| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
| Anterior Segment Dysgenesis 3 |
|
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... |
OMIM:601631 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... |
OMIM:225200 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Optic pit, Chorioretinal coloboma, Iris coloboma, Microcoria |
OMIM:616428 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Retinal detachment, Persistent pupillary membrane |
OMIM:620253 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Ectopia pupillae, Corneal guttata, Keratoconus, Corneal dystrophy |
OMIM:609141 |
| Iridocorneal Endothelial Syndrome |
|
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... |
ORPHA:64734 |
| Uveal Melanoma |
|
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Retinal detachment, Vitreous h... |
ORPHA:39044 |
| Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
| Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Pi... |
ORPHA:284454 |
| Posterior Polymorphous Corneal Dystrophy |
|
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... |
ORPHA:98973 |
| Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia |
ORPHA:247815 |
| Oligomeganephronia |
|
Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtrati... |
ORPHA:2260 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
| Aniridia 1 |
|
Cataract, Ectopia pupillae, Hypoplasia of the fovea, Ectopia lentis, Retinal vascular tortuosity,... |
OMIM:106210 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
| Coach Syndrome 3 |
|
Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Anemia, Renal... |
OMIM:619113 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... |
OMIM:616217 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... |
OMIM:614377 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
| Witkop Syndrome |
|
Nail pits, Ridged nail, Fine hair, Concave nail, Small nail, Sparse hair |
OMIM:189500 |
| Nephronophthisis 18 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Cholestasis,... |
OMIM:615862 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver |
ORPHA:140976 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... |
OMIM:619902 |
| Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney dis... |
ORPHA:3156 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613824 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M... |
OMIM:617641 |
| Senior-Loken Syndrome 4 |
|
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease, Anemia |
OMIM:606996 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
| Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
| Hypotrichosis 4 |
|
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair |
OMIM:146550 |
| Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... |
OMIM:615382 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Cherubism |
|
Optic neuropathy, Marcus Gunn pupil, Macular scar |
OMIM:118400 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Gly... |
OMIM:614817 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... |
OMIM:602482 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Multipl... |
OMIM:137920 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Microcoria, Congenital |
|
Hypoplasia of the iris dilator muscle, Miosis, Microcoria |
OMIM:156600 |
| Ringed Hair Disease |
|
Fine hair, Abnormal hair pattern |
ORPHA:169 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Somatic sensory dysfunction |
ORPHA:101082 |
| Crandall Syndrome |
|
Sparse body hair, Fine hair, Brittle hair, Alopecia, Hypoplasia of penis, Aplasia/Hypoplasia of t... |
ORPHA:202 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Pili torti, Abnormality of hair te... |
ORPHA:2891 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:256100 |
| Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Retinal detachment, ... |
OMIM:309300 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Anemia, Renal corticomedullary cysts, Neph... |
OMIM:606966 |
| Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal macular morphology, Iris hypopigmentation, Astigmatism, Abnorma... |
ORPHA:54 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
| Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
| Nephronophthisis 3 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... |
OMIM:604387 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperechogenic kidneys, Proteinuria, Stage 5 chronic kidney disease, Anemia, Reduced renal cortic... |
OMIM:603278 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Astigmatism, Optic atrophy, Ectopia pupillae |
OMIM:618727 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology, Abnormal retinal morphology |
ORPHA:170 |
| Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Ab... |
ORPHA:85167 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia... |
OMIM:180500 |
| Distal Deletion 6P |
|
Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia... |
ORPHA:96125 |
| Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Jeune Syndrome |
|
Renal insufficiency, Nephropathy, Nephronophthisis, Abnormality of the liver |
ORPHA:474 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment, Leukocoria |
OMIM:300216 |
| Serotonin Syndrome |
|
Tremor, Mydriasis |
ORPHA:43116 |
| Alexander Disease |
|
Ataxia, Microcoria, Dysmetria |
OMIM:203450 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis |
OMIM:614464 |
| Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Cholestasis, Hepatic fibrosis, Neph... |
OMIM:616629 |
| Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
| Norrie Disease |
|
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hypoplasia of... |
OMIM:310600 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Hypopigmentation of hair, Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Hidrotic Ectodermal Dysplasia |
|
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... |
ORPHA:189 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Hawkinsinuria |
|
Sparse hair, Fine hair, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria |
ORPHA:2118 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613550 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Ectopia pupillae, Microcornea |
OMIM:615877 |
| Infant Botulism |
|
Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Iris coloboma, Uveitis, Buphthalmos, Persistent pupillary membrane, Shallow anterior ch... |
OMIM:221900 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ectopia pupillae, Retinal hemorrhage, Limb dystonia, Peripapillary atrophy, Hypopigmentation of t... |
OMIM:175780 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Stage 5 chronic kidney disease, Nephronophthisis, Glomerular subepithe... |
OMIM:616307 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Cholestasis, Hepatic fibrosis, Hepatomegaly, Nephronophthisis, Splenomegaly |
OMIM:615630 |
| Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Renal tubular atrophy, Tubular basement membrane disintegration, Stage 5 ch... |
OMIM:613159 |
| Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Highly arched eyebrow, Nephronophthisis |
OMIM:608629 |
| Phacoanaphylactic Uveitis |
|
Vitreoretinopathy, Abnormal corneal endothelium morphology, Tractional retinal detachment, Retina... |
ORPHA:209959 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis, Ataxia, Chorea, Tremor, Choreoathetosis, Dystonia |
ORPHA:2131 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Senior-Loken Syndrome 1 |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Anemia, Renal insuff... |
OMIM:266900 |
| Trichodysplasia-Xeroderma Syndrome |
|
Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Alopecia, Coarse hair, Spa... |
ORPHA:3361 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst |
OMIM:611560 |
| Woolly Hair Nevus |
|
Persistent pupillary membrane, Heterochromia iridis |
ORPHA:79414 |
| Coach Syndrome 1 |
|
Stage 5 chronic kidney disease, Renal cyst, Unilateral renal agenesis, Hepatomegaly, Nephronophth... |
OMIM:216360 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails |
ORPHA:500166 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Pili torti, Congenital onychodystrophy, Onycholysis, Brittle hair, Alopecia, Ab... |
OMIM:602032 |
| Senior-Loken Syndrome 3 |
|
Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polyuria |
OMIM:606995 |
| Woolly Hair, Autosomal Recessive 3 |
|
Trichorrhexis nodosa, Curly hair, Fine hair, Sparse hair, Sparse eyelashes, Sparse scalp hair |
OMIM:616760 |
| Pili Torti |
|
Abnormal eyebrow morphology, Brittle hair, Abnormality of the nail, Alopecia, Abnormality of hair... |
ORPHA:2889 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Hec Syndrome |
|
Developmental cataract, Abnormal retinal vascular morphology, Abnormal pupil morphology |
ORPHA:2119 |
| Uncombable Hair Syndrome |
|
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
| Growth Hormone Insensitivity Syndrome |
|
Fine hair, Abnormality of the nail, Hypoplasia of penis |
ORPHA:181393 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki... |
OMIM:263200 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis, Retinal infarction |
OMIM:613834 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor |
OMIM:619649 |
| Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Ataxia, Dysesthesia, Impaired proprioception, Anisocoria, Sensory ataxia |
ORPHA:79138 |
| Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Cirrhosis, Broad nail, Sparse hair, ... |
OMIM:614099 |
| Monilethrix |
|
Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair |
OMIM:158000 |
| Stormorken Syndrome |
|
Hypoplastic spleen, Asplenia, Anemia, Thrombocytopenia, Hematuria, Howell-Jolly bodies |
OMIM:185070 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Optic atrophy, Optic disc pallor |
OMIM:259720 |
| Distal Duplication 6P |
|
Abnormal hair quantity, Hydronephrosis, Abnormal eyelash morphology, Fine hair, Abnormality of th... |
ORPHA:1745 |
| Arachnoid Cyst |
|
Mydriasis, Distal sensory impairment, Paresthesia |
ORPHA:2356 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Re... |
OMIM:603860 |
| Hyperekplexia 2 |
|
Astigmatism, Exaggerated startle response |
OMIM:614619 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Buphthalm... |
ORPHA:91495 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Renal interstitial amyloid deposits, Chronic kidney disease, Renal amyloidosis, Glom... |
ORPHA:439232 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Fine hair, Nail dystrophy |
OMIM:300652 |
| Monilethrix |
|
Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Fine hair, Brittle hai... |
ORPHA:573 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatosplenomegaly, Stage 5 chronic kidney disease, ... |
ORPHA:84081 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Micropenis, Asplenia |
OMIM:602361 |
| Microphthalmia, Syndromic 9 |
|
Hydronephrosis, Hypoplastic spleen, Horseshoe kidney, Multilobulated spleen, Renal malrotation, P... |
OMIM:601186 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Abnormality of pain sensation, Distal sensory impairment, Tonic pupil, Abnormal pupil morphology,... |
ORPHA:90658 |
| Hypotrichosis 8 |
|
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... |
OMIM:278150 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Thin toenail, Fine hair, Abnormality of the nail, Fragile nails, Abnormal fingernail morphology, ... |
ORPHA:2228 |
| Netherton Syndrome |
|
Hydronephrosis, Trichorrhexis nodosa, Ectopic kidney, Fine hair, Sparse eyebrow, Aminoaciduria, A... |
ORPHA:634 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Nail dystrophy, Renal hypoplasia |
ORPHA:75389 |
| Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Uncombable Hair Syndrome 3 |
|
Curly hair, Pili canaliculi, Uncombable hair, Brittle hair |
OMIM:617252 |
| Rhyns Syndrome |
|
Renal insufficiency, Nephronophthisis, Chronic kidney disease |
OMIM:602152 |
| Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis |
OMIM:610688 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormality of medullary pyramid morphology |
ORPHA:79243 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Weaver Syndrome |
|
Fine hair, Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplasia of penis, Hypopl... |
ORPHA:3447 |
| Craniofrontonasal Dysplasia |
|
Widow's peak, Low posterior hairline, Abnormality of hair texture, Woolly hair, Ridged fingernail... |
ORPHA:1520 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae |
OMIM:618223 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Scorpion Envenomation |
|
Mydriasis, Paresthesia, Ataxia, Tremor, Miosis |
ORPHA:466677 |
| Cocaine Intoxication |
|
Tremor, Mydriasis |
ORPHA:90068 |
| Hypotrichosis 7 |
|
Sparse body hair, Sparse axillary hair, Brittle hair, Abnormality of the nail, Abnormal sweat gla... |
OMIM:604379 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Mydriasis, Optic atrophy, Optic nerve compression |
OMIM:619727 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Glomerulonephritis, Synophrys, Fine hair, Nephrotic syndrome, Glomerular sclerosis, ... |
OMIM:619428 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Hypoplastic spleen, Leukopenia, Microphallus, Anemia, Lymphop... |
OMIM:617053 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Jaundice, Cholestatic liver disease, Nephrocalcinosis, Reduced renal corti... |
OMIM:208085 |
| Short Syndrome |
|
Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hypoplasia of the ... |
ORPHA:3163 |
| Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Abnormality of the bladder, Hematuria, Sparse hair |
ORPHA:1839 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Coarse hair, Sparse eyebrow, Sparse hair, Sparse eyelashes |
OMIM:234030 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Long eyelashes, Renal tubular atrophy, Leukopenia, Enlarged kidney, Anemia, Synophry... |
OMIM:617303 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Fine hair, Slow-growing hair, Sparse eyebrow, Sparse hair, Sparse eyelashes |
OMIM:129490 |
| Sulfite Oxidase Deficiency, Isolated |
|
Decreased urinary sulfate, Fine hair, Increased urinary sulfite, Sulfocysteinuria |
OMIM:272300 |
| Clouston Syndrome |
|
Nail dysplasia, Absent axillary hair, Onycholysis, Fine hair, Brittle hair, Alopecia, Small nail,... |
OMIM:129500 |
| Familial Dysautonomia |
|
Impaired pain sensation, Ataxia, Corneal erosion, Abnormal pupil morphology, Corneal opacity, Opt... |
ORPHA:1764 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal toenail morphology, Fine hair, Alopecia, Abnormal fingernail morphology, Abnormal hair m... |
ORPHA:248 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Tubu... |
OMIM:174000 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Synophrys, Hepatomegaly, Coarse hair, Hirsutism, Splenomegaly |
OMIM:252920 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Impaired pain sensation, Impaired distal vibration sensation, Abnormal pupillary light reflex, He... |
ORPHA:99949 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyelash morphology, Abnormality of the axillary hair, Abnormal eyebrow morphology, Fine ... |
ORPHA:90368 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse body hair, Woolly hair, Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse scalp hair |
OMIM:616099 |
| Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Synophrys, Hepatomegaly, Coarse hair, Hirsutism, Splenomegaly |
OMIM:252900 |
| Trichodental Dysplasia |
|
Sparse hair, Fine hair, Brittle hair, Slow-growing hair |
OMIM:601453 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Micropenis, Tiger tail banding, Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sul... |
OMIM:300953 |
| Naxos Disease |
|
Curly hair, Woolly hair, Sparse scalp hair, Abnormality of hair texture |
ORPHA:34217 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... |
OMIM:208540 |
| Noonan Syndrome 9 |
|
Curly hair, Hydroureter, Sparse eyebrow |
OMIM:616559 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Optic atrophy, Optic disc pallor, Impaired vibration sensation in t... |
ORPHA:320406 |
| Heme Oxygenase 1 Deficiency |
|
Proteinuria, Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy,... |
OMIM:614034 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Thrombocytopenia, Multicystic kidney dysplasia, Curly hair |
OMIM:619980 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
| Hypotrichosis 12 |
|
Sparse axillary hair, Abnormality of the nail, Abnormal sweat gland morphology, Slow-growing hair... |
OMIM:615885 |
| Arima Syndrome |
|
Polycystic kidney dysplasia, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, ... |
OMIM:243910 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Patchy alopecia, Absent facial hair, Alopecia, Small nail, Coarse hair, Hypoplastic toenails, Spa... |
OMIM:613573 |
| Papillorenal Syndrome |
|
Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C... |
OMIM:120330 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal toenail morphology, Supernumerary nipple, Fine hair, Abnormal fingernail morphology, Ung... |
ORPHA:1433 |
| Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Coarse hair, Focal segmental glomerulosclerosis, Diffuse mesangia... |
OMIM:619603 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyebrow, Sparse hair, Sparse eyelashes, Pili torti |
OMIM:607903 |
| Proteus-Like Syndrome |
|
Cataract, Abnormal pupil morphology, Retinal detachment, Limbal dermoid, Heterochromia iridis |
ORPHA:2969 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Brittle hair, Sideroblastic anemia, B lymphocytopenia, Aminoaciduria, Hypochrom... |
OMIM:616084 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Nail dysplasia, Brittle hair, Progressive hypotrichosis, Abnormality of hair texture, Sparse eyeb... |
OMIM:225060 |
| Bazex-Dupré-Christol Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse eyebrow, Sparse hair, Pili ... |
ORPHA:113 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Fine hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Sparse eyebrow, Sparse scalp hair |
ORPHA:1882 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia universalis, Nephrocalcinosis, Asplenia, Chronic active hepatitis, Alopecia, Nail dystro... |
OMIM:240300 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair, Renal hypoplasia |
OMIM:616817 |
| Mucopolysaccharidosis, Type Iiic |
|
Heparan sulfate excretion in urine, Synophrys, Hepatomegaly, Coarse hair, Hirsutism, Hypertrichos... |
OMIM:252930 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Nail dysplasia, Renal cyst, Fine hair, Hepatic fibrosis, Sparse hair... |
OMIM:614091 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Uncombable hair, Hypoplasia of penis, Slow-growing hair, Abnormal hair morphology, Aplasia/Hypopl... |
ORPHA:3082 |
| Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia universalis, Brittle hair, Alopecia, Absent eyelashes, Absent eyebrow,... |
ORPHA:2890 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Onycholysis, Brittle hair, Dystrophic fingernails, Dystrophic toenail, Alopecia, Abnormal sweat g... |
OMIM:614929 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... |
OMIM:615415 |
| Pearson Syndrome |
|
Proteinuria, Reticulocytosis, Hypoplastic spleen, Glycosuria, Renal cyst, Abnormality of the live... |
ORPHA:699 |
| Duane Retraction Syndrome |
|
Central heterochromia, Iris coloboma, Blepharospasm, Optic disc hypoplasia, Hypoplastic iris stro... |
ORPHA:233 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Abnormal renal corticomedullary differentiation, Hepatomegaly |
OMIM:617397 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyelash morphology, Abnormal eyebrow morphology, Coarse hair, Slow-growing hair, Woolly ... |
OMIM:194300 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cholangitis, Hepatosplenomegaly, Acute kidney injury, Stage 5 chronic kidney disease, Renal cyst,... |
OMIM:266920 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Nail dysplasia, Leukopenia, Aplastic anemia, Fine hair, Premature graying of hair, Bone marrow hy... |
OMIM:613990 |
| Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... |
ORPHA:67042 |
| Juvenile Glaucoma |
|
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal anterior chamb... |
ORPHA:98977 |
| Degcags Syndrome |
|
Abnormal eyebrow morphology, Abnormal spleen morphology, Cholestasis, Hepatomegaly, Bilateral ren... |
OMIM:619488 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb dystonia, Torticollis, Blepharospasm, Limb tremor, Oculogyric crisis, Athetosis, Miosis, Exa... |
OMIM:608643 |
| Tonne-Kalscheuer Syndrome |
|
Micropenis, Fine hair, Concave nail, Small nail, Hypospadias |
OMIM:300978 |
| Intellectual Disability, Buenos-Aires Type |
|
Fine hair, Hyperconvex thumb nails, Abnormal fingernail morphology, Hydronephrosis |
ORPHA:3079 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Optic atrophy, Optic disc pallor |
OMIM:609541 |
| Trichohepatoenteric Syndrome 2 |
|
Chronic hepatitis, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Hepatomegaly, Cirrhosis, ... |
OMIM:614602 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... |
OMIM:619313 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Fine hair, Sparse hair, Absent eyebrow |
OMIM:615278 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Optic atrophy, Ataxia |
OMIM:231550 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Nail dysplasia, Trichorrhexis nodosa, Brittle hair, Concave nail, Abnormality of hair texture, Sm... |
OMIM:234050 |
| Gm2 Gangliosidosis, Ab Variant |
|
Cherry red spot of the macula, Exaggerated startle response, Dystonia, Chorea |
ORPHA:309246 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Brittle hair, Pili torti, Sparse scalp hair |
ORPHA:1573 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Wolf-Hirschhorn Syndrome |
|
Ectopia pupillae, Iris coloboma, Rieger anomaly |
OMIM:194190 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis, Patchy alopecia, Abnormality of the nail, Coarse hair, Sparse eyebrow, Scarring a... |
ORPHA:35173 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Thick eyebrow |
OMIM:620047 |
| Macrocephaly/Autism Syndrome |
|
Penile freckling, Hepatomegaly, Lymphopenia, Coarse hair, Splenomegaly |
OMIM:605309 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Curly eyelashes, Curly hair, Brittle hair, Sparse eyebrow, Sparse hair, Sparse ... |
OMIM:602400 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Fine hair, Hypopigmentation of hair, Lymphadenopathy, Generalized hi... |
ORPHA:2221 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Brittle hair, Alopecia, Sparse eyebrow, Leukonychia, Sparse hair |
OMIM:104100 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Knobloch Syndrome 1 |
|
Peripapillary atrophy, Ataxia, Cortical cataract, Vitreoretinopathy, Retinal detachment, Optic di... |
OMIM:267750 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Tiger tail banding |
OMIM:618546 |
| Revesz Syndrome |
|
Megalocornea, Ataxia, Exudative retinopathy, Leukocoria |
OMIM:268130 |
| Chops Syndrome |
|
Long eyelashes, Thick hair, Synophrys, Curly hair, Horseshoe kidney, Thick eyebrow, Coarse hair, ... |
OMIM:616368 |
| Joubert Syndrome 5 |
|
Renal cortical cysts, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiat... |
OMIM:610188 |
| Pierson Syndrome |
|
Cataract, Retinal hemorrhage, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypopl... |
OMIM:609049 |
| Bjornstad Syndrome |
|
Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about ... |
OMIM:262000 |
| Koolen-De Vries Syndrome |
|
Hydronephrosis, Renal duplication, Abnormality of hair texture, Hypopigmentation of hair, Uretera... |
ORPHA:96169 |
| Pili Torti, Early-Onset |
|
Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about ... |
OMIM:261900 |
| Mowat-Wilson Syndrome |
|
Cataract, Ectopia pupillae, Iris coloboma, Chorioretinal coloboma, Microcornea |
OMIM:235730 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Brittle hair, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
| Schimke Immunoosseous Dysplasia |
|
Proteinuria, Stage 5 chronic kidney disease, Anemia, Fine hair, Renal insufficiency, Neutropenia,... |
OMIM:242900 |
| Noonan Syndrome 4 |
|
Hydronephrosis, Curly hair, High anterior hairline, Sparse eyebrow, Thrombocytopenia, Ureteral du... |
OMIM:610733 |
| Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
| Björnstad Syndrome |
|
Brittle hair, Alopecia |
ORPHA:123 |
| Joubert Syndrome 2 |
|
Renal insufficiency, Nephronophthisis, Renal cyst |
OMIM:608091 |
| Syndromic Diarrhea |
|
Hypoplasia of the thymus, Polycystic kidney dysplasia, Trichorrhexis nodosa, Uncombable hair, Abn... |
ORPHA:84064 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow, Hepatomegaly, Micropenis |
OMIM:618810 |
| Rapp-Hodgkin Syndrome |
|
Uncombable hair, Fine hair, Supernumerary nipple, Onychogryposis, Decreased number of sweat gland... |
OMIM:129400 |
| Short Rib-Polydactyly Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the kidney, Multiple glomerular cysts, Abnormality of... |
ORPHA:1505 |
| Trichohepatoenteric Syndrome 1 |
|
Renal cortical microcysts, Jaundice, Trichorrhexis nodosa, Curly hair, Fine hair, Brittle hair, G... |
OMIM:222470 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Renal hypoplasia |
OMIM:619758 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Pili canaliculi, Dry hair |
OMIM:191480 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy, Ataxia |
OMIM:616881 |
| Alagille Syndrome |
|
Abnormal pupil morphology, Keratoconus, Corneal dystrophy |
ORPHA:52 |
| Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Brittle hair, Dry hair, Nail dystrophy, Sparse hair |
OMIM:211390 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dysplasia, Abnormality of hair texture, Nail dystrophy |
OMIM:601957 |
| 19Q13.11 Microdeletion Syndrome |
|
Nail dysplasia, Supernumerary nipple, Fine hair, Sparse lateral eyebrow, Sparse or absent eyelash... |
ORPHA:217346 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber |
OMIM:251750 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Cornelia De Lange Syndrome 1 |
|
Abnormal renal morphology, Proteinuria, Long eyelashes, Curly eyelashes, Renal cyst, Synophrys, H... |
OMIM:122470 |
| Amaurosis-Hypertrichosis Syndrome |
|
Synophrys, Coarse hair, Abnormal eyelash morphology, Thick eyebrow |
ORPHA:1021 |
| Multiple Sulfatase Deficiency |
|
Mucopolysacchariduria, Hepatomegaly, Thick eyebrow, Coarse hair, Splenomegaly |
ORPHA:585 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Recurrent urinary tract infections, He... |
ORPHA:731 |
| Trisomy 20P |
|
Hydronephrosis, Abnormality of the kidney, Thick hair, Abnormality of the ureter, Low posterior h... |
ORPHA:261318 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cataract, Ectopia pupillae, Impaired pain sensation, Iris coloboma, Astigmatism, Abnormal pupil m... |
ORPHA:261552 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Tay-Sachs Disease |
|
Cherry red spot of the macula, Exaggerated startle response |
OMIM:272800 |
| Bazex-Dupre-Christol Syndrome |
|
Trichorrhexis nodosa, Trichoepithelioma, Coarse hair, Sparse hair, Pili torti |
OMIM:301845 |
| Hypotrichosis 13 |
|
Sparse hair, Abnormal sweat gland morphology, Woolly hair, Sparse eyelashes |
OMIM:615896 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Fine hair, Sparse scalp hair |
ORPHA:2324 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria |
OMIM:618056 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate... |
OMIM:602522 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Renal insufficiency, Hypocalciuria, Multiple small medullary renal cysts, Nephrolit... |
OMIM:600740 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Retinal detachment, Leukocoria |
ORPHA:2714 |
| Retinoblastoma |
|
Retinal calcification, Vitritis, Vitreous hemorrhage, Retinoblastoma, Leukocoria |
OMIM:180200 |
| Superficial Siderosis |
|
Impaired pain sensation, Paresthesia, Limb ataxia, Ataxia, Progressive gait ataxia, Dysdiadochoki... |
ORPHA:247245 |
| Genitopatellar Syndrome |
|
Fine hair, Multicystic kidney dysplasia, Sparse scalp hair, Hydronephrosis |
ORPHA:85201 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Tubular luminal dilata... |
OMIM:219730 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Fine hair, High anterior hairline, Long eyelashes |
ORPHA:231137 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
| Oculoauricular Syndrome |
|
Cataract, Iris cyst, Rod-cone dystrophy, Iris coloboma, Cone/cone-rod dystrophy, Morning glory an... |
OMIM:612109 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
| Progeroid Syndrome, Petty Type |
|
Abnormal hair morphology, Brittle hair, Abnormality of the nail, Thick eyebrow, Sparse hair, Long... |
ORPHA:2963 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Brittle hair, Hepatomegaly, Alopecia |
ORPHA:50812 |
| Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease, Abnormality of hair texture |
ORPHA:2752 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Tiger tail banding, Slow-growing hair |
OMIM:616943 |
| Trichinellosis |
|
Abnormal uvea morphology, Central retinal artery occlusion, Conjunctival hyperemia, Anisocoria, A... |
ORPHA:863 |
| Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... |
OMIM:613195 |
| Mosaic Trisomy 9 |
|
Hydronephrosis, Asplenia, Horseshoe kidney, Multiple renal cysts, Hypoplasia of penis, Renal dysp... |
ORPHA:99776 |
| Mucoepithelial Dysplasia, Hereditary |
|
Nail dysplasia, Chronic monilial nail infection, Alopecia, Eosinophilia, Coarse hair, Hematuria, ... |
OMIM:158310 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Fine hair, Widow's peak, Horizontal eyebrow |
OMIM:615828 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia, Chorea |
OMIM:272750 |
| Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair, Hypospadias |
ORPHA:363686 |
| Eec Syndrome |
|
Hypoplasia of the thymus, Hydronephrosis, Nail pits, Fine hair, Renal hypoplasia/aplasia, Thick e... |
ORPHA:1896 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Proteinuria, Renal tubular atrophy, Decreased glomerular filtration rate, Onycholysis, Fine hair,... |
OMIM:614748 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Tubulointerstitial nephritis, Aplasia/Hypoplasia of the spleen, Autoimmune t... |
ORPHA:227990 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Persistent pupillary membrane, Cataract, Microcornea |
OMIM:257850 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Eosinophilia, Onycholysis, Nail dystrophy |
OMIM:270300 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pancreatitis, Brittle hair, Homocystinuria, Hepatic steatosis, Methioninuria |
OMIM:236200 |
| Giant Axonal Neuropathy |
|
Pili canaliculi, Woolly hair |
ORPHA:643 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Persistent pupillary membrane, Cataract, Peters anomaly, Buphthalmos |
OMIM:613150 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Somatic sensory dysfunction, Ataxia |
OMIM:615510 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Leukopenia, Tubulointerstitial nephritis, Aplasia/Hypoplasia of the spleen, Autoimmune t... |
ORPHA:227982 |
| Acrogeria |
|
Fine hair |
ORPHA:2500 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Chorea |
OMIM:617864 |
| Retinoblastoma |
|
Subretinal pigment epithelium hemorrhage, Uveitis, Retinal calcification, Abnormality of retinal ... |
ORPHA:790 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cell carcinoma, Renal angiomyolipoma, Re... |
OMIM:613254 |
| Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Exaggerated startle response |
ORPHA:309155 |
| Noonan Syndrome 6 |
|
Curly hair, Low posterior hairline, Long eyebrows, Sparse hair, Juvenile myelomonocytic leukemia |
OMIM:613224 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hypospadias |
ORPHA:457485 |
| Argininosuccinic Aciduria |
|
Oroticaciduria, Trichorrhexis nodosa, Brittle hair, Hepatic fibrosis, Hepatomegaly, Dry hair, Ami... |
OMIM:207900 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Nail dysplasia, Curly eyelashes, Curly hair, Low posterior hairline, Thick eyebrow, Multiple rows... |
ORPHA:163654 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Woolly hair |
OMIM:605676 |
| Mucopolysaccharidosis, Type Vii |
|
Heparan sulfate excretion in urine, Hepatomegaly, Thick eyebrow, Dermatan sulfate excretion in ur... |
OMIM:253220 |
| Lysinuric Protein Intolerance |
|
Oroticaciduria, Stage 5 chronic kidney disease, Hemophagocytosis, Hyperlysinuria, Leukopenia, Fin... |
OMIM:222700 |
| Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Abnormal hair pattern, Hypospadias |
ORPHA:1786 |
| Cardiofaciocutaneous Syndrome |
|
Hydronephrosis, Abnormal eyelash morphology, Fine hair, Brittle hair, Low posterior hairline, Dys... |
ORPHA:1340 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Brittle hair, Alopecia, Stage 5 chronic kidney disease |
OMIM:608612 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Anemia |
OMIM:121270 |
| Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormality of hair texture, Fair hair, Vesic... |
OMIM:610443 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Micropenis |
OMIM:619435 |
| Onychotrichodysplasia And Neutropenia |
|
Curly eyelashes, Trichorrhexis nodosa, Curly hair, Chronic neutropenia, Short eyelashes, Concave ... |
OMIM:258360 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| 2P15P16.1 Microdeletion Syndrome |
|
Hydronephrosis, Long eyelashes, Supernumerary nipple, Fine hair, Sparse eyebrow, Multicystic kidn... |
ORPHA:261349 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Fine hair, Aplastic/hypoplastic toenail, Hypoplasia of penis, Aplasia/Hypop... |
ORPHA:1812 |
| Cardiofaciocutaneous Syndrome 4 |
|
Curly hair, Alopecia of scalp, Absent eyebrow, Sparse hair, Sparse eyelashes |
OMIM:615280 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Synophrys, Coarse hair, Curly hair |
OMIM:616351 |
| Norrie Disease |
|
Cataract, Anterior chamber synechiae, Ectopia lentis, Abnormal retinal vascular morphology, Abnor... |
ORPHA:649 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Hydronephrosis, Annular pancreas, Asplenia |
ORPHA:210122 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Woolly hair, Leukonychia, Fragile nails, Nail dystrophy |
OMIM:615821 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Curly hair, Synophrys, Sparse eyebrow, Sparse hair |
OMIM:620075 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Cataract, Retinal detachment, Exaggerated startle response, Retinal dysplasia, Optic atrophy |
OMIM:253800 |
| Skin fragility-woolly hair syndrome |
|
Alopecia, Woolly hair, Sparse eyebrow, Nail dystrophy, Sparse eyelashes |
OMIM:607655 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Brittle hair, Abnormality of hair texture |
OMIM:219200 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hydronephrosis, Curly hair, Low posterior hairline, Absent eyelashes, Absent eyebrow, Slow-growin... |
OMIM:115150 |
| Noonan Syndrome 5 |
|
Curly hair, Fine hair, Sparse eyebrow, Small nail |
OMIM:611553 |
| Menkes Disease |
|
Sparse hair, Brittle hair, Alopecia |
OMIM:309400 |
| Trichothiodystrophy 1, Photosensitive |
|
Trichoschisis, Tiger tail banding, Trichorrhexis nodosa, Fine hair, Brittle hair, Fragile nails, ... |
OMIM:601675 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Fine hair, Abnormal fingernail morphology, Onycholysis, Hypoplastic toenails |
ORPHA:1028 |
| Sandhoff Disease |
|
Cherry red spot of the macula, Exaggerated startle response, Impaired temperature sensation, Ataxia |
OMIM:268800 |
| Pachyonychia Congenita 2 |
|
Nail dysplasia, Sparse eyebrow, Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse scalp ... |
OMIM:167210 |
| Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
| Netherton Syndrome |
|
Hypereosinophilia, Brittle hair, Sparse eyebrow, Brittle scalp hair, Sparse scalp hair |
OMIM:256500 |
| Mucopolysaccharidosis, Type Iiid |
|
Heparan sulfate excretion in urine, Synophrys, Hepatomegaly, Thick eyebrow, Coarse hair, Hirsutis... |
OMIM:252940 |
| Cerebellar-Facial-Dental Syndrome |
|
Hydronephrosis, Fine hair, Ureteropelvic junction obstruction, Sparse eyebrow, Sparse hair |
ORPHA:444072 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Fine hair, Low anterior hairline, Synophrys |
ORPHA:391408 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Long eyelashes, Synophrys, Brittle hair, Thick eyebrow, Highly arched eyebrow |
OMIM:617412 |
| Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Trichorrhexis nodosa, Brittle hair, Lymphopenia, Neutropenia |
OMIM:616395 |
| Odontoonychodermal Dysplasia |
|
Short nail, Sparse body hair, Anonychia, Nail dysplasia, Ridged nail, Fine hair, Dystrophic finge... |
OMIM:257980 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Stage 5 chronic kidney disease, Cholestasis, Duplicated collecting syst... |
OMIM:118450 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Hypospadias |
OMIM:619184 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
| Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
| Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
| Leopard Syndrome 3 |
|
Curly hair, Low posterior hairline |
OMIM:613707 |
| Jaberi-Elahi Syndrome |
|
Fine hair, Brittle hair, Sparse eyebrow, Sparse hair, Sparse eyelashes |
OMIM:617988 |
| Incontinentia Pigmenti |
|
Nail pits, Nail dysplasia, Leukocytosis, Ridged nail, Breast hypoplasia, Supernumerary nipple, Hy... |
OMIM:308300 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Fine hair, Brittle hair, Sparse hair, Chordee, Hypospadias |
OMIM:618891 |
| Cartilage-Hair Hypoplasia |
|
Sparse facial hair, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Fine hair... |
OMIM:250250 |
| Cockayne Syndrome Type 3 |
|
Hydronephrosis, Urinary retention, Neurogenic bladder, Premature graying of hair, Hydroureter, Re... |
ORPHA:90324 |
| Orofaciodigital Syndrome Type 1 |
|
Hydronephrosis, Proteinuria, Brittle hair, Renal insufficiency, Alopecia, Coarse hair, Pancreatic... |
ORPHA:2750 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Chronic hepatitis, Alopecia, Cirrhosis, Hepatitis, Iron deficiency anemia, Exo... |
OMIM:269200 |
| Scalp-Ear-Nipple Syndrome |
|
Nail dysplasia, Patchy alopecia, Pyelonephritis, Sparse axillary hair, Fine hair, Renal insuffici... |
OMIM:181270 |
| Dubowitz Syndrome |
|
Hydronephrosis, Anemia, Fine hair, Acute lymphoblastic leukemia, Low anterior hairline, Abnormali... |
ORPHA:235 |
| Trichorhinophalangeal Syndrome, Type I |
|
Fine hair, Concave nail, Thin nail, Sparse lateral eyebrow, Slow-growing hair, Leukonychia, Spars... |
OMIM:190350 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Adult Syndrome |
|
Toenail dysplasia, Nail pits, Breast hypoplasia, Hypoplastic nipples, Fine hair, Abnormality of t... |
ORPHA:978 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Breast hypoplasia, Curly hair, Widow's peak, Low posterior hairline, Fragile nails, ... |
OMIM:304110 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy |
OMIM:617301 |
| Tay-Sachs Disease |
|
Tremor, Exaggerated startle response, Cherry red spot of the macula, Laryngeal dystonia, Optic at... |
ORPHA:845 |
| Pseudoaminopterin Syndrome |
|
Asplenia, Horseshoe kidney, Highly arched eyebrow, Frontal upsweep of hair, Sparse scalp hair |
ORPHA:221120 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Adrenomyeloneuropathy |
|
Urinary retention, Frontal balding, Fine hair, Urinary incontinence, Urinary bladder sphincter dy... |
ORPHA:139399 |
| Fetal Hydantoin Syndrome |
|
Hypoplastic fingernail, Coarse hair, Low posterior hairline |
ORPHA:1912 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hepatocellular carcinoma, Abnormality of the liver, Abnormality of hair texture |
ORPHA:88618 |
| Laterality Defects, Autosomal Dominant |
|
