 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| 19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas... |
ORPHA:217346 |
| Trisomy 20P |
|
Highly arched eyebrow, Coarse hair, Abnormality of the ureter, Thick eyebrow, Low anterior hairli... |
ORPHA:261318 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... |
ORPHA:731 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma |
OMIM:301845 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Non-caseating epithelioid cell granulomatosis, Alopecia, Thymoma, Aplasia/Hypoplasia of the splee... |
ORPHA:227990 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... |
OMIM:602522 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... |
OMIM:600740 |
| Neuhauser Syndrome |
|
Hypoplasia of the iris, Megalocornea, Iridodonesis, Retinal detachment, Ataxia, Iris transillumin... |
OMIM:249310 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair |
OMIM:619691 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Ataxia, Optic atrophy, Exaggerated startle response |
OMIM:616881 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Exaggerated startle response |
OMIM:618598 |
| Norrie Disease |
|
Cataract, Optic atrophy, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Abnor... |
ORPHA:649 |
| Hypotrichosis Simplex Of The Scalp |
|
Slow-growing scalp hair, Sparse scalp hair, Alopecia of scalp, Fine hair |
ORPHA:90368 |
| Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Long eyelashes, Fine hair, High anterior hairline |
ORPHA:231137 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... |
OMIM:219730 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Brittle hair, Coarse hair |
ORPHA:1883 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response |
OMIM:618056 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Coarse hair |
OMIM:616390 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Sparse scalp hair, Fine hair, Multicystic kidney dysplasia |
ORPHA:85201 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decreased mean co... |
OMIM:616943 |
| Progeroid Syndrome, Petty Type |
|
Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,... |
ORPHA:2963 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... |
ORPHA:2479 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Alopecia, Brittle hair |
ORPHA:50812 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Tremor, Iris atrophy |
OMIM:146500 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Hematuria, Nail dysplasia... |
OMIM:158310 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hypospadias, Fine hair |
ORPHA:363686 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Horizontal eyebrow, Widow's peak, Fine hair |
OMIM:615828 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Uncombable hair |
ORPHA:1264 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Cherry red spot of the macula |
OMIM:272800 |
| Mosaic Trisomy 9 |
|
Small nail, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Asplenia, Hypoplasia of penis... |
ORPHA:99776 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Non-caseating epithelioid cell granulomatosis, Alopecia, Thymoma, Aplasia/Hypoplasia of the splee... |
ORPHA:227982 |
| Peeling Skin Syndrome 1 |
|
Eosinophilia, Onycholysis, Nail dystrophy, Brittle hair |
OMIM:270300 |
| Eec Syndrome |
|
Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Vesicoureteral reflux, Nail dystrophy, Ren... |
ORPHA:1896 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Sparse eyebrow, Fine hair, Decreased glomerular filtration ra... |
OMIM:614748 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Homocystinuria, Hepatic steatosis, Pancreatitis, Brittle hair, Methioninuria |
OMIM:236200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Cataract, Retinal detachment, Exaggerated startle response, Retinal dysplasia |
OMIM:253800 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| 1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Curly hair |
ORPHA:457485 |
| Acrogeria |
|
Fine hair |
ORPHA:2500 |
| Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia, Low posterior hairline, Curly hair, Long eyebrows, Sparse hair |
OMIM:613224 |
| Tuberous Sclerosis 2 |
|
Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Subungual fibromas, Renal cell ... |
OMIM:613254 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... |
ORPHA:163654 |
| Koolen-De Vries Syndrome |
|
Fair hair, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Abnormality... |
OMIM:610443 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Chorea, Exaggerated startle response |
OMIM:272750 |
| Acrofacial Dysostosis, Catania Type |
|
Abnormal hair pattern, Coarse hair, Hypospadias |
ORPHA:1786 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Fine hair, Oroticaciduria, Leukopenia, Stage 5 c... |
OMIM:222700 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Retinal detachment |
ORPHA:1556 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Hepatic fibrosis, Dry hair, Trichorrhexis nodosa, Oroticaciduria, Brittle hair, He... |
OMIM:207900 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Optic nerve hypoplasia, Exaggerated startle response |
OMIM:617864 |
| Cardiofaciocutaneous Syndrome |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Low posterior hairline,... |
ORPHA:1340 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Ritscher-Schinzel Syndrome 4 |
|
Micropenis, Curly hair |
OMIM:619435 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Sparse hair, Stage 5 chronic kidney disease, Brittle hair |
OMIM:608612 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Cherry red spot of the macula |
ORPHA:309155 |
| Onychotrichodysplasia And Neutropenia |
|
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, L... |
OMIM:258360 |
| Copper Deficiency, Familial Benign |
|
Anemia, Early balding, Curly hair |
OMIM:121270 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Curly hair, Sparse hair, Synophrys |
OMIM:620075 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Cardiofaciocutaneous Syndrome 4 |
|
Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair |
OMIM:615280 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Fine hair, Supernumerary nipple, Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:1812 |
| Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis, Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Sparse eyebrow, Fine hair, Supernumerary nipple, Long eyelashes, Hy... |
ORPHA:261349 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Synophrys, Coarse hair, Curly hair |
OMIM:616351 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Woolly hair, Nail dystrophy, Fragile nails |
OMIM:615821 |
| Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Abnormality of hair texture, Coarse hair, Brittle hair |
OMIM:219200 |
| Trichothiodystrophy 1, Photosensitive |
|
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P... |
OMIM:601675 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy |
OMIM:115250 |
| Pachyonychia Congenita 2 |
|
Sparse eyebrow, Dry hair, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse scalp ... |
OMIM:167210 |
| Netherton Syndrome |
|
Brittle scalp hair, Sparse eyebrow, Hypereosinophilia, Brittle hair, Sparse scalp hair |
OMIM:256500 |
| Noonan Syndrome 5 |
|
Sparse eyebrow, Small nail, Fine hair, Curly hair |
OMIM:611553 |
| Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Absent eyelashes, Low posterior hairline, Hydronephrosis, Absent eyebrow, Slow-grow... |
OMIM:115150 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Menkes Disease |
|
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