| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
| Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
| Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
| Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Orbital cyst, Microcornea, Microphthalmia |
OMIM:251505 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
| Deafness, Autosomal Dominant 80 |
|
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... |
OMIM:619274 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
| Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
| Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
| Regional Odontodysplasia |
|
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... |
ORPHA:83450 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Low-set ears, Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormal pin... |
ORPHA:3216 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
| Amelogenesis Imperfecta |
|
Multiple unerupted teeth, Abnormal jaw morphology, Fragile teeth, Abnormality of permanent molar ... |
ORPHA:88661 |
| Dentin Dysplasia, Type I |
|
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... |
OMIM:125400 |
| Coxoauricular Syndrome |
|
Microtia, Hearing impairment |
OMIM:122780 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:610092 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
| Amelogenesis Imperfecta, Type Ij |
|
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite |
OMIM:617297 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Abnormality of the philtrum, Camptodactyly of finger, Long eyelashes, Cryptorchidism, Low-set ear... |
ORPHA:2863 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... |
OMIM:225200 |
| Otodental Dysplasia |
|
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Anteverted nares, Long phi... |
OMIM:166750 |
| Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment |
OMIM:618915 |
| Branchiootic Syndrome 1 |
|
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... |
OMIM:602588 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
High palate, Bilateral cleft lip and palate, Ankyloglossia, Bifid nasal tip, Enamel hypoplasia, S... |
OMIM:618874 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... |
ORPHA:888 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia |
OMIM:104530 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
| 15Q24 Microdeletion Syndrome |
|
Epicanthus, Proximal placement of thumb, Abnormal heart morphology, Hearing impairment, High ante... |
ORPHA:94065 |
| Familial Adenomatous Polyposis 2 |
|
Colon cancer, Adenomatous colonic polyposis |
OMIM:608456 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
| Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
| Cat Eye Syndrome |
|
Rectal fistula, Epicanthus, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Ventri... |
OMIM:115470 |
| Tietz Albinism-Deafness Syndrome |
|
Blue irides, Hypopigmentation of the fundus, Generalized hypopigmentation, White eyelashes, White... |
OMIM:103500 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract, Microphthalmia |
OMIM:610623 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure, Optic atrophy, Ptosis |
OMIM:620086 |
| Ulnar-Mammary Syndrome |
|
Delayed puberty, Inguinal hernia, Ventricular septal defect, Hypoplastic nipples, Short 5th finge... |
OMIM:181450 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Orofaciodigital Syndrome V |
|
High palate, Bifid uvula, Horseshoe kidney, Ankyloglossia, Downslanted palpebral fissures, Agangl... |
OMIM:174300 |
| Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... |
OMIM:309300 |
| Tetraamelia Syndrome 2 |
|
Micropenis, Ankyloglossia, Cleft palate, Bilateral cleft lip, Glossoptosis, Absent nipple |
OMIM:618021 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy, Generalized hyperpigmentation |
ORPHA:2253 |
| Mosaic Trisomy 14 |
|
High palate, Cryptorchidism, Prominent nasal bridge, Cleft palate, Hypoplasia of penis, Anteverte... |
ORPHA:1703 |
| Pendred Syndrome |
|
Enlarged vestibular aqueduct, Abnormality of the inner ear, Vertigo, Hypoplasia of the cochlea, S... |
ORPHA:705 |
| Bartsocas-Papas Syndrome 1 |
|
Oligodactyly, Inguinal hernia, Anonychia, Ambiguous genitalia, Short thumb, Ablepharon, Upslanted... |
OMIM:263650 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Hip dislocation, Short thumb, Tetralogy of Fallot, Horseshoe kidney, Ventricular se... |
OMIM:274000 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Aniridia 1 |
|
Cataract, Ectopia pupillae, Hypoplasia of the fovea, Ectopia lentis, Retinal vascular tortuosity,... |
OMIM:106210 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cryptorchidism, Tooth agenesis, Protruding ear, Tetralogy of Fallot, Respiratory insufficiency, V... |
ORPHA:1166 |
| Deafness, Autosomal Dominant 9 |
|
Tinnitus, Vertigo, Abnormality of the vestibulocochlear nerve, Cochlear degeneration, Postlingual... |
OMIM:601369 |
| Microcephaly 6, Primary, Autosomal Recessive |
|
Microtia |
OMIM:608393 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism, Tooth agenesis, Cleft palate, Non-midline cleft lip, Ankyloblepharon |
ORPHA:1074 |
| Anterior Segment Dysgenesis 3 |
|
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... |
OMIM:601631 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Epicanthus, Renal duplication, Upslanted palpebral fissure, Narrow palate, Clitoral hypoplasia, B... |
OMIM:180700 |
| 17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thick nasal alae, Thin vermilion border, Abnormal dental ena... |
ORPHA:139474 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Cryptorchidism, Umbilical hernia, Absent lacrimal punctum, Upslanted palpebral fissure, High, nar... |
OMIM:273390 |
| Burning Mouth Syndrome |
|
Parageusia, Strawberry tongue, Xerostomia, Tongue pain, Abnormality of taste sensation, Burning m... |
ORPHA:353253 |
| Focal Dermal Hypoplasia |
|
Aplasia/Hypoplasia of the lungs, Inguinal hernia, Camptodactyly of finger, Tooth agenesis, Ventri... |
ORPHA:2092 |
| Posterior Polymorphous Corneal Dystrophy |
|
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... |
ORPHA:98973 |
| Cataract 9, Multiple Types |
|
Cataract, Iris coloboma, Microphthalmia, Developmental cataract, Progressive cataract, Microcornea |
OMIM:604219 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Ankyloblepharon, Sclerocornea, Microphthalmia |
OMIM:611038 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel |
OMIM:613211 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrupted aortic arch, Pa... |
ORPHA:2255 |
| De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Inguinal hernia, Epicanthus, Ventricular septal defect, Hypop... |
ORPHA:2962 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Palmar hyperhidrosis, Enamel hypoplasia, Oral mucosal blisters, Hypodont... |
OMIM:226650 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Retinal nonattachment, Iris hypopigmentation, Vitelliform-like macular lesions |
ORPHA:99000 |
| Emanuel Syndrome |
|
Inguinal hernia, Ventricular septal defect, Atrial septal defect, Upslanted palpebral fissure, He... |
OMIM:609029 |
| Oligodontia |
|
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... |
ORPHA:99798 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Retinal detachment, Persistent pupillary membrane |
OMIM:620253 |
| Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Cryptorchidism, Micropenis, Malar flattening, Fine hair, Pulmonary hyp... |
OMIM:300978 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Testicular dys... |
ORPHA:1916 |
| Fontaine Progeroid Syndrome |
|
Oligodontia, Anonychia, Short distal phalanx of finger, Hypoplasia of the abdominal wall musculat... |
OMIM:612289 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Death in childhood, Low-set ears, Cryptorchidism, Coarctation of aorta, Micropenis, Shawl scrotum... |
OMIM:600460 |
| 16P11.2P12.2 Microduplication Syndrome |
|
Cleft palate, Hypospadias |
ORPHA:261204 |
| Pai Syndrome |
|
Encephalocele, Midline defect of the nose, Bifid uvula, Nasal polyposis, Downslanted palpebral fi... |
ORPHA:1993 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Atri... |
OMIM:208540 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Gait disturbance, Ataxia, Corneal dystrophy, Spastic ataxia, Developmental cataract, Optic atrophy |
ORPHA:2572 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Long fingers, Highly arched... |
OMIM:618316 |
| Cornelia De Lange Syndrome 1 |
|
Abnormal renal morphology, Inguinal hernia, Hypoplastic radial head, Proximal placement of thumb,... |
OMIM:122470 |
| Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair, Macular hypoplasia |
OMIM:606574 |
| Acrocephalopolydactylous Dysplasia |
|
Extrapulmonary sequestrum, Low-set ears, Epicanthus, Enlarged kidney, Abnormal pinna morphology, ... |
OMIM:200995 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy, Abnormality of skin pigmentation |
OMIM:300719 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Esophageal atresia, Anal atresia, Hand polydactyly, Absent radius, Enlarged kidne... |
OMIM:314390 |
| Emanuel Syndrome |
|
Inguinal hernia, Tooth malposition, Bifid uvula, Ventricular septal defect, Atrial septal defect,... |
ORPHA:96170 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Retinal detachment, Posterior embryotoxon, Chorioretinal coloboma, Corne... |
ORPHA:1473 |
| Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Epicanthus, Upslanted palpebral fissure, Microphthalmia, Microcornea |
ORPHA:2528 |
| Variant Abeta2M Amyloidosis |
|
Abnormal skeletal muscle morphology, Chronic kidney disease, Abnormal salivary gland morphology, ... |
ORPHA:314652 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
| Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation o... |
OMIM:126070 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic atrophy, Optic disc pallor, Tremor |
OMIM:165300 |
| Shaheen Syndrome |
|
Hypohidrosis, Enamel hypoplasia, Carious teeth |
OMIM:615328 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... |
ORPHA:370097 |
| Intellectual Disability, Wolff Type |
|
Camptodactyly of finger, Inguinal hernia, Cryptorchidism, Abnormal intestine morphology, Short di... |
ORPHA:3080 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Repeated pneumothoraces, Ventricular septal defect, Atrial septal defect, Upslanted palpebral fis... |
OMIM:617602 |
| Kilquist Syndrome |
|
Midgut malrotation, Gastroesophageal reflux, Chronic constipation, Hypoplasia of teeth, Xerostomi... |
OMIM:619080 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Ventricular septal defect, Polysyndactyly of ha... |
OMIM:263520 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Retrognathia, Ventricular septal defect, Pulmonary hypoplasia, Micrognathia, Clef... |
OMIM:615524 |
| Duane-Radial Ray Syndrome |
|
Epicanthus, Short thumb, Ventricular septal defect, Horseshoe kidney, Aplasia of metacarpal bones... |
OMIM:607323 |
| Czeizel-Losonci Syndrome |
|
Hypoplastic nipples, Upslanted palpebral fissure, Single transverse palmar crease, Hydronephrosis... |
ORPHA:2437 |
| Restrictive Dermopathy |
|
Camptodactyly of finger, Skin erosion, Atrial septal defect, Entropion, Aplasia/Hypoplastia of th... |
ORPHA:1662 |
| Microtia, Hearing Impairment, And Cleft Palate |
|
Mixed hearing impairment, Increased incisura length, Stenosis of the external auditory canal, Ove... |
OMIM:612290 |
| Oliver-Mcfarlane Syndrome |
|
Small for gestational age, Long eyelashes, Central heterochromia, Pigmentary retinopathy, Periphe... |
OMIM:275400 |
| Phocomelia, Schinzel Type |
|
Protruding ear, Cleft palate, Micromelia, Fibular aplasia, Radial bowing, Hypoplasia of the radiu... |
ORPHA:2879 |
| Lacrimoauriculodentodigital Syndrome |
|
Bifid uvula, Choanal atresia, Absent lacrimal punctum, Keratoconjunctivitis sicca, Carious teeth,... |
ORPHA:2363 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Epicanthus, Bifid uvula, Ventricular septal defect, Hypoplastic aortic arch, Atrial septal defect... |
OMIM:617506 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Broad nasal tip, Hypohidrosis, Enamel hypoplasia, Carious teeth, Thick vermilion border |
ORPHA:363523 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Bifid uvula, Nasal polyposis, Median cleft lip, Midline central nervous system lipomas |
OMIM:155145 |
| Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Ataxia, Premature graying of hair, White hair, Hyperlipidemia, Partial alb... |
ORPHA:79476 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Abnormal cranial nerve morphology, Ataxia, Optic disc pallor, Abnormal aut... |
ORPHA:97229 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Short finger, Recurrent respiratory infections, Abnormal long bone morphology, Short toe, Abnorma... |
OMIM:259270 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent lower eyelashes, Hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Cleft pa... |
OMIM:154400 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Abnormal eyebrow morphology, Hypoplasia of penis, Nephrolithiasis, Palmoplantar keratoderma, Hypo... |
ORPHA:1816 |
| 48,Xxyy Syndrome |
|
Chronic otitis media, Inguinal hernia, Epicanthus, Hip dysplasia, Upslanted palpebral fissure, Cl... |
ORPHA:10 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Xerostomia, Carious teeth |
OMIM:180920 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Atrioventricular canal defect, Cleft palate, Abnormality of the abdominal organs... |
ORPHA:2409 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Short nose, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridg... |
ORPHA:1355 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Ataxia, Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Intellectual Disability-Strabismus Syndrome |
|
Epicanthus, Atrial septal defect, Upslanted palpebral fissure, Rocker bottom foot, Hearing impair... |
ORPHA:363528 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Pulmonary artery atresia, Cryptorchidism, Short thumb, Ventricular septal defect, Synophrys, Ecto... |
ORPHA:401935 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Open mouth, Cryptorchidism, High palate, Synophrys, Ankyloglossia, Downslanted palpebral fissures... |
OMIM:616078 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Narrow palpebral fissure, Dermal translucency, Cryptorchidism, Inguinal hernia, Hip dislocation, ... |
OMIM:614438 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Ectopia pupillae, Inguinal hernia, Corneal guttata, Corneal dystrophy, Keratoconus |
OMIM:609141 |
| Vacterl/Vater Association |
|
Tracheal stenosis, Aplasia/Hypoplasia of the lungs, Abnormal morphology of female internal genita... |
ORPHA:887 |
| Chromosome 15Q25 Deletion Syndrome |
|
Low-set ears, Cryptorchidism, Inguinal hernia, Dextrocardia, Ventricular septal defect, Synophrys... |
OMIM:614294 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Broad nasal tip, Upper eyelid coloboma, Short nose, Microdontia, Thick eyebrow, Clef... |
OMIM:619736 |
| Rapp-Hodgkin Syndrome |
|
Bifid uvula, Onychogryposis, Absent lacrimal punctum, Hearing impairment, Cleft palate, Narrow mo... |
OMIM:129400 |
| Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Epicanthus, Cleft palate, Narrow mouth, Blepharophimosis, Joint contracture of t... |
OMIM:248700 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus, Thick eyebrow,... |
ORPHA:572333 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Epicanthus, Agenesis of permanent teeth, Ankyloglossia, Cleft palate... |
OMIM:311200 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Ankyloblepharon, Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Phenylketonuria |
|
Blue irides, Cataract, Self-mutilation, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Ge... |
OMIM:261600 |
| Dentinogenesis Imperfecta |
|
Grayish enamel, Abnormal dental pulp morphology, Selective tooth agenesis, Fragile teeth, Persist... |
ORPHA:49042 |
| Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmen... |
OMIM:619165 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Hip dislocation, Tetralogy of Fallot, Horseshoe kidney, Nevus flammeus... |
ORPHA:3320 |
| Meier-Gorlin Syndrome 8 |
|
Low-set ears, Microtia |
OMIM:617564 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... |
OMIM:616221 |
| X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
| Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Congenital ptosis, Ectopia lentis, Increased axial length of the globe |
OMIM:110150 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Ectopia pupillae, Astigmatism, Enamel hypoplasia, Scarring alopecia of scalp, Unilatera... |
OMIM:618727 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia, Iris coloboma, Microcoria |
OMIM:616428 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Opitz Gbbb Syndrome |
|
Ankyloglossia, Cleft palate, Hydronephrosis, Cryptorchidism, Wide nasal bridge, Bicornuate uterus... |
ORPHA:2745 |
| Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Ankyloglossia, Upslanted palpebral fissure, Supernumerary tooth, Bifid tongue, Multic... |
ORPHA:1507 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Usher Syndrome Type 3 |
|
Cataract, Iris hypopigmentation, Ataxia, Astigmatism, Anxiety, Depression |
ORPHA:231183 |
| Holoprosencephaly 9 |
|
Single naris, Cryptorchidism, Micropenis, Bilateral cleft lip and palate, Short hard palate, Ante... |
OMIM:610829 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the thymus, Delayed puberty, Secundum atrial septal defect, Right aortic ar... |
OMIM:214800 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Barber-Say Syndrome |
|
Hypoplastic nipples, Widely spaced teeth, Hearing impairment, Sparse eyebrow, Thin vermilion bord... |
OMIM:209885 |
| Fanconi Anemia, Complementation Group D2 |
|
Renal duplication, Short thumb, Horseshoe kidney, Reticulocytopenia, Abnormal heart morphology, H... |
OMIM:227646 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
| Postorgasmic Illness Syndrome |
|
Abnormality of the nose, Xerostomia, Hyperhidrosis |
ORPHA:279947 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Hepatomegaly, Rocker bottom foot, Hearing impairment, Hirsutism, Large... |
OMIM:301056 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Oligodontia, Epicanthus, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Prote... |
OMIM:235510 |
| Dextrocardia |
|
Situs inversus totalis, Abnormal renal morphology, Congenital malformation of the great arteries,... |
ORPHA:1666 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Ab... |
ORPHA:85167 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Microphthalmia |
OMIM:614497 |
| Axial Mesodermal Dysplasia Spectrum |
|
Aplasia/Hypoplasia of the lungs, Abnormal morphology of female internal genitalia, Morphological ... |
ORPHA:1834 |
| Fanconi Anemia, Complementation Group B |
|
Low-set ears, Esophageal atresia, Coarctation of aorta, Micropenis, Hypogonadism, Tracheoesophage... |
OMIM:300514 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Retinal detachment, Corneal opac... |
OMIM:610202 |
| Lipoid Proteinosis |
|
High palate, Nasal polyposis, Tongue nodules, Abnormal oral mucosa morphology, Microglossia, Abno... |
ORPHA:530 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
| 48,Xyyy Syndrome |
|
High palate, Irregularly spaced teeth, Enamel hypoplasia, Long philtrum, Recurrent upper respirat... |
ORPHA:99329 |
| Roberts-Sc Phocomelia Syndrome |
|
Polycystic kidney dysplasia, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, E... |
OMIM:268300 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Duane Retraction Syndrome |
|
Hearing impairment, Cleft palate, Short palpebral fissure, Preaxial hand polydactyly, Hypoplasia ... |
ORPHA:233 |
| Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
| 2Q37 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Highly arched eyebrow, Abnormal aortic morphology, Sparse eyebrow, T... |
ORPHA:1001 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Metaphyseal irregularity, Hypoplastic pelvis, Cone-shaped epiphyses of the p... |
OMIM:208500 |
| Wiedemann-Steiner Syndrome |
|
Epicanthus, Rhizomelia, Thick eyebrow, Abnormality of the hand, Short palpebral fissure, Dilatati... |
ORPHA:319182 |
| 19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Solitary median maxillary central incisor, Hearing impairment, Toe syn... |
ORPHA:217346 |
| Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Epicanthus, Protruding ear, Internal hemorrhage, Macule, Sleep apnea, Transient ... |
ORPHA:286 |
| Hypospadias-Intellectual Disability, Goldblatt Type Syndrome |
|
Synophrys, Abnormal palate morphology, Convex nasal ridge, Hypospadias |
ORPHA:2261 |
| Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation, Ataxia, Anxiety, Abnormal dental enamel morphology, Depression |
ORPHA:231169 |
| Hadziselimovic Syndrome |
|
Low-set ears, Pulmonary artery atresia, Anal atresia, High palate, Epicanthus, Tetralogy of Fallo... |
OMIM:612946 |
| Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
| Johanson-Blizzard Syndrome |
|
Oligodontia, Diabetes mellitus, Malabsorption, Absent lacrimal punctum, Hydronephrosis, Alopecia,... |
ORPHA:2315 |
| Rubinstein-Taybi Syndrome 2 |
|
Epicanthus, Thick eyebrow, Highly arched eyebrow, Narrow palate, Broad thumb, Hirsutism, Carious ... |
OMIM:613684 |
| Trisomy 8Q |
|
High palate, Cryptorchidism, Myelomeningocele, Upslanted palpebral fissure, Cleft palate, Hypopla... |
ORPHA:1752 |
| N Syndrome |
|
Cryptorchidism, Abnormal eyelid morphology, Hypospadias |
ORPHA:2608 |
| Craniofrontonasal Dysplasia |
|
Congenital pseudoarthrosis of the clavicle, Camptodactyly of finger, Brachydactyly, Down-sloping ... |
ORPHA:1520 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Mu... |
ORPHA:2059 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, U-Shaped upper lip vermilion, Anteverted nares, Hypoplasia of the primary teet... |
OMIM:234250 |
| Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy |
ORPHA:90654 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Microphthalmia |
ORPHA:2432 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Repeated pneumothoraces, Stroke, Hip dysplasia, Atelectasis, Carious teeth, Mitral valve prolapse... |
ORPHA:536467 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Oligodontia, Inguinal hernia, Selective tooth agenesis, Hypoplastic nipples, Hydroureter, Cleft p... |
OMIM:129900 |
| Floating-Harbor Syndrome |
|
Nephrocalcinosis, Glandular hypospadias, Carious teeth, Hydronephrosis, Cryptorchidism, Long eyel... |
OMIM:136140 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Microtia |
ORPHA:139450 |
| Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Hip dysplasia, Dysplastic pulmonary valve, Thin long bone diaphyses, Ent... |
ORPHA:3455 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
| Trisomy 4P |
|
Cryptorchidism, Abnormal palate morphology, Abnormality of the dentition, Thick eyebrow, Smooth p... |
ORPHA:1738 |
| Robinow Syndrome |
|
Broad nasal tip, Tooth malposition, Ankyloglossia, Clitoral hypoplasia, Bifid tongue, Broad alveo... |
ORPHA:97360 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:311895 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Igg4-Related Submandibular Gland Disease |
|
Abnormality of the submandibular glands, Abnormal salivary gland morphology, Periorbital edema, X... |
ORPHA:449432 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Aplasia/Hypop... |
ORPHA:1067 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydronephrosis, High palate, Cryptorchidism, Epicanthus, Ankyloglossia, Long philtrum, Wide nasal... |
ORPHA:250989 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Abnormal dentin morphology, Anterior open-bite malocc... |
OMIM:301200 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Deafness, X-Linked 2 |
|
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... |
OMIM:304400 |
| Iridocorneal Endothelial Syndrome |
|
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... |
ORPHA:64734 |
| Intestinal Botulism |
|
Dysphagia, Xerostomia, Diarrhea |
ORPHA:178481 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia |
OMIM:144300 |
| Meier-Gorlin Syndrome 1 |
|
Hearing impairment, Cleft palate, Narrow mouth, Short palpebral fissure, Aplasia/Hypoplasia of th... |
OMIM:224690 |
| Trisomy 1Q |
|
Camptodactyly of finger, Ambiguous genitalia, Ventricular septal defect, Cleft palate, Narrow mou... |
ORPHA:261344 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Hip dislocation, Asplenia, Ventricular septal defect, Horseshoe kidney, ... |
ORPHA:99776 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Colon cancer, Adenomatous colonic polyposis, Juvenile colonic pol... |
OMIM:610069 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Diabetes mellitus, Hepatomegaly, Hypertrophic cardiomyopathy, Aplasia/Hypoplasia ... |
ORPHA:2348 |
| Amelogenesis Imperfecta, Type If |
|
Abnormality of dental color, Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| 49,Xxxxy Syndrome |
|
Chronic otitis media, Epicanthus, Hip dislocation, Upslanted palpebral fissure, Cleft palate, Car... |
ORPHA:96264 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Ectopia pupillae, Cryptophthalmos, Epicanthus, Long eyelashes, Sclerocornea, Microcorne... |
OMIM:615877 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Epicanthus, Abnormal heart morphology, Smooth philtrum, Metaphyseal ... |
OMIM:263210 |
| Oculocutaneous Albinism Type 1 |
|
Blue irides, Hypoplasia of the fovea, Depigmented fundus, Iris hypopigmentation, Generalized hypo... |
ORPHA:352731 |
| 48,Xxxy Syndrome |
|
Chronic otitis media, Inguinal hernia, Hip dislocation, Epicanthus, Upslanted palpebral fissure, ... |
ORPHA:96263 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Congenital pseudoarthrosis of the clavicle, Elbow ankylosis, Anonychia, Aplasia/Hypoplasia of met... |
OMIM:276820 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Seckel Syndrome 5 |
|
Oligodontia, Cryptorchidism, High palate, Selective tooth agenesis, Prominent nasal bridge, Clito... |
OMIM:613823 |
| Pearson Syndrome |
|
Median cleft lip and palate, Diabetes mellitus, Hypoparathyroidism, Cardiomyopathy, Hepatomegaly,... |
ORPHA:699 |
| Degcags Syndrome |
|
Dysplastic pulmonary valve, Ambiguous genitalia, Abnormal eyebrow morphology, Abnormal spleen mor... |
OMIM:619488 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Epicanthus, Abnormal retinal vascular morphology, Synophrys, Downslanted palpebral fissures, Hete... |
ORPHA:1390 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Epicanthus, Narrow mouth, Sparse eyebrow, Sparse scalp hair, Lipodystrophy, Cryptorchidism, Pulmo... |
ORPHA:75496 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Multiple unerupted teeth, Aplasia/Hypoplasia of the lungs, Inguinal hernia, Cryptorchidism, Anal ... |
ORPHA:2063 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Anteverted ears, Microtia, first degree, Aplasia of th... |
OMIM:610706 |
| Hereditary Acrokeratotic Poikiloderma |
|
Keratoconjunctivitis, Oral leukoplakia, Gingival bleeding, Abnormality of the dentition, Abnormal... |
ORPHA:2907 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Tinnitus, Abnormal middle ear reflexes, Hearing impairment, Abnormal speech discrimination, Verti... |
OMIM:300614 |
| 8P23.1 Microdeletion Syndrome |
|
Epicanthus, Hypoplastic left heart, Tetralogy of Fallot, Proximal placement of thumb, Atrioventri... |
ORPHA:251071 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Microtia |
OMIM:612138 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Epicanthus, Cleft palate, Hypothyroidism, Cryptorchidism, Abnormality of fibula ... |
ORPHA:1812 |
| Congenital Varicella Syndrome |
|
Cataract, Microphthalmia |
ORPHA:291 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Inguinal hernia, Gingival bleeding, Epicanthus, Frontal open bite, Short toe, Hirsutism, Short ph... |
OMIM:225410 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Abruzzo-Erickson Syndrome |
|
Cleft palate, Hypospadias |
OMIM:302905 |
| Dyskeratosis Congenita |
|
Abnormal morphology of female internal genitalia, Abnormal eyebrow morphology, Diabetes mellitus,... |
ORPHA:1775 |
| Distal Deletion 6P |
|
Ectopia pupillae, Epicanthus, Downslanted palpebral fissures, Abnormal anterior chamber morpholog... |
ORPHA:96125 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Goiter, Tracheal stenosis, Abnormality of the pituitary gland, Nodular goiter, Ha... |
ORPHA:64744 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Shawl scrotum, Bifid uvula, Anteverted nares, Long philtrum, Thin vermilion border, Depressed nas... |
OMIM:615942 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Hip dislocation, Epicanthus, Hypoplastic nipples, Rocker bottom foot, Cleft pala... |
OMIM:265000 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
| Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Inflammation of the large intestine, Decr... |
OMIM:232220 |
| Erythermalgia, Primary |
|
Constipation, Xerostomia, Diarrhea, Hyperhidrosis |
OMIM:133020 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Facial telangiectasia in butterfly midface distribution, Thick vermilion border, Dermal transluce... |
OMIM:137940 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Microphallus, Testicular dysgenesis, C... |
OMIM:615542 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Conical tooth, Hypoplastic nipples, Xerostomia, Everted lower lip vermilion, Hypodontia, Anhidros... |
OMIM:614941 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Epicanthus, Bifid uvula, Cholestasis, Widely spaced teeth, Short metatarsal, Hepatomegaly, Rhizom... |
OMIM:266920 |
| Rhyns Syndrome |
|
Hypopituitarism, Hypoplastic ilia, Abnormal long bone morphology, Abnormality of the liver, Nephr... |
ORPHA:140976 |
| Cerebrocostomandibular Syndrome |
|
High palate, Epicanthus, Anteriorly placed anus, Short hard palate, Cleft lip, Renal cyst, Horses... |
OMIM:117650 |
| Cerebrocostomandibular Syndrome |
|
Spina bifida, Short hard palate, Hydranencephaly, Myelomeningocele, Meningocele, Cleft palate, Gl... |
ORPHA:1393 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Low-set ears, Long eyelashes, Coarctation of aorta, Cryptorchidism, Epicanthus, Atrial septal def... |
OMIM:615502 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
| Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Heterochromia iridis |
OMIM:143000 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Cryptorchidism, Micropenis, Bifid uvula, Umbilical hernia, Broad philtrum, Downslanted palpebral ... |
ORPHA:2872 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Delayed puberty, Ulnar deviation of the 3rd finger, Shawl scrotum, Hip dislocation, Proximal plac... |
OMIM:616263 |
| Zaki Syndrome |
|
Long fingers, Toe syndactyly, Hypoplasia of the phalanges of the toes, Sparse eyebrow, Cupped ear... |
OMIM:619648 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Widely spaced teeth, Xerostomia, Enamel hypoplasia, Carious teeth |
OMIM:620193 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Broad nasal tip, Epicanthus, Ankyloglossia, Widely spaced teeth, Thick eyebrow, Upslanted palpebr... |
OMIM:619950 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Woolly Hair |
|
Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Sparse lateral eyebrow, Hypopig... |
ORPHA:170 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Microphthalmia, Posterior embryotoxon, Axenfeld anomaly |
OMIM:609218 |
| Liver Disease, Severe Congenital |
|
Peritonitis, Inguinal hernia, Epicanthus, Status asthmaticus, Ventricular septal defect, Atrial s... |
OMIM:619991 |
| Meckel Syndrome |
|
Situs inversus totalis, Ambiguous genitalia, Asplenia, Urethral atresia, Cleft palate, Preaxial h... |
ORPHA:564 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Cleft palate, Gingival overgrowth, Ptosis, Hypospadias |
ORPHA:2013 |
| Schimke Immuno-Osseous Dysplasia |
|
Stroke, Transient ischemic attack, Hypoplastic pelvis, Abnormal femoral head morphology, Proteinu... |
ORPHA:1830 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Stillbirth, Abnorma... |
ORPHA:294975 |
| Wagner Vitreoretinopathy |
|
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... |
OMIM:143200 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Short distal phalanx of finger, Epicanthus, Atrial septal defect, Cleft palate, Cupped ear, Thin ... |
OMIM:614080 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
High palate, Cryptorchidism, Penoscrotal hypospadias, Micropenis, Glandular hypospadias, Bifid sc... |
ORPHA:456328 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Inguinal hernia, Epicanthus, Ventricular septal defect, Upslanted palpebral fissure, Hearing impa... |
OMIM:618454 |
| Abruzzo-Erickson Syndrome |
|
Cryptorchidism, Abnormal palate morphology, Epicanthus, Cleft palate, Coronal hypospadias, Abnorm... |
ORPHA:921 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Epicanthus, Bifid uvula, Ankyloglossia, Hypoplastic nipples, Bilateral choanal atresia, Choanal a... |
OMIM:620186 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Short upper lip, Ventricular septal defect, Rocker bottom foot, Cleft pa... |
ORPHA:1692 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Cleft palate, Microglossia, Diaphyseal thickening, Sparse hair, Cutaneous finger... |
OMIM:151050 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Microtia |
OMIM:618158 |
| Fg Syndrome Type 1 |
|
Inguinal hernia, Atrial septal defect, Small pituitary gland, Cupped ear, Single transverse palma... |
ORPHA:93932 |
| Xp22.13P22.2 Duplication Syndrome |
|
High palate, Polycystic ovaries, Umbilical hernia, Mandibular prognathia, Downslanted palpebral f... |
ORPHA:284180 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Microphthalmia |
OMIM:120433 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Prominent nose, Flexion contracture, Generalized hypoplasia of dental enamel, Carious teeth |
OMIM:203550 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Re... |
ORPHA:284454 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Thrombocytopenia, Iris hypopigmentation, Failure to thrive |
ORPHA:67048 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Bifid uvula, Flattened epiphysis, Webbed neck, Short phalanx of finger, ... |
OMIM:612350 |
| Coffin-Siris Syndrome 3 |
|
Macroglossia, High palate, Long eyelashes, Inguinal hernia, Umbilical hernia, Thick eyebrow, Dela... |
OMIM:614608 |
| Floating-Harbor Syndrome |
|
Polycystic kidney dysplasia, Oligodontia, Broad nasal tip, Nephrocalcinosis, Carious teeth, Hydro... |
ORPHA:2044 |
| Diamond-Blackfan Anemia 11 |
|
Unilateral radial aplasia, Eyelid coloboma, Bone marrow hypocellularity, Unilateral renal agenesi... |
OMIM:614900 |
| Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Mulibrey Nanism |
|
Hypoplastic frontal sinuses, Hydrops fetalis, Enamel hypoplasia, Dental crowding, Absent frontal ... |
OMIM:253250 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Carious teeth, Coronal hypospadias, Nasolacrimal duct obstruction, Hypop... |
OMIM:149730 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
| Smith-Lemli-Opitz Syndrome |
|
Tracheal stenosis, Epicanthus, Tooth agenesis, Hip dislocation, Ambiguous genitalia, Proximal pla... |
ORPHA:818 |
| Chromosome 16Q22 Deletion Syndrome |
|
High palate, Cryptorchidism, Epicanthus, Upslanted palpebral fissure, Short palpebral fissure, Hi... |
OMIM:614541 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
| Joubert Syndrome 26 |
|
Micropenis, Cleft lip, Decreased response to growth hormone stimulation test, Cleft palate, Antev... |
OMIM:616784 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Ataxia, Sensory axonal neuropathy, Bilateral ptosis, Optic atrophy, Depression |
ORPHA:329314 |
| Waardenburg Syndrome, Type 2E |
|
Hypoplasia of the semicircular canal, Dilated vestibule of the inner ear, Sensorineural hearing i... |
OMIM:611584 |
| Birdshot Chorioretinopathy |
|
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... |
ORPHA:179 |
| Ulnar-Mammary Syndrome |
|
Delayed puberty, Camptodactyly of finger, Absent hand, Short distal phalanx of finger, Abnormalit... |
ORPHA:3138 |
| Chromosome Xq21 Deletion Syndrome |
|
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... |
OMIM:303110 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Unilateral radial aplasia, High palate, Abnormality of the dentition, Eruption failure, Epicanthu... |
ORPHA:476126 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Prominent antihelix, Epicanthus, Thick eyebrow, Hearing impairment, Hirsutism, Single transverse ... |
ORPHA:466950 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Abnormal antih... |
ORPHA:79113 |
| Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibular a... |
OMIM:113650 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
High palate, Retrognathia, Enamel hypoplasia |
OMIM:617915 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Micropenis, Selective tooth agenesis, Vaginal dryness, Supernumerary nipple, Widel... |
OMIM:106260 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Epicanthus, Agenesis of permanent teeth, Ventricular septal defect, Hypoplastic right heart, Upsl... |
OMIM:616894 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Vacuolated lymphocytes, Macular degeneration, Anxiety, Loss of ambulation, Retinal dege... |
OMIM:204200 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Hyperhidrosis, Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
| Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... |
ORPHA:69736 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Scle... |
OMIM:604229 |
| Coffin-Siris Syndrome 1 |
|
Inguinal hernia, Anonychia, Facial hypertrichosis, Short distal phalanx of the 5th toe, Tetralogy... |
OMIM:135900 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in childhood, Inguinal hernia, Atelectasis, Morgagni diaphragmatic hernia, Patent foramen o... |
OMIM:613177 |
| Eec Syndrome |
|
Tooth agenesis, Proximal placement of thumb, Entropion, Thick eyebrow, Urethral atresia, Cleft pa... |
ORPHA:1896 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Widely spaced teeth, Upslanted palpebral fissure, Cleft palate, Sparse... |
OMIM:612530 |
| Waardenburg Syndrome, Type 4A |
|
Blue irides, Ataxia, Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon... |
OMIM:277580 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Hip dysplasia, Atrial septal defect, Abnormality of the temporomandibular joint,... |
ORPHA:536471 |
| Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Chorioretinal colob... |
ORPHA:137902 |
| Prune Belly Syndrome |
|
Anal atresia, Cryptorchidism, Oligohydramnios, Xerostomia |
OMIM:100100 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short distal phalanx of finger, Epicanthus, Hip dysplasia, Widely spaced teeth, Thick eyebrow, La... |
OMIM:619293 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Anteverted nares, Midline defect of the nose, Ptosis, Short hard palate |
ORPHA:1969 |
| Iatrogenic Botulism |
|
Dysphagia, Xerostomia, Constipation |
ORPHA:254509 |
| Intermediate Uveitis |
|
Cataract, Vitreous floaters, Optic neuritis, Vitreous haze, Vitreous snowballs, Epiretinal membra... |
ORPHA:279914 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Cryptorchidism, Abnormal palate morphology, Hypoplasia of penis, Hypospadias |
ORPHA:1381 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Holoprosencephaly |
|
Aplasia/Hypoplasia of the lungs, Abnormal pulmonary valve morphology, Tooth agenesis, Epicanthus,... |
ORPHA:2162 |
| Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, White ... |
OMIM:613265 |
| Bardet-Biedl Syndrome 18 |
|
Cataract, Obesity, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Abnormal pupil morphology, Decreased nerve conduction velocity, Periph... |
ORPHA:101082 |
| Norrie Disease |
|
Cataract, Retinal detachment, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Reti... |
OMIM:310600 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Diabetes mellitus, Proximal upper limb muscle hypertrophy, Hepatomegaly, Supraventricular arrhyth... |
ORPHA:280365 |
| Progressive Hemifacial Atrophy |
|
Ptosis, Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
| Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Bilateral microphthalmos, Anophthalmia, Iris coloboma, Microphthalmia |
OMIM:611638 |
| Microtia |
|
Abnormal pinna morphology, Hypoplastic helices, Atresia of the external auditory canal, Anotia, M... |
ORPHA:83463 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short distal phalanx of finger, Inguinal hernia, Epicanthus, Enlarged kidney, Duplication of rena... |
OMIM:312870 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Chorioretinal dysplasia, Epicanthus, Astigmatism, Downslanted palpebral fissures, Retin... |
OMIM:152950 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Aplasia/Hypoplasia of the middle ear, Anotia, Conductive hearing impairment, Microtia |
OMIM:251800 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Oligodontia, Epicanthus, Enlarged kidney, Polydactyly, Atrial septal defect, A... |
OMIM:615873 |
| Peutz-Jeghers Syndrome |
|
Multiple renal cysts, Abnormal pigmentation of the oral mucosa, Macule, Rectal prolapse, Cervix c... |
ORPHA:2869 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Micropenis |
OMIM:602361 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Low-set ears, Cryptorchidism, Coarctation of aorta, Micropenis, High palate, Dextrocardia, Synoph... |
OMIM:618929 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Abnormality of dental eruption, Hip dislocation, Tetralogy of Fallot, Abnormal heart morphology, ... |
ORPHA:96092 |
| Coxoauricular Syndrome |
|
Microtia, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1508 |
| Dubowitz Syndrome |
|
Epicanthus, Protruding ear, Malabsorption, Hypoparathyroidism, Acute lymphoblastic leukemia, Hear... |
ORPHA:235 |
| Waardenburg Syndrome, Type 4C |
|
