Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive... |
ORPHA:90646 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Chromosome Xq21 Deletion Syndrome |
|
Chorioretinal degeneration, Choroideremia, Chorioretinal atrophy, Conductive hearing impairment, ... |
OMIM:303110 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... |
ORPHA:3232 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Decreased response to growth hormone stimulation test, Dilatated intern... |
ORPHA:1435 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Positive Romberg sign,... |
OMIM:616515 |
Usher Syndrome Type 1 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... |
ORPHA:231169 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy, Hearing impairment |
OMIM:619090 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Ataxia, Small for gestational age, Poor appetite, Aggressive behavior, Inabil... |
OMIM:617799 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Optic atrophy |
ORPHA:1513 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
Porphyria, Acute Intermittent |
|
Urinary incontinence, Dysuria, Abdominal pain, Diarrhea, Depression, Paralytic ileus, Constipatio... |
OMIM:176000 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Enlarged vestibular aqueduct |
ORPHA:79414 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis |
OMIM:184460 |
Usher Syndrome Type 3 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I... |
ORPHA:231183 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Restlessness, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria... |
ORPHA:79276 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... |
ORPHA:52368 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ... |
ORPHA:79113 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k... |
ORPHA:369 |
Pendred Syndrome |
|
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... |
ORPHA:705 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Brain atrophy, Pneumonia, Cerebral atrophy |
ORPHA:85179 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti... |
ORPHA:50815 |
Crouzon Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Chiari malformation, Conjunctivitis... |
ORPHA:207 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis... |
OMIM:616648 |
Branchiootic Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... |
ORPHA:52429 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Abdominal colic, Proteinuria, Dysuria, Recurrent urinary tract infections, C... |
ORPHA:976 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, EEG abnormal... |
OMIM:610951 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment |
ORPHA:2669 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Pigmentary retinopathy, Sensorineural hearing impairment, Ataxia |
OMIM:619473 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Abnormal amplitude of pattern reversa... |
OMIM:125250 |
Fatal Familial Insomnia |
|
Ataxia, Weight loss, Urinary retention, Constipation, Dysphagia |
OMIM:600072 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Anterior hypopituitarism, Ataxia, Hearing impairment |
ORPHA:480 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... |
ORPHA:95433 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaq... |
ORPHA:2584 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... |
OMIM:617879 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
ORPHA:320401 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal cerebellar peduncle morphology, Recurrent urinary tract infections, Ataxia, Malnutrition... |
ORPHA:99027 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Diarrhea, Skin ulcer, Weight loss, Leukopenia, Failure to thrive, Anemia |
ORPHA:33355 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Necrobiosis Lipoidica |
|
Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atrophic scars, Granuloma, Annular cutaneous... |
ORPHA:542592 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Ataxia, Proteinuria, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Atheto... |
ORPHA:834 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Aplasia/Hyp... |
ORPHA:1466 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Sensorineural hearing ... |
ORPHA:791 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Obesity, Depression |
OMIM:103200 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Cachexia, Abdominal pain, Abdominal distention, Gastrointe... |
OMIM:613662 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Conductive hearing impairment, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... |
ORPHA:644 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, EEG abnormality, Abnormality of visual evoked... |
ORPHA:141 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Impulsivity, Hypoplasia of the pons, Dysphagia, Rhombencephalosynap... |
ORPHA:280195 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Low-set ears, ... |
OMIM:264470 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Ramon Syndrome |
|
Conductive hearing impairment, Abnormality of retinal pigmentation, Sensorineural hearing impairment |
ORPHA:3019 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Bohring-Opitz Syndrome |
|
Nephroblastoma, Feeding difficulties in infancy, Inability to walk, Synophrys, Naevus flammeus of... |
ORPHA:97297 |
Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Urinary incontinence, Bowel incontinence, Unsteady gait, Functional abnormali... |
ORPHA:79093 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Corpus callosum atrophy, Retinal pigment epithelia... |
OMIM:619389 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Cholesteatoma |
OMIM:614113 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Purple urine, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal distenti... |
ORPHA:100924 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Abn... |
ORPHA:1215 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia, Cerebellar hypoplasia |
ORPHA:2246 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Constipation, Urinary retention, Dysphagia |
ORPHA:1267 |
Developmental And Epileptic Encephalopathy 63 |
|
Conductive hearing impairment, Cerebral cortical atrophy, EEG with generalized epileptiform disch... |
OMIM:617976 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Conductive hearing impairment, Cerebral atrophy |
OMIM:618497 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary retention, Pseudobulbar paralysis, Gait disturbance, Urinary incontinence |
OMIM:616586 |
Joubert Syndrome 4 |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Abnormal renal medulla morphology, Sta... |
OMIM:609583 |
Hereditary Progressive Mucinous Histiocytosis |
|
Erythematous macule, Mucinous histiocytosis, Erythematous papule |
ORPHA:158025 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Aplasia/Hypoplasia of the ce... |
ORPHA:65 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the outer ear |
ORPHA:2515 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Constipation, Urinary retention, Dysphagia |
ORPHA:228371 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea, Subcutaneous nodule, Skin u... |
ORPHA:231 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potenti... |
OMIM:619260 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne... |
ORPHA:2549 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Urinary incontinence, Cachexia, Dysmetria, Gait ataxia, Depression, I... |
OMIM:618093 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Pigmentary retinopathy, Rod-cone dystrophy, Ataxia |
ORPHA:1178 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Impaired vibratory sensation, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:610738 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy, Low-set ears |
OMIM:616606 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Sensorineural hearing impairment, Blue sclerae, Heterochromia iridis |
ORPHA:66633 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... |
OMIM:618144 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... |
ORPHA:2585 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Skin rash, Abnormal auditory evoked potentials, ... |
OMIM:617523 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy,... |
OMIM:256600 |
Distal Deletion 10Q |
|
Ataxia, Congenital sensorineural hearing impairment, Cochlear malformation, Protruding ear, Facia... |
ORPHA:96148 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of neutrophils, Thrombocyto... |
ORPHA:229717 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Weight loss, Neoplasm of the liver, Urinary retention, Constipation |
ORPHA:2126 |
Coach Syndrome 3 |
|
Renal insufficiency, Ataxia, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial ... |
OMIM:619113 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Portal ... |
OMIM:619111 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... |
ORPHA:79404 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Small intestinal dysmotility, Poor appetite, Abdominal pain, Cache... |
ORPHA:298 |
Abruzzo-Erickson Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Chorioretinal coloboma, Conductive hearing impa... |
ORPHA:921 |
Mevalonic Aciduria |
|
Low-set, posteriorly rotated ears, Blue sclerae, Ataxia, Cerebral cortical atrophy |
ORPHA:29 |
Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment |
ORPHA:3246 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Abdominal distention, Irritability, Difficulty walking |
ORPHA:79097 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Stage 5 chronic kidney disease, H... |
OMIM:610688 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Chiari malformation, Conductive hearing impa... |
ORPHA:93262 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Glo... |
ORPHA:91138 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydronephrosis |
OMIM:617127 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Skin ulcer, Hepatosplenomeg... |
ORPHA:231226 |
Benign Cephalic Histiocytosis |
|
Papule, Histiocytosis |
ORPHA:157997 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Thrombocytopenia, Chronic diarrhea, Hypopigmente... |
ORPHA:47 |
Branchiogenic-Deafness Syndrome |
|
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... |
OMIM:609166 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritabilit... |
ORPHA:248111 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Microtia |
OMIM:248910 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Weight loss |
ORPHA:52416 |
Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Pigmentary retinopathy, ... |
OMIM:520000 |
Wound Botulism |
|
Urinary retention, Constipation, Dysphagia |
ORPHA:178475 |
Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Restlessness, Abnormal medulla oblongata morphology, Ataxia, Abno... |
ORPHA:68 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:2028 |
Slc35A2-Cdg |
|
Elevated hepatic transaminase, Cerebellar atrophy, Failure to thrive in infancy, Abnormal midbrai... |
ORPHA:356961 |
Iatrogenic Botulism |
|
Urinary retention, Constipation, Dysphagia |
ORPHA:254509 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention, Hirsutism |
ORPHA:2795 |
Joubert Syndrome 10 |
|
Feeding difficulties in infancy, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hirsutism |
OMIM:300804 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Frontal balding, Bowel incontinence, Fine hair, Urinary urgency, Adrenocort... |
ORPHA:139399 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Ataxia, Urinary incontinence, Skin ulcer, Gait disturbance, Urinary bladder s... |
ORPHA:206583 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Dry hair, Renal insufficiency, Neurogenic bladder, H... |
ORPHA:90324 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... |
ORPHA:231214 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Takayasu Arteritis |
|
Anorexia, Subcutaneous nodule, Skin ulcer, Weight loss, Gastrointestinal infarctions, Anemia |
ORPHA:3287 |
Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigmentary retinopathy, Atte... |
OMIM:204000 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Hyperimid... |
OMIM:170100 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention, Polycystic liver disease, Renal cyst |
OMIM:174050 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Abnormal retinal vascular... |
ORPHA:1390 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Low-set ears |
OMIM:618672 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment |
OMIM:618939 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Constipation, Urinary retention |
ORPHA:254504 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Conductive hearing... |
OMIM:616726 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Multiple Synostoses Syndrome 1 |
|
Conductive hearing impairment, Stapes ankylosis, Bilateral conductive hearing impairment, Progres... |
OMIM:186500 |
Joubert Syndrome 20 |
|
Aggressive behavior, Inability to walk, Renal cyst, Molar tooth sign on MRI, Self-mutilation |
OMIM:614970 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Toxic Epidermal Necrolysis |
|
Macule, Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Elevated hepatic... |
ORPHA:537 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Cryptorchidism, Sensorineural hearing im... |
ORPHA:3085 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Stage 5 chronic kidney disease, Late... |
OMIM:608629 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Aspiration pneumonia, Hea... |
OMIM:619057 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Depression, Irritability, Enur... |
ORPHA:66624 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss, Ami... |
ORPHA:79238 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Hemophagocytosis, Erythematous ... |
ORPHA:86884 |
Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Renal cyst, Horseshoe kidney, Intrahepatic biliary atresia, Molar ... |
OMIM:614815 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Abdominal distention, Spleno... |
ORPHA:75233 |
Diprosopus |
|
External ear malformation, Abnormality of retinal pigmentation |
ORPHA:1681 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia... |
ORPHA:822 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Sensorineural hearing imp... |
ORPHA:44 |
Flynn-Aird Syndrome |
|
Alopecia, Ataxia, Cachexia, Skin ulcer, Dermal atrophy |
ORPHA:2047 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Papule, Erythema, Skin ulcer |
ORPHA:2337 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic... |
ORPHA:949 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Gait disturbance, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Apert Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal semicircular canal morphology, Chiari m... |
ORPHA:87 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Cryptorchidism, Low-set ears |
OMIM:616910 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Low-set ears |
OMIM:614701 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... |
OMIM:240300 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
High-frequency sensorineural hearing impairment, Blue sclerae, Low-set ears |
ORPHA:2324 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Limited Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Hypopigmented skin patches, Skin ulcer, Gastroesophageal reflux, Dysphagia |
ORPHA:220402 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Rhabdoid Tumor |
|
Nausea and vomiting, Renal neoplasm, Poor appetite, Abdominal pain, Thrombocytopenia, Subcutaneou... |
ORPHA:69077 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Anorexia, Cachexia, Feeding difficulties in infancy, Splenom... |
ORPHA:1328 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia, Polycystic kidney dysplasia |
OMIM:617562 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Weight loss, Gastr... |
ORPHA:2198 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin skin |
ORPHA:2500 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer |
ORPHA:31112 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Ataxia, Recurrent urinary tract infec... |
OMIM:618161 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Papular Xanthoma |
|
Skin plaque, Eruptive xanthomas, Histiocytosis |
ORPHA:158008 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, Ataxia, Aganglionic megacolon, Short-segmen... |
OMIM:609136 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Blue sclerae, Aplasia/Hypoplasia of the cerebe... |
ORPHA:2772 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... |
ORPHA:100084 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysmetria, Gait ataxia, Undetectable vis... |
OMIM:601338 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Zechi-Ceide Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal earlobe morphology, Microtia, Abnormal helix morphology, L... |
ORPHA:217017 |
Polyarteritis Nodosa |
|
Abnormality of the kidney, Abdominal pain, Erythema, Subcutaneous nodule, Skin ulcer, Weight loss |
ORPHA:767 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy, Limb dysmetria, Hearing impairment |
ORPHA:329336 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Cupped ear, Limb ataxia, Blue sclerae, Low-set ears, Truncal ataxia, Overfolded helix, Cerebellar... |
OMIM:617101 |
Histiocytosis, Progressive Mucinous |
|
Mucinous histiocytosis |
OMIM:142630 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Spinocerebellar Ataxia 7 |
|
Chorea, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular degeneration, Pigmentary... |
OMIM:164500 |
Idiopathic Achalasia |
|
Weight loss, Malnutrition, Gastroesophageal reflux, Dysphagia |
ORPHA:930 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Sensorineural h... |
ORPHA:2789 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Sepsis In Premature Infants |
|
Gastrointestinal dysmotility, Vomiting, Pallor, Neutropenia, Hepatomegaly, Leukocytosis, Oliguria... |
ORPHA:90051 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Low-set ears, Abnormality of vi... |
ORPHA:2971 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment |
OMIM:174810 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chr... |
OMIM:619858 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Aganglionic megacolon, Recurrent pneumonia, Hypsarrhythmia, Chiari typ... |
ORPHA:798 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology |
OMIM:214300 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Highly arched eyebrow |
OMIM:618763 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hearing impairment |
ORPHA:858 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Neoplasm of the anterior pituitary, Vertigo, Pituitary hyp... |
ORPHA:54595 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Chilblain Lupus |
|
Erythematous papule, Skin ulcer, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Vomiting, Hepatic fibrosis, Hepatic st... |
OMIM:278000 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith... |
ORPHA:448237 |
Giant Cell Arteritis |
|
Alopecia, Renal insufficiency, Ataxia, Anorexia, Abdominal pain, Skin ulcer, Depression, Hematuri... |
ORPHA:397 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Cerebral atrophy, Blue sclerae, Low-set ears |
OMIM:619286 |
Otofaciocervical Syndrome |
|
Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive... |
ORPHA:2792 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... |
OMIM:245200 |
Ciliary Dyskinesia, Primary, 38 |
|
Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Conductive hearing impairment, Chro... |
OMIM:618063 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti... |
ORPHA:90003 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Failure to thrive, Poor appetite, Anorexia, Erythema, Chro... |
ORPHA:37 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte... |
OMIM:216360 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Abnormal helix morphology |
ORPHA:1259 |
Rhyns Syndrome |
|
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Pituitar... |
OMIM:602152 |
Prolidase Deficiency |
|
Hepatomegaly, Recurrent cystitis, Aplasia/Hypoplasia of the skin, Splenomegaly, Erythema, Low ant... |
ORPHA:742 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Ataxia |
ORPHA:2579 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal thalamic MRI signal intensity, Vomiting, Dysphagia... |
ORPHA:363717 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Inability to walk, Penetrating foot ulcers, Skin ulcer, Steppage gait, Gastroesophageal reflux, G... |
ORPHA:36386 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, Ret... |
OMIM:551500 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis |
OMIM:235900 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cerebellar vermis hypopla... |
ORPHA:2510 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Cryptorchidism, Sensorineural hearing impairment, Gait ataxia, Blue sclerae, Truncal ataxia, Macr... |
OMIM:616817 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... |
ORPHA:251061 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Abnormal cerebellum morphology, Abnormal brainstem morpholo... |
ORPHA:1532 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Pyoderma gangrenosum, Neutropenia, B lym... |
OMIM:150550 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Protruding ear, Aplasia/Hypoplasia of the cer... |
ORPHA:2518 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Azoospermia, Focal T2 hy... |
OMIM:613724 |
Lichen Planopilaris |
|
Alopecia, Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Papule |
ORPHA:525 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Pollakisuria, Tip-toe gait, Urinary retention, Spastic gait |
ORPHA:447760 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hypopig... |
ORPHA:2715 |
Marshall-Smith Syndrome |
|
Conductive hearing impairment, Blue sclerae, Optic atrophy, Cerebellar hypoplasia |
ORPHA:561 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Interhypothalamic adhesion, Low-set ears, Thickened hel... |
OMIM:618929 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:141400 |
Gorham-Stout Disease |
|
Chiari type I malformation, Osteomyelitis, Abnormality of the internal auditory canal, Hearing im... |
ORPHA:73 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Depression, Weight loss, Polydipsia, Failure to thrive, ... |
ORPHA:178029 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of the pons, Sensorineural hearing impairment, Op... |
ORPHA:1493 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Craniometaphyseal Dysplasia |
|
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... |
ORPHA:1522 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Cranial nerve compression, Paroxysmal vertigo, Cond... |
ORPHA:94080 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Sacral dimple, Hypospadias, Malformation of the hepatic ductal plate, R... |
OMIM:614175 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, Cryptorchidism, External ear malformation, Sensorineural hearing impairm... |
ORPHA:794 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Macrotia, Undetectable visual... |
ORPHA:436245 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Neoplasm of the pancreas, Abnormal superior cerebellar peduncle morphology, ... |
ORPHA:370348 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Redundant neck skin, Cerebellar vermis hypoplasia, Gastroesophageal reflux, Molar tooth sign on M... |
ORPHA:397715 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Colitis, Thrombocytosi... |
OMIM:604416 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Proteinuria, Hypermelanotic macule, Microscopic hematuria, Minimal change glom... |
ORPHA:1830 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Undetectab... |
ORPHA:163961 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Abdominal pain, Diarrhea, Pyoderma gangren... |
ORPHA:486 |
Microscopic Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Renal insufficiency, Glomerulopathy, Abdominal ... |
ORPHA:727 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Congenital stationary night blindness, Abnormal pituitary gland... |
ORPHA:314621 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Cach... |
ORPHA:83469 |
Huntington Disease |
|
Decreased body mass index, Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Dep... |
ORPHA:399 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hemophagocytosis, Melanin pigment aggregation in hair shafts, Hepatosplenomegaly |
OMIM:607624 |
Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Abnormal proportio... |
ORPHA:443811 |
Mevalonic Aciduria |
|
Cerebellar atrophy, Optic disc pallor, Agenesis of cerebellar vermis, Posteriorly rotated ears, A... |
OMIM:610377 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Gait ataxia, Feeding difficulties, Weight loss, Aminoaciduria, Proximal tubul... |
OMIM:612075 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea |
OMIM:166780 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hypoplasia of the pons, Senso... |
OMIM:620155 |
Ollier Disease |
|
Anemia, Subcutaneous nodule, Skin ulcer |
ORPHA:296 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:133705 |
Chronic Hiccup |
|
Weight loss, Depression, Malnutrition, Abnormal eating behavior |
ORPHA:396 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Melanocytic nevus, Optic atrophy, Hearing impairment |
ORPHA:2801 |
Lead Poisoning |
|
Small for gestational age, Anorexia, Abdominal pain, Abdominal distention, Chronic kidney disease... |
ORPHA:330015 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding di... |
ORPHA:141152 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Obesity, Hydronephrosis, Sparse hair, Micropenis, Mol... |
OMIM:619185 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Skin vesicle, Mac... |
ORPHA:1775 |
Christianson Syndrome |
|
Cerebellar atrophy, Cachexia, Feeding difficulties in infancy, Truncal ataxia, Gait ataxia, Gastr... |
ORPHA:85278 |
Multicentric Reticulohistiocytosis |
|
Skin nodule, Cachexia, Histiocytosis |
ORPHA:139436 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Poor appetite, Skin ulcer, Weight loss |
ORPHA:312 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Eczema, Impaired pain sensation, Cryptorchidism, Anterior creases of earlobe, ... |
ORPHA:314389 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology, Lateral ventricle dila... |
ORPHA:300573 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
ORPHA:2213 |
Arima Syndrome |
|
Cerebellar vermis hypoplasia, Brainstem dysplasia, Hypoplasia of the brainstem, Hepatic fibrosis,... |
OMIM:243910 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Thromboc... |
ORPHA:905 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology, Ataxia, Large for gestational age |
OMIM:617757 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Bilateral conductive hearing impairment, Low-set ears, Inte... |
OMIM:617802 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Failure to thrive, Elevated circulating aspartate aminotransfera... |
ORPHA:2088 |
Stickler Syndrome, Type I |
|
Retinal detachment, Sensorineural hearing impairment, Osteoarthritis, Arthritis, Vitreoretinopath... |
OMIM:108300 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Elevated hepatic transaminase, Anorexia, Abdominal pain, Jaundice, Chronic d... |
ORPHA:65682 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hemolytic anemia, Hepatomegaly,... |
OMIM:619487 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Anorexia, Weight loss |
ORPHA:2023 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Azoospermia, Cerebellar cyst |
OMIM:601076 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Optic atrophy, Gait ataxia, Blue sclerae, Low-set ears |
OMIM:619383 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Conductive hearing impairment, Abnormal antihelix morphology |
ORPHA:3145 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Aplasia cutis congenita on trunk or limbs, Abnormality of the urethra, Scarring ... |
ORPHA:158684 |
Acrocephalopolydactyly |
|
Abnormal renal morphology, Protuberant abdomen, Hepatosplenomegaly |
ORPHA:221054 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Microtia |
ORPHA:398156 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Failure to thrive, Abnormal brainstem morphology, Abnormal cerebellu... |
ORPHA:255182 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Athetosis, Blue sclerae, Cerebell... |
ORPHA:357058 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Choles... |
ORPHA:95427 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pig... |
OMIM:275400 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Microtia, Unilateral cryptorchidism, Atresia of the external audit... |
OMIM:300946 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, EEG abnormal... |
ORPHA:480898 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Vomiting, Acral... |
OMIM:256810 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Optic atrophy, Choreoathetosis, Abnormality of visual evoked potentials, Cerebral cortica... |
ORPHA:702 |
Coffin-Siris Syndrome 6 |
|
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:617808 |
Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Ataxia, Thickened helices, Abnormality of the middle ear ossicles, Sens... |
ORPHA:581 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Question mark ear, Bilateral conductive hearing impairment |
OMIM:615706 |
Adult Krabbe Disease |
|
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Ur... |
ORPHA:206448 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... |
ORPHA:101085 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Neph... |
ORPHA:35710 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... |
ORPHA:100085 |
Parkes Weber Syndrome |
|
Skin ulcer, Nephrotic syndrome, Erythematous plaque, Abnormality of the urinary system, Urinary r... |
ORPHA:90307 |
Letterer-Siwe Disease |
|
Abdominal distention, Jaundice, Thrombocytopenia, Hepatosplenomegaly, Irritability, Pallor, Neutr... |
OMIM:246400 |
Glucose/Galactose Malabsorption |
|
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Failure to thrive |
OMIM:606824 |
Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Feeding difficu... |
ORPHA:220497 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retinop... |
ORPHA:3363 |
Schimke Immunoosseous Dysplasia |
|
Macule, Waddling gait, Pancytopenia, Renal insufficiency, Proteinuria, Hypermelanotic macule, Sma... |
OMIM:242900 |
Joubert Syndrome 1 |
|
Hyperactivity, Cerebellar vermis hypoplasia, Ataxia, Brainstem dysplasia, Highly arched eyebrow, ... |
OMIM:213300 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Adrenocorticotropic hormone excess, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Ataxia, Renal arter... |
OMIM:615688 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Large earlobe, Blue sclerae, Overfolded helix,... |
ORPHA:628 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Ataxia, Abdominal pain, Abdominal dis... |
OMIM:212750 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conductive hearing impairment |
ORPHA:1997 |
Oculoskeletodental Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal thalamus morphology, He... |
ORPHA:557003 |
Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Chiari type I m... |
OMIM:130720 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Abnormality of the kidney, Abnormal hair morpho... |
ORPHA:2591 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Abdominal distention, Diarrhea, Thrombocytopenia, Cholestasis, Vomiting, Decreased ... |
OMIM:608104 |
Acrootoocular Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperpigmented nevi, Sensorineural hearing... |
ORPHA:2980 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Constipation, P... |
ORPHA:226313 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Fundus atrophy, Absent foveal reflex, Pigmentary... |
OMIM:204100 |
Acute Transverse Myelitis |
|
Gastroparesis, Abscess, Urinary incontinence, Paralytic ileus, Constipation, Gait disturbance, Ur... |
ORPHA:139417 |
Thyroid Hemiagenesis |
|
Abdominal distention, Jaundice, Constipation |
ORPHA:95719 |
Joubert Syndrome 7 |
|
Ataxia, Brainstem dysplasia, Stage 5 chronic kidney disease, Renal cyst, Hypoplasia of the brains... |
OMIM:611560 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Skin ulcer |
ORPHA:217390 |
Tenosynovial Giant Cell Tumor |
|
Conductive hearing impairment, Abnormality of the tympanic membrane, Multiple lentigines, Abnorma... |
ORPHA:66627 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, T2 hypointen... |
ORPHA:1947 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Abdominal distention, Dysplastic corpus callosum, Hypochromic microcytic anemia, Fa... |
OMIM:619423 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold, Protruding ear |
OMIM:108145 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Wilson Disease |
|
Acute hepatic failure, Aminoaciduria, Vomiting, Hepatic steatosis, Hemolytic anemia, Hepatomegaly... |
OMIM:277900 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Abnormal antit... |
ORPHA:3082 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Trisomy 8P |
|
Posteriorly rotated ears, Cryptorchidism, Aplasia/Hypoplasia of the tragus, Blue sclerae, Conduct... |
ORPHA:264450 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,... |
ORPHA:51890 |
Osteogenesis Imperfecta, Type Xix |
|
Blue sclerae, Hearing impairment |
OMIM:301014 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Abnormality of the ear, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dy... |
OMIM:268020 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Atrophy of the spinal cord, Abnormality of pattern visual evoked... |
ORPHA:2822 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Leigh Syndrome |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:256000 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progres... |
ORPHA:309256 |
Chromosome 18Q Deletion Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Chorea, Sensorineural hear... |
OMIM:601808 |
Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Blue sclerae |
ORPHA:1425 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Anorexia, Weight loss |
ORPHA:86893 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Conductive hearing impairment, Overfolded helix, Blue sclerae, Low-set ears |
OMIM:617412 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Cupped ear, Microtia, Conductive hearing impairment, Abnormali... |
ORPHA:246 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Pigmentary retinopathy, Blue sclerae,... |
OMIM:612582 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Blue sclerae, White forelock |
ORPHA:2475 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Alopecia, Renal insufficiency, Proteinuria, Abdominal pain, Abdominal distention, Dia... |
ORPHA:93552 |
Acute Radiation Syndrome |
|
Diarrhea, Skin ulcer, Vomiting, Dermal atrophy, Scaling skin, Granulocytopenia, Lymphopenia, Thro... |
ORPHA:454831 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Blue sclerae, Cerebral atrophy, Protruding ear |
OMIM:615539 |
Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Low-set ears |
OMIM:136760 |
Craniosynostosis And Dental Anomalies |
|
Stapes ankylosis, Papilledema, Absent malleus, Chiari malformation, Conductive hearing impairment... |
OMIM:614188 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Dysmetria, Progressive cerebellar ataxia, Dysdiad... |
ORPHA:502423 |
Donohue Syndrome |
|
Hypermelanotic macule, Abdominal distention, Long penis, Cholestasis, Pancreatic islet-cell hyper... |
OMIM:246200 |
Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain |
ORPHA:48686 |
Developmental And Epileptic Encephalopathy 28 |
|
Blue sclerae, Optic atrophy, Cerebral atrophy, Retinal degeneration |
OMIM:616211 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Dandy-Walker malformation, Renal cyst, Nephronophthisis |
OMIM:614465 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Small Bowel Atresia |
|
Abdominal distention, Failure to thrive, Vomiting, Feeding difficulties |
ORPHA:1201 |
Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Renal insufficiency, Oliguria, Skin ulcer, Gastroesophageal reflux, Dysphagi... |
ORPHA:220393 |
Cleft Velum |
|
Recurrent otitis media, Conductive hearing impairment, Aspiration pneumonia |
ORPHA:99772 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Cerebellar calcifications, Vertigo, Chorea, Athetosis, Thalamic calcification |
OMIM:615483 |
Mandibulofacial Dysostosis With Alopecia |
|
Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, Stenosis of th... |
OMIM:616367 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Hyperactivity, Hypospadias, Large for gestational age, Hypopigmented skin patches, Ga... |
ORPHA:457485 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Obesity, Weight loss, Urinary retention, Constipation |
ORPHA:79102 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling, Sensorineural hearing impairment |
OMIM:234580 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Alpha-Mannosidosis, Adult Form |
|
Cerebellar atrophy, Optic disc pallor, Mixed hearing impairment, Ataxia, Pneumonia, Subcortical c... |
ORPHA:309288 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Chiari malformatio... |
OMIM:609053 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Skin rash |
ORPHA:290 |
Osteogenesis Imperfecta, Type Xiv |
|
Sensorineural hearing impairment, Blue sclerae |
OMIM:615066 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Reynolds Syndrome |
|
Hepatomegaly, Jaundice, Skin ulcer, Gastroesophageal reflux, Cirrhosis, Dysphagia |
ORPHA:779 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropa... |
ORPHA:100024 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebellar vermis hypoplasia, Facial palsy, Cryptorchidism, Pigmentary retinopathy, Abnormal pons... |
ORPHA:370968 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Malakoplakia |
|
Proteinuria, Dysuria, Abdominal pain, Urinary bladder inflammation, Diarrhea, Subcutaneous nodule... |
ORPHA:556 |
Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Atresia of the external auditory ca... |
ORPHA:1488 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Ataxia |
ORPHA:1861 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis, Renal hypoplasia |
OMIM:615665 |
Joubert Syndrome 14 |
|
Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebellar vermis, Highly arched eyebrow, Renal... |
OMIM:614424 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Weight loss, Thrombocytosis, ... |
OMIM:209950 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia, Abnormality of vis... |
ORPHA:1933 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Weight loss, Irritability, Cholestati... |
ORPHA:92050 |
Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Hearing impairment, Protruding ear |
OMIM:608572 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Gastroparesi... |
ORPHA:85443 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Limb ataxia, Dysmetria, Distal sensory impairment, Pigmentary retinopathy, Dysdiadochokin... |
OMIM:617675 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Blue sclerae, Hearing impairment |
OMIM:166220 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Splenomegaly, Ataxia |
OMIM:617767 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Japanese Encephalitis |
|
Neutrophilia, Abnormal substantia nigra morphology, Abnormal midbrain morphology, Anorexia, Abdom... |
ORPHA:79139 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology, Irritability, Long eyelashes, Highly arched eyebrow |
ORPHA:411493 |
Athyreosis |
|
Abdominal distention, Constipation, Feeding difficulties |
ORPHA:95713 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Increased mean platelet volume, Feeding difficulties in infancy, A... |
OMIM:300048 |
Smith-Magenis Syndrome |
|
Retinal detachment, Impaired pain sensation, EEG abnormality, Conductive hearing impairment, Chro... |
ORPHA:819 |
Kbg Syndrome |
|
Cryptorchidism, Macrotia, Bilateral conductive hearing impairment, EEG abnormality |
ORPHA:2332 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Blue sclerae, Optic atrophy, Bilateral sensorineural hearing impairment |
OMIM:605282 |
Pyoderma Gangrenosum |
|
Skin ulcer, Atrophic scars, Inflammation of the large intestine, Skin vesicle, Myeloid leukemia, ... |
ORPHA:48104 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, Synotia, Narrow internal... |
ORPHA:990 |
Lennox-Gastaut Syndrome |
|
Falls, Hyperactivity, Abnormal brainstem morphology, Aggressive behavior |
ORPHA:2382 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropathy, Nausea, Decreased g... |
ORPHA:85450 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Johnson Neuroectodermal Syndrome |
|
Facial palsy, Protruding ear, Multiple cafe-au-lait spots, Microtia, Atresia of the external audi... |
ORPHA:2316 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Microtia |
OMIM:248390 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal |
OMIM:239800 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... |
ORPHA:206436 |
Alopecia Antibody Deficiency |
|
Conductive hearing impairment |
ORPHA:1006 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Micropenis, Ataxia, Nephronophthisis |
OMIM:614464 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Preauricular pit, Sacral dimple, Large for gestational age, Protuberant abdomen, Nephroblastoma, ... |
OMIM:618272 |
Xq28 (MECP2) duplication |
|
Feeding difficulties in infancy, Inability to walk, Functional abnormality of the bladder, Depres... |
DECIPHER:45 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Bilateral conductive hearing impairment, Atresia of the external auditory canal |
ORPHA:2010 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Feeding difficulties, Lateral ventricle dilatation, Dysgenesis of the cerebellar ver... |
OMIM:619479 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Blue sclerae, Eczema |
ORPHA:464288 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Macrotia, Blue sclerae, Cerebellar hypoplasia, Sensorineural hearing impairment |
ORPHA:391408 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Absent stapes, Microtia, Atresia of the external ... |
OMIM:301022 |
Osteopetrosis, Autosomal Dominant 1 |
|
Conductive hearing impairment |
OMIM:607634 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Conductive hearing impairment, Mixed hearing impairment, Sensorineural hearing impairment, Hearin... |
OMIM:118100 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Pigmentary r... |
ORPHA:79264 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cryptorchidism, Cereb... |
OMIM:611209 |
Kniest Dysplasia |
|
Conductive hearing impairment, Retinal detachment, Recurrent otitis media |
OMIM:156550 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Feeding difficulties in infancy, Erythema, Hepatitis, Skin ul... |
ORPHA:1334 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... |
OMIM:612290 |
Cap Polyposis |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Constipation |
ORPHA:160148 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment... |
OMIM:610651 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Imp... |
OMIM:609033 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Alopecia, Ataxia, Anorexia, Weight loss, Irritability, Organic aciduria, Thr... |
ORPHA:79242 |
Larsen-Like Syndrome |
|
Conductive hearing impairment, Recurrent otitis media, Low-set ears |
OMIM:608545 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
Isolated Cleft Lip |
|
Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology |
ORPHA:199302 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Brooke-Spiegler Syndrome |
|
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids |
ORPHA:79493 |
Primary Ciliary Dyskinesia |
|
Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Conductive hearing impairment, Rod-cone... |
ORPHA:244 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Pyoderma gangrenosum, Macular purpura, Hepatic failure, Thrombocytop... |
ORPHA:49566 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Abnormal flash visual evoked potentials, Chorea, Loss of Purkinje cells in th... |
ORPHA:98755 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Renal insufficiency, Chronic active hepatitis, Glomerulonephritis... |
ORPHA:289390 |
Braddock Syndrome |
|
Overfolded helix, Blue sclerae, Posteriorly rotated ears |
ORPHA:52047 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting |
OMIM:619445 |
Sacral Defect With Anterior Meningocele |
|
Neurogenic bladder, Dermoid cyst, Rectal abscess, Constipation, Urinary retention |
OMIM:600145 |
Werner Syndrome |
|
Sparse scalp hair, Renal neoplasm, Aplasia/Hypoplasia of the skin, Abnormal hair whorl, Lack of s... |
ORPHA:902 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Abdominal colic, Anorexia, Abdominal pain, Abdominal d... |
ORPHA:521219 |
Erythrokeratodermia Variabilis |
|
Macule, Alopecia, Hypermelanotic macule, Abnormal hair morphology, Erythema, Weight loss, Dry ski... |
ORPHA:317 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Intestinal bleeding, Skin ulcer, Abdominal pain |
ORPHA:424019 |
Usher Syndrome |
|
Abnormal vestibular function, Abnormality of retinal pigmentation, Ataxia, Sensorineural hearing ... |
ORPHA:886 |
Kapur-Toriello Syndrome |
|
Conductive hearing impairment, Cryptorchidism, Retinal coloboma, Low-set ears |
OMIM:244300 |
Brittle Cornea Syndrome |
|
Retinal detachment, Sensorineural hearing impairment, Abnormality of hair pigmentation, Blue scle... |
ORPHA:90354 |
Kaposi Sarcoma |
|
Macule, Hypermelanotic macule, Abnormality of the spleen, Skin nodule, Diarrhea, Weight loss, Abn... |
ORPHA:33276 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Wolfram Syndrome 1 |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy... |
OMIM:222300 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Dandy-Walker malformation, Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... |
ORPHA:91139 |
Crouzon Syndrome |
|
Keratitis, Optic atrophy, Conjunctivitis, Atresia of the external auditory canal, Conductive hear... |
OMIM:123500 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Ureteral stenosis, Rena... |
ORPHA:900 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas, Ataxia, Hearing impairment |
OMIM:560000 |
Papa Syndrome |
|
Crohn's disease, Skin ulcer, Proteinuria |
ORPHA:69126 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... |
ORPHA:53035 |
Joubert Syndrome 2 |
|
Renal insufficiency, Agenesis of cerebellar vermis, Ataxia, Brainstem dysplasia, Renal cyst, Hypo... |
OMIM:608091 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Abdominal pain, Portal hypertension, Hypersp... |
ORPHA:98850 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Blue sclerae, Hearing impairment |
OMIM:166200 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Ataxia, Dilatation of the renal pelvis, Gait ataxia |
OMIM:617120 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the kidney, Abnormality of the spleen, Peritonitis, S... |
ORPHA:228119 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Fusion of the left and ... |
OMIM:619306 |
Generalized Eruptive Histiocytosis |
|
Erythematous macule, Hypereosinophilia, Leukemia, Erythematous papule, Histiocytosis |
ORPHA:157991 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia |
OMIM:616576 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Chronic Granulomatous Disease |
|
Macule, Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Splenomeg... |
ORPHA:379 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Dysmetria, Gait ataxia, Depression, Weight loss, Gait disturbance |
ORPHA:157941 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Atte... |
ORPHA:467166 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Inflammatory abnormality of t... |
ORPHA:816 |
19P13.12 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the cerebellar vermis, External ear malformation, Cryptorchidism, Sensorine... |
ORPHA:254346 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Eczema, Optic atrophy, Absence of acoustic... |
ORPHA:79323 |
Immunoglobulin A Vasculitis |
|
Macule, Nausea and vomiting, Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Glome... |
ORPHA:761 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Acute hepatitis, Cutaneous sclerotic plaque, Nausea, Abdominal pai... |
ORPHA:39812 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Dystonia 30 |
|
Diffuse cerebral atrophy, Hypothalamic hamartoma |
OMIM:619291 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Congenital sensorineural hearing impairment, Retinal pigment ep... |
ORPHA:52427 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Weight loss, Irritability, Vomiting, Polydipsia |
ORPHA:30925 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Partial agenesis of the corpus callosum, Renal cyst, Chiari type I ... |
OMIM:270400 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
Refsum Disease |
|
Retinopathy, Abnormality of retinal pigmentation, Sensorineural hearing impairment, Ataxia |
ORPHA:773 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Pituitary corticotropic cell adenoma, Leukoc... |
ORPHA:96253 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked po... |
ORPHA:168491 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Abnormal optic disc morphology, Blue sclerae, Low-set ears, Severe sensorineural h... |
ORPHA:363417 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Anorexia, Portal hypert... |
ORPHA:824 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Constipation, Vomiting, Enterocolitis |
OMIM:142623 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Bowel incontinence, Abdominal distention, Depression, Progressive gait atax... |
ORPHA:309271 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Macrotia, Blue sclerae, Microtia, Hearing impairment |
OMIM:620250 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Temporal cortical atrophy, Athetosis, Blue sclerae, Frontal cortical atrophy,... |
ORPHA:621 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Retinal detachment, Recurrent skin infections, Dysesthesia, Cr... |
ORPHA:2953 |
Familial Multiple Nevi Flammei |
|
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule |
ORPHA:624 |
Brittle Cornea Syndrome 1 |
|
Red hair, Blue sclerae, Hearing impairment |
OMIM:229200 |
X-Linked Acrogigantism |
|
Increased body mass index, Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone ... |
ORPHA:300373 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Sensorineural hearing impairment, Undetec... |
ORPHA:423479 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment |
ORPHA:3238 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... |
OMIM:227810 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exudative vitreore... |
ORPHA:2788 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Abdominal distention, Gastroint... |
ORPHA:2131 |
Sialuria |
|
Hepatomegaly, Splenomegaly, Synophrys, Low posterior hairline, Hypoplastic nipples, Protuberant a... |
OMIM:269921 |
Necrotizing Enterocolitis |
|
Small for gestational age, Abdominal distention, Diarrhea, Leukocytosis, Peritonitis, Bloody diar... |
ORPHA:391673 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Abnormal hair morphology, Skin ulcer, Skin vesicle, Dystrophic fingernails, Papule |
ORPHA:2314 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... |
ORPHA:485421 |
Cln3 Disease |
|
Cerebellar atrophy, Ataxia, Bull's eye maculopathy, Acne, Optic atrophy, Pigmentary retinopathy, ... |
ORPHA:228346 |
Cln5 Disease |
|
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the central nervous system, Corpus cal... |
ORPHA:228360 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction |
OMIM:193250 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Systemic Sclerosis |
|
Alopecia, Renal insufficiency, Gastroparesis, Proteinuria, Cutaneous sclerotic plaque, Bowel inco... |
ORPHA:90291 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Episodic abdomi... |
ORPHA:100086 |
Dermatoosteolysis, Kirghizian Type |
|
Dystrophic toenail, Aplasia/Hypoplasia of the skin, Dystrophic fingernails, Skin ulcer |
ORPHA:1657 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Pallor, Papule, Neutrophilia, Ab... |
ORPHA:3260 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Protruding e... |
ORPHA:1131 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Impaired vibratory sensation, Abnormal cerebellum morphology, Pigmentary retinopathy, Retinal fle... |
ORPHA:100996 |
Generalized Arterial Calcification Of Infancy |
|
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Choroidal n... |
ORPHA:51608 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Increase... |
ORPHA:71 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Microtia, Retinal coloboma, Hypothalamic hamartoma, Cleft earlobe, ... |
OMIM:619775 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Alopecia, Abdominal pain, Erythema, Skin ulcer, Weight loss, Constip... |
ORPHA:93672 |
Phaver Syndrome |
|
Posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Low-set ears, Conductive hearing im... |
ORPHA:2876 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Poor appetite, Megaloblastic anemi... |
ORPHA:35858 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Ataxia, Highly arched eyebrow |
OMIM:617121 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice... |
ORPHA:79477 |
Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Ataxia |
ORPHA:3156 |
Waardenburg Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Abnormality of skin ... |
ORPHA:3440 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Osteomyelitis, Ataxia, Axonal degeneration, Impaired vib... |
ORPHA:88628 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Abdominal pain, Abdominal diste... |
ORPHA:160 |
Oculocerebrorenal Syndrome Of Lowe |
|
Feeding difficulties in infancy, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesoph... |
ORPHA:534 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears, Pineal cyst |
OMIM:618885 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt... |
OMIM:268315 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Abdominal distention, Progressive gait ataxia, Cholecystitis, Emotional lab... |
ORPHA:309263 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Ataxia, Elongated superior cerebellar peduncle, Abnormal brainstem morp... |
ORPHA:370022 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Urinary incontinence, Acral ulceration |
OMIM:613115 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Chiari type ... |
ORPHA:166035 |
Radio-Tartaglia Syndrome |
|
Ataxia, Large earlobe, Low-set ears, Conductive hearing impairment, Hearing impairment |
OMIM:619312 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Subcutaneous nodule, Oliguria, Weight loss, Lym... |
ORPHA:514 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Carpenter Syndrome 1 |
|
Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Cereb... |
OMIM:201000 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Iris hypopigmentation, White hair, Ocular albinism, Aplasia/Hypoplasia of the cerebellum,... |
ORPHA:2720 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Feeding difficulties, Gait disturban... |
ORPHA:220493 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Elevated urinary catecholamine level, Abdominal pain, Skin nodule, Diarrhea, Elevated uri... |
OMIM:256700 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... |
ORPHA:101330 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Pneumonia, Optic atrophy, Abnormality of skin pigmentation, Microt... |
ORPHA:2135 |
Leptin Receptor Deficiency |
|
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... |
OMIM:614963 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling, Low-set ears |
OMIM:617102 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis,... |
ORPHA:906 |
Fibrodysplasia Ossificans Progressiva |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:135100 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Pancytopenia, Alopecia, Anorexia, Abdominal pain, Phimosis, Urinar... |
ORPHA:99921 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Sparse eyebrow, Fine hair, Hypoplasia of th... |
ORPHA:444072 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:617877 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Agnathia-Otocephaly Complex |
|
Conductive hearing impairment, Low-set ears, Synotia |
OMIM:202650 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... |
OMIM:300635 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Ataxia |
OMIM:616881 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Dysmetria, Dysdiadochokinesis, Abnormality of visual... |
ORPHA:96 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Hypermelanotic macule, Cryptorchidism, Optic atrophy... |
ORPHA:90321 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Poor appetite, Anorexia, Splenomegaly, Weight loss |
ORPHA:391 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Retinal atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked ... |
OMIM:216400 |
Osteogenesis Imperfecta, Type Xvi |
|
Conductive hearing impairment, Blue sclerae, Hearing impairment |
OMIM:616229 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Anorexia, Abdominal pain, Cachexia, Splenomegaly, Diarrhea, Aplasia/Hypop... |
ORPHA:2930 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Difficulty walking |
OMIM:619345 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ... |
ORPHA:370959 |
Liver Disease, Severe Congenital |
|
Dry hair, Biliary hyperplasia, Leukopenia, Aminoaciduria, Vomiting, Lymphocytosis, Elevated hepat... |
OMIM:619991 |
Trichorhinophalangeal Syndrome Type 2 |
|
Conductive hearing impairment, Low-set, posteriorly rotated ears, Protruding ear |
ORPHA:502 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasi... |
OMIM:235255 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Cranial nerve compression, Paroxysmal vertigo, Cond... |
ORPHA:276621 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Conductive hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Low-set, posteri... |
ORPHA:1307 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute l... |
ORPHA:3226 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Decreased nerve conduction velocity, Chorioretinal lacunae, Sensorineur... |
OMIM:618733 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25... |
OMIM:619802 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Mixed hearing impairment, Cupped ear, Blue sclerae, Conjunctivitis, Low-set ears |
OMIM:615560 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Failure to thrive, Hypospadias, Splenomegaly, Synophrys, Low anterior hairline, Ski... |
ORPHA:955 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Abnormality... |
ORPHA:585 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ... |
ORPHA:2878 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Conductive hearing impairment, Cryptorchidism, Atresia of the external auditory canal, Simple ear |
OMIM:602471 |
Cystic Echinococcosis |
|
Abdominal symptom, Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, A... |
ORPHA:400 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Conductive hearing impairment, Sensorineural hearing impairment, Chiari type I m... |
ORPHA:261197 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Cerebral cortical atrophy,... |
ORPHA:2570 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Immunodeficiency 23 |
|
Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Ataxia, Eczema, Allergic r... |
OMIM:615816 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Feeding difficulties in infancy, Weight loss, Irritability, Vesicoureteral reflux, Loss o... |
ORPHA:3208 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Broad-based gait, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomega... |
ORPHA:2072 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Abdominal pain, Thrombocytopenia, Leukocytosis, Weight loss, Anemia, Leuk... |
ORPHA:520 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Somatic sensory dysfunction, Optic d... |
ORPHA:909 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasi... |
ORPHA:1655 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Weight loss |
ORPHA:103910 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous... |
ORPHA:542643 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Ataxia |
OMIM:266130 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Unsteady gait, Midline brainstem cleft, Fusion of the left and right thal... |
OMIM:617542 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mixed hearing impairment, Optic atrophy, Facial palsy |
OMIM:218400 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Pigmentary retinopathy, Hearing impairment |
ORPHA:110 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... |
OMIM:619365 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Erythema, Skin ulcer, Skin fissure, Sparse hair |
ORPHA:659 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Cerebellar atrophy, Somatic sensory dysfunction, Abnormality of ret... |
ORPHA:466768 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Weight loss, Difficulty walking, Impaired oropharyngeal swallow respon... |
ORPHA:98897 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Vomi... |
OMIM:143880 |
De Barsy Syndrome |
|
Cerebellar vermis hypoplasia, Cryptorchidism, Athetosis, Progressive cerebellar ataxia, Blue scle... |
ORPHA:2962 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular car... |
OMIM:232220 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Conductive hearing impairm... |
OMIM:244400 |
Huntington Disease-Like 2 |
|
Irritability, Weight loss, Depression |
OMIM:606438 |
Pontocerebellar Hypoplasia, Type 1F |
|
Hypoplasia of the pons, Blue sclerae, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:619304 |
Dentinogenesis Imperfecta |
|
Blue sclerae, Hearing impairment |
ORPHA:49042 |
Infantile Systemic Hyalinosis |
|
Chronic diarrhea, Subcutaneous nodule, Skin ulcer, Feeding difficulties, Failure to thrive |
ORPHA:2176 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Osteoarthritis, Blue sclerae, Lop ear, Recurrent sinusitis |
OMIM:130000 |
Incontinentia Pigmenti |
|
Alopecia, Eosinophilia, Supernumerary nipple, Abnormal hair morphology, Erythema, Hypopigmented s... |
ORPHA:464 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysp... |
ORPHA:95455 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Urethral stricture, Renal dysplasia, Abdominal distention, Urinary bladder i... |
ORPHA:79403 |
Leigh Syndrome |
|
Gastrointestinal dysmotility, Choreoathetosis, Complex organic aciduria, Neutropenia, Frontal hir... |
ORPHA:506 |
Cleft Lip/Palate |
|
Conductive hearing impairment, Recurrent otitis media |
ORPHA:199306 |
Mucopolysaccharidosis Type 2 |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decre... |
ORPHA:580 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Anotia, Atresia of the ex... |
OMIM:608257 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, I... |
OMIM:215600 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Sensorineural hearing impairment, Impaired proprioception, ... |
ORPHA:96180 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Ataxia, Urinary incontinence, Cachexia, Inability to walk, Abnorma... |
ORPHA:300605 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy, Ataxia, Truncal ataxia |
OMIM:252011 |
Cleft Palate, Deafness, And Oligodontia |
|
Bilateral conductive hearing impairment |
OMIM:216300 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Cryptorchidism, Aplas... |
ORPHA:138 |
Lysinuric Protein Intolerance |
|
Leukopenia, Aminoaciduria, Vomiting, Sparse hair, Nausea, Hepatomegaly, Anemia, Malnutrition, Sta... |
OMIM:222700 |
Joubert Syndrome 5 |
|
Agenesis of cerebellar vermis, Ataxia, Aggressive behavior, Aplasia/Hypoplasia of the cerebellar ... |
OMIM:610188 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ataxia, Blue sclerae, Bilateral conductive hearing impairment, Rod-cone dystrophy, Hearing impair... |
ORPHA:488642 |
Monosomy 18Q |
|
Abnormal retinal morphology, Bilateral cryptorchidism, Sensorineural hearing impairment, Choreoat... |
ORPHA:1600 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:607131 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Impaired vibratory sensation, Retinal detachment, Abnormal pinna morphology, Recurrent pneumonia,... |
ORPHA:1900 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormality of the kidney, Skin ulcer, Gastrointestinal infarctions, Coombs-positive hemolytic an... |
ORPHA:464343 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Ataxia, Anorexia, Diarrhea, Leukocytosis, Weight loss, Vomiting, Pallor,... |
ORPHA:134 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Skin nodule, Leukocytosis, Pyoderma gangrenosum, Chronic ly... |
ORPHA:3243 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Progressive Nodular Histiocytosis |
|
Cachexia, Subcutaneous nodule, Papule |
ORPHA:158022 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Renal agenesis, Highly arched eyebrow, Renal hypoplasia/apl... |
ORPHA:2754 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Abnormal midbrain morphology, Decreased response to growth hormone... |
ORPHA:293987 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebellar vermis hypoplasia, Facial palsy, Cryptorchidism, Pigmentary retinopathy, Cerebellar hy... |
OMIM:613156 |
Meckel Syndrome, Type 4 |
|
Agenesis of cerebellar vermis, Renal cyst, Bile duct proliferation, Molar tooth sign on MRI, Dand... |
OMIM:611134 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Bilateral cryptorchidism, Sensorineural hearing impairment, Cupped ear,... |
OMIM:300472 |
Osteogenesis Imperfecta, Type Xiii |
|
Blue sclerae, Hearing impairment, Protruding ear |
OMIM:614856 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Bowel incontinence, Diffuse cerebellar atrophy, Abnormal brainstem morphology, Dysmetria,... |
ORPHA:93256 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Microtia, Atresia of the external auditory canal, Low-set ears, Conductive hearing impairment, Ov... |
OMIM:610536 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conjunctivitis, Atresia of the external auditory canal, Conductive hearing impairment, Blephariti... |
OMIM:106260 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Glomerulopathy, Intestinal obstruction, Renal insufficiency, Proteinuria, Eo... |
ORPHA:183 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Recurrent pneumonia, Neurodegeneration, Recurre... |
OMIM:309900 |
Attrv30M Amyloidosis |
|
Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Mepan Syndrome |
|
Cerebellar atrophy, Ataxia, Chorea, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked... |
ORPHA:508093 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Thickened helices, Blue sclerae, Darwin tubercle of helix |
OMIM:619122 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Conductive hearing impairment, Pulsatile tinnitus |
OMIM:168000 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Melanocytic nevus, Fine hair, Thin skin, ... |
ORPHA:978 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss |
ORPHA:42642 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Fusion of the cerebellar hemispheres, Septo-optic dysplasia, A... |
ORPHA:59315 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Anorexia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Increased body weight, Ecchymo... |
ORPHA:99889 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Cryptorchidism, Sensorineur... |
ORPHA:648 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormal preputium morphology, Abnormality of the urethra, Erythema, Hypopigmented skin patches, ... |
ORPHA:2907 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Chro... |
ORPHA:469 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Cerebellar calcifications... |
OMIM:133540 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Stevens-Johnson Syndrome |
|
Macule, Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Elevated hepatic... |
ORPHA:36426 |
Joubert Syndrome With Oculorenal Defect |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Molar tooth sig... |
ORPHA:2318 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Congenital sensorineural hearing impairment, Mixed hearing impairment |
ORPHA:2698 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Chronic active hepatitis, Decreased response to growth hormone stimulati... |
OMIM:203800 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Hepatomegaly, Redundant neck skin, Diarrhea, Weight loss, Failure to thrive,... |
ORPHA:1842 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Achondrogenesis Type 1A |
|
Abdominal distention |
ORPHA:93299 |
Qazi-Markouizos Syndrome |
|
Chronic constipation, Abdominal distention |
ORPHA:3010 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Decreased response to growth hormone stimulation test, Pineal cyst, Microtia, Recur... |
ORPHA:529962 |
Majeed Syndrome |
|
Hepatomegaly, Failure to thrive, Glomerulopathy, Proteinuria, Cachexia, Congenital hypoplastic an... |
ORPHA:77297 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Weig... |
ORPHA:26790 |
Branchio-Oculo-Facial Syndrome |
|
Conductive hearing impairment, Premature graying of hair, Abnormal pinna morphology, Low-set, pos... |
ORPHA:1297 |
Osteogenesis Imperfecta, Type Iii |
|
Blue sclerae, Hearing impairment |
OMIM:259420 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid... |
ORPHA:54251 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Weight loss, Trunc... |
OMIM:137440 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Ataxia |
OMIM:530000 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches, EEG abnormality, Blue sclerae, Paresth... |
ORPHA:2875 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Erdheim-Chester Disease |
|
Nausea and vomiting, Renal insufficiency, Ataxia, Dysuria, Abdominal pain, Retroperitoneal fibros... |
ORPHA:35687 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Ataxia, Cerebellar gliosis, Optic atrophy, Abnormal autonomic nervous system ... |
ORPHA:35069 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Anorexia, Rey... |
ORPHA:20 |
Kabuki Syndrome 2 |
|
Cupped ear, Protruding ear, Blue sclerae, Low-set ears, Recurrent otitis media, Macrotia, Hearing... |
OMIM:300867 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Ataxia, Impaired distal proprioception, Hypoesthesia, Sensorineural... |
OMIM:607459 |
Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Proteinuria, Abdominal pain, Microvesicular hepatic steatosis,... |
OMIM:619377 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Xanthelasma, Focal seg... |
OMIM:232200 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Dysphagia |
ORPHA:50251 |
Down Syndrome |
|
Conductive hearing impairment, Round ear, Aganglionic megacolon, Impaired pain sensation |
ORPHA:870 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Posteriorly rotated ears, Prominent ear helix, Cryptorchidism, Athetosis, Blue sclerae |
OMIM:614438 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Abnormal vestibular function, Impaired distal proprioception, Abnor... |
ORPHA:70595 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Ataxia |
OMIM:614307 |
Charcot-Marie-Tooth Disease, Axonal, Type 2V |
|
Impaired vibratory sensation, Paresthesia, Sensory ataxia, Distal sensory impairment |
OMIM:616491 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Mixed hearing impairment, Sensorineural hearing impairment |
OMIM:604804 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... |
ORPHA:100082 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Mixed hearing impairment, Recurrent pneumonia, Ataxia |
OMIM:620012 |
Achondrogenesis, Type Ib |
|
Abdominal distention |
OMIM:600972 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Anemia, Ch... |
ORPHA:540 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment, Optic atrophy, Protruding ... |
ORPHA:192 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Paroxysmal vertigo, Cranial nerve compression, Cond... |
ORPHA:29072 |
Calciphylaxis |
|
Stage 5 chronic kidney disease, Skin ulcer |
ORPHA:280062 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Weight loss |
ORPHA:545 |
47,Xyy Syndrome |
|
Hyperactivity, Hypospadias, Impulsivity, Increased circulating gonadotropin level, Abnormal brain... |
ORPHA:8 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... |
ORPHA:529799 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Microtia, Condu... |
OMIM:603467 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Glucagonoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Necrolytic migratory erythema, Acant... |
ORPHA:97280 |
Brittle Cornea Syndrome 2 |
|
Blue sclerae, Hearing impairment |
OMIM:614170 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Oculodentodigital Dysplasia |
|
Ataxia, Aplasia/Hypoplasia of the cerebellum, External ear malformation, Abnormality of the ear, ... |
ORPHA:2710 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Blue sclerae, Low-set ears, Cafe-au-lait spot,... |
ORPHA:813 |
Sotos Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Low-set ears, Otitis media, Conductive hearing impairme... |
OMIM:117550 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Conductive hearing impairment, Posteriorly rotated ears, Facial palsy, Low-set ears |
ORPHA:2780 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Leukodystrophy, Hypomyelinating, 25 |
|
Blue sclerae, Gait ataxia |
OMIM:620243 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Senso... |
ORPHA:217085 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Small for gestational age, Gait disturbance, Protuberant abdomen |
OMIM:613330 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Abdominal pa... |
ORPHA:98849 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hydrocele t... |
ORPHA:79330 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Blue sclerae, Protruding ear |
OMIM:612940 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Sensorineural hearing impairment, Blue sclerae, Cerebral cortical a... |
ORPHA:488627 |
Listeriosis |
|
Brain abscess, Liver abscess, Ataxia, Abscess, Abdominal pain, Abnormal brainstem MRI signal inte... |
ORPHA:533 |
Wiedemann-Steiner Syndrome |
|
Recurrent otitis media, Cryptorchidism, Blue sclerae, Low-set ears |
OMIM:605130 |
Ovarian Fibroma |
|
Abdominal distention, Mesenteric cyst, Peritonitis, Abdominal pain |
ORPHA:314473 |
Multiple Osteochondromas |
|
Intestinal obstruction, Urinary retention, Dysphagia |
ORPHA:321 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Abnormal helix m... |
OMIM:214110 |
Cerebrofacioarticular Syndrome |
|
Conductive hearing impairment, Microtia, Ataxia, Cerebellar vermis hypoplasia |
ORPHA:314679 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Diamond-Blackfan Anemia 10 |
|
Posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Low-set ears, Conduct... |
OMIM:613309 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Senso... |
ORPHA:217093 |
Ppoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97278 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Skin ulcer, Weight loss |
OMIM:608710 |
Warburg Micro Syndrome 2 |
|
Asymmetry of the ears, Cryptorchidism, Optic atrophy, Undetectable visual evoked potentials, Macr... |
OMIM:614225 |
Hirschsprung Disease |
|
Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, Abdominal pain, Diarrh... |
ORPHA:388 |
Pycnodysostosis |
|
Mild conductive hearing impairment, Blue sclerae, Decreased response to growth hormone stimulatio... |
ORPHA:763 |
Familial Colorectal Cancer Type X |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the panc... |
ORPHA:440437 |
Joubert Syndrome 8 |
|
Hepatomegaly, Ataxia, Obesity, Prolonged neonatal jaundice, Molar tooth sign on MRI |
OMIM:612291 |
Lowry-Maclean Syndrome |
|
Bilateral cryptorchidism, Blue sclerae, Low-set ears |
ORPHA:2409 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Broad-based gait, Abnormal macrophage morphology, Tip-toe gait |
ORPHA:353 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Abdominal distention, Leukocytosis, Chronic diarrhea, Cholestasis, Gastroesophageal... |
OMIM:620233 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Hypertrichosis, Anemia, ... |
ORPHA:2330 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Osteogenesis Imperfecta, Type Xx |
|
Crumpled ear, Blue sclerae, Posteriorly rotated ears, Low-set ears |
OMIM:618644 |
Plague |
|
Hepatomegaly, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Localized skin lesion, Diarrhe... |
ORPHA:707 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Hepatomegaly, Aplasia/Hypoplasia of the skin, Abdominal pain, Splenomegaly, ... |
ORPHA:33577 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, He... |
OMIM:308240 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Abnormal Eustachian tube morphology, Gait ataxia, Pineal cyst, Cerebellar hypoplasia, Recurrent o... |
ORPHA:513456 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Irritability, Difficulty walking, Protuberant abdomen, Failure to thrive |
OMIM:264700 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Cerebral atrophy |
ORPHA:397951 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia |
OMIM:171480 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Sensorineural hearing impai... |
ORPHA:300570 |
Osteogenesis Imperfecta, Type Xi |
|
Blue sclerae, Hearing impairment |
OMIM:610968 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Conductive hearing im... |
OMIM:616331 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Blue sclerae, Cerebral atrophy |
OMIM:617051 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Abdominal pain, Hepatic cysts, Eosinophi... |
ORPHA:284 |
Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears, Con... |
OMIM:605627 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Urinary incontinence, Constipation, Acral ulceration |
OMIM:608654 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Functional intesti... |
ORPHA:1333 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI |
OMIM:619582 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia, Atopic derma... |
ORPHA:3240 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... |
ORPHA:100080 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Abnormal liver parenchyma morphology, Dysphagia |
ORPHA:1332 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Cholestasis, Leukopeni... |
ORPHA:292 |
Lynch Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the panc... |
ORPHA:144 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Truncal ataxia |
OMIM:220110 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Ataxia, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, D... |
ORPHA:456312 |
8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Blue sclerae, Cerebellar hypoplasia, Macrotia, Dandy-Walker malformation |
ORPHA:96092 |
Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Feeding d... |
ORPHA:221 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy, Ataxia, Bilateral sensorineural hearing impairment |
ORPHA:436271 |
Ovarian Fibrothecoma |
|
Abdominal distention, Peritonitis, Hirsutism, Abdominal pain |
ORPHA:314478 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Skin ulcer, Fine hair |
ORPHA:1806 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility,... |
ORPHA:330001 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, S... |
OMIM:606164 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Subcutaneous nodule, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia |
ORPHA:1876 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Optic atrophy, Limb ataxia, Gait a... |
OMIM:229300 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, 4-hydroxyphenylacetic aciduria, Abdominal diste... |
OMIM:617156 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Sensorineural heari... |
ORPHA:193 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Chromosome 9P Deletion Syndrome |
|
Posteriorly rotated ears, Prominent antihelix, Blue sclerae, Low-set ears, Fair hair |
OMIM:158170 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Mastocytosis, Weight loss |
ORPHA:66661 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Abdominal pain, Diarrhea, Leukocytosis, Weight loss, Hematochezia, Vomiting, Dyspha... |
ORPHA:2070 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Elevate... |
ORPHA:131 |
Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Difficulty walking, Protuberant abdomen, Failure to thrive, Alopecia universalis |
OMIM:277440 |
Grubben-De Cock-Borghgraef Syndrome |
|
Blue sclerae, Eczema |
ORPHA:2101 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Akinesia, Spastic/hyperactive bladder, Depression, Weight loss, Chronic constipation... |
ORPHA:411602 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Abdominal distention, Secretory diarrhea, Cutis laxa, Renal duplication |
OMIM:270420 |
Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment |
ORPHA:2095 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Tubulointerstitial fibr... |
ORPHA:79259 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Brushfield spots, Cryptorchidism, Sensorineural hearing impairment, Optic ner... |
OMIM:614866 |
Gonadoblastoma |
|
Abdominal distention, Hirsutism, Abdominal pain |
ORPHA:206484 |
2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Eczema |
ORPHA:1001 |
White-Sutton Syndrome |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Sensorineural hearing impairment, Cerebral atro... |
OMIM:616364 |
Somatostatinoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97283 |
Treacher Collins Syndrome 2 |
|
Anotia, Conductive hearing impairment, Fusion of middle ear ossicles, Microtia |
OMIM:613717 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Cerebral atrophy, Melanocytic n... |
OMIM:602535 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Renal agenesis, Hypothalamic hamartoma, Molar tooth sign on MRI, Fa... |
OMIM:277170 |
Warburg-Cinotti Syndrome |
|
Posteriorly rotated ears, Retinal dystrophy, Atresia of the external auditory canal, Low-set ears... |
OMIM:618175 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abdominal pain, Adrenocorticotropic hormone deficiency, Increas... |
ORPHA:1501 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:1173 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Depression, Feeding difficulties, Chiari ty... |
ORPHA:221098 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Prot... |
ORPHA:50 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly... |
OMIM:603553 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:470 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, External ear malfo... |
ORPHA:233 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Protuberant a... |
OMIM:608022 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Pigmentary retinopathy, Low-set... |
OMIM:614230 |
Saul-Wilson Syndrome |
|
Sensorineural hearing impairment, Blue sclerae, Hearing impairment |
OMIM:618150 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Macule, Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, ... |
ORPHA:139402 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Bowel urgency, Poor appetite, A... |
ORPHA:100075 |
Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Failure to thrive, Eosinophilia, Anore... |
ORPHA:199299 |
Primary Biliary Cholangitis |
|
Portal hypertension, Abdominal distention, Jaundice, Biliary cirrhosis, Hepatitis, Gastrointestin... |
ORPHA:186 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia, Feeding difficulties |
ORPHA:157973 |
Meige Disease |
|
Atypical scarring of skin, Skin erosion, Skin dimple, Skin ulcer |
ORPHA:90186 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Conductive hearing impairment, Cryptorchidism, Posteriorly rotated ears |
ORPHA:2215 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mixed hearing impairment, Facial palsy |
OMIM:123000 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Facial palsy, Vertigo, Abnorm... |
ORPHA:297 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Anemia, Leukopenia, Irritability, Hemophagocytosis,... |
OMIM:267700 |
Van Maldergem Syndrome 2 |
|
Cryptorchidism, Sensorineural hearing impairment, Microtia, Atresia of the external auditory cana... |
OMIM:615546 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Renal neoplasm, Alopecia, Aplasia/Hypoplasia of the skin, Failure to thri... |
ORPHA:79474 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Liposarcoma |
|
Nausea and vomiting, Abnormality of the kidney, Abdominal pain, Subcutaneous nodule, Weight loss |
ORPHA:69078 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Bowel incontinence, Detrusor sphincter dys... |
ORPHA:573278 |
Vipoma |
|
Nausea and vomiting, Hepatomegaly, Neoplasm of the pancreas, Poor appetite, Anorexia, Elevated ci... |
ORPHA:97282 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Ataxia, Chorea, Abnormal thalamic MRI signal intensity, Limb... |
ORPHA:48818 |
Leprosy |
|
Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Abnormality of the spleen, Ski... |
ORPHA:548 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Fine hair... |
ORPHA:2221 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Abnormal pinna morphology, Posteriorly rotated ears, Cryptorchidism, Chiari type I malformation, ... |
OMIM:182212 |
Hallermann-Streiff Syndrome |
|
Cryptorchidism, Optic disc coloboma, Recurrent pneumonia, Choreoathetosis, Blue sclerae, Low-set ... |
OMIM:234100 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Hypospadias, Supernumerary nipple, Cachexia, Feeding difficulties, Fine hair, ... |
ORPHA:217346 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Blue scle... |
ORPHA:2785 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Leukocyte Adhesion Deficiency Type Ii |
|
Ataxia, Severe periodontitis, Keratitis, Recurrent pneumonia, Cerebral atrophy, Microtia, Recurre... |
ORPHA:99843 |
Familial Visceral Myopathy |
|
Hydroureter, Abdominal distention, Megacystis, Abdominal situs inversus, Vesicoureteral reflux |
ORPHA:2604 |
Gm1 Gangliosidosis |
|
Ataxia, Splenomegaly, Unsteady gait, Hepatosplenomegaly, Feeding difficulties, Weight loss, Gastr... |
ORPHA:354 |
Eosinophilic Fasciitis |
|
Macule, Abnormal eosinophil morphology, Eosinophilia, Subcutaneous nodule, Weight loss |
ORPHA:3165 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Abdominal pain, Weight loss, Constipation, G... |
ORPHA:732 |
Otopalatodigital Syndrome, Type I |
|
Conductive hearing impairment |
OMIM:311300 |
Acrokeratoelastoidosis Of Costa |
|
Yellow papule, Piezogenic pedal papules, Hyperkeratotic papule, Granulomatosis, Skin plaque |
ORPHA:38 |
Riboflavin Transporter Deficiency |
|
Cachexia, Ataxia, Aggressive behavior, Dysphagia |
ORPHA:97229 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Chime Syndrome |
|
Abnormality of the kidney, Erythema, Skin ulcer, Fine hair, Acute leukemia, Sparse hair, Hydronep... |
ORPHA:3474 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ataxia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Choreoath... |
OMIM:610978 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... |
ORPHA:251937 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Abdominal pain, Leukocytosis, Diarrhea, Oliguria, Weight loss, Pancreatitis,... |
ORPHA:188 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Feeding difficulties, Gastroesophageal reflux, Prot... |
OMIM:230900 |
Brucellosis |
|
Liver abscess, Anorexia, Leukopenia, Abnormality of the liver, Vomiting, Nausea, Hepatomegaly, Ab... |
ORPHA:1304 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Cryptorchidism, Cupped ear, Low-set ears |
OMIM:263750 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Bone-marrow foam cells, Splenomegaly, Gait ... |
OMIM:257220 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Posteriorly rotated ears, Brushfield spots, Cryptorchidism, Sensorineural hear... |
OMIM:214100 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno... |
OMIM:616875 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Normocytic anemia, Renal insufficiency, Dysuria, Anorexia, Abdominal pain, R... |
ORPHA:49041 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Van Maldergem Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Atresia of the externa... |
OMIM:601390 |
Grfoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... |
ORPHA:97261 |
Shprintzen-Goldberg Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Protruding ear, Chiari malformation, Low-set ears, Cond... |
ORPHA:2462 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation, Ataxia, EEG abnormality |
ORPHA:578 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Attention deficit hyperactivity d... |
ORPHA:216866 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Hepatomegaly, Abnormal brainstem morphology |
ORPHA:79279 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance, Sea-blue histiocytosis, Dysphagia, Failure ... |
OMIM:230600 |
Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Ataxia, Chorioretinal atrophy |
OMIM:245800 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Cryptorchidism, Hearing abnormality, Low-set ears, Conductive hearing impairment, Hearing impairment |
ORPHA:2990 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain |
OMIM:277320 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Acral ulceration, Nail dystrophy, Emotional lability, Self-muti... |
OMIM:256800 |
Cerebellofaciodental Syndrome |
|
Aggressive behavior, Sparse eyebrow, Hypoplasia of the pons, Fine hair, Cerebellar hypoplasia, Pr... |
OMIM:616202 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Abnormal dentate nucleus morphology |
OMIM:619517 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Redundant skin, Cachexia, Ileus, Athetosis, Constipation, Self-mutilation |
ORPHA:52503 |
Laron Syndrome |
|
Blue sclerae |
OMIM:262500 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Aganglionic megacolon, Sensorineural hearing impairment, Optic disc colobo... |
ORPHA:959 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Microtia, Conductive hearing impairment, Abnormality of the middle ear, Narrow in... |
ORPHA:861 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Weight loss, Vomiting, Pancreatic calci... |
ORPHA:677 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Aganglionic megacolon, EE... |
ORPHA:175 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, Subcutaneous no... |
ORPHA:47612 |
Meier-Gorlin Syndrome 6 |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Cryptorchidism, ... |
OMIM:616835 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Ataxia, Abnorm... |
OMIM:214500 |
Distal Deletion 19P |
|
Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly rotated ears |
ORPHA:96129 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Abnormal incisura morphology, Cryptorchidism, Sensorineural hearing impairment, Optic ... |
OMIM:122470 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Frontorhiny |
|
Low-set, posteriorly rotated ears, Hypopituitarism, Congenital conductive hearing impairment |
ORPHA:391474 |
Perry Syndrome |
|
Akinesia, Depression, Weight loss, Inappropriate behavior, Disinhibition, Short stepped shuffling... |
OMIM:168605 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to growth hormone s... |
OMIM:619476 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology |
ORPHA:2290 |
Meckel Syndrome 14 |
|
Abdominal distention, Hepatic fibrosis, Polycystic kidney dysplasia, Protuberant abdomen |
OMIM:619879 |
Kikuchi-Fujimoto Disease |
|
Macule, Erythematous macule, Hepatomegaly, Elevated hepatic transaminase, Alopecia, Ataxia, Anore... |
ORPHA:50918 |
Kabuki Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Blue sclerae, ... |
ORPHA:2322 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Thickened helices, Mixed hearing impairment, Overfolded helix, Low-set ears |
OMIM:608624 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Sensorineural hearing impairment, Low-set ears, Conductive hearing impairment, Er... |
OMIM:235510 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Brain atrophy |
OMIM:619059 |
New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Cerebellar edema, Abnormal thalamic MRI signal intensity, EEG with ge... |
ORPHA:363558 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain |
ORPHA:180229 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Hemolytic anemia, Hepatomegaly, Pancytopenia, Hematemesis, Thrombocytopenia, ... |
OMIM:615846 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Irritability, Difficulty walking, Protuberant abdomen, Failure to thrive |
ORPHA:289157 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Blue sclerae, Low-set ears |
OMIM:225410 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pai... |
ORPHA:67 |
Larsen Syndrome |
|
Conductive hearing impairment, Cryptorchidism |
ORPHA:503 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Normocytic anemia, Renal insufficiency, Salt craving, Failure to thrive, Ano... |
ORPHA:95409 |
Familial Keratoacanthoma |
|
Papule, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Chronic diarrhea, Rectal abscess, Skin ulcer |
OMIM:116920 |
Nephrogenic Diabetes Insipidus |
|
Nausea and vomiting, Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bl... |
ORPHA:223 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Gastroesophageal reflux, Hepatic fibrosis, In... |
OMIM:619534 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Cerebral atrophy, Gait ataxia, Hydrocele testis, Retinal coloboma, Chorioretina... |
OMIM:280000 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Conductive hearing impairment, Mixed hearing impairment, Blue sclerae, High-frequency sensorineur... |
OMIM:614557 |
Deafness, Autosomal Recessive 88 |
|
Mixed hearing impairment |
OMIM:615429 |
Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... |
ORPHA:2306 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Abdominal... |
ORPHA:398063 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp... |
ORPHA:158061 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
3P25.3 Microdeletion Syndrome |
|
Abnormality of the outer ear, Sensorineural hearing impairment, Abnormal thalamus morphology, Ataxia |
ORPHA:435638 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Nephroblastoma |
|
Abdominal pain, Weight loss, Hematuria, Neoplasm of the liver, Nephroblastoma |
ORPHA:654 |
Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Overweight, Cerebellar vermis hypoplasia, Polycystic kidney dysplasia |
OMIM:619562 |
Currarino Syndrome |
|
Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Perianal abscess, G... |
OMIM:176450 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary... |
ORPHA:79282 |
Achondroplasia |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:100800 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Increased circulating gonadotropin lev... |
ORPHA:64739 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Abdominal distention, Low anterior hairline, Renal hyp... |
OMIM:617666 |
Microsporidiosis |
|
Brain abscess, Cholangitis, Anorexia, Abdominal pain, Cachexia, Abnormality of the spleen, Skin n... |
ORPHA:2552 |
Frontometaphyseal Dysplasia 2 |
|
Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impairment, Ulcerative colitis, ... |
OMIM:617137 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Gastrointestinal dysmotil... |
OMIM:603041 |
Paget Disease Of Bone 2, Early-Onset |
|
Bilateral conductive hearing impairment |
OMIM:602080 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Mixed hearing impairment |
OMIM:126550 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Abnormal renal morphology, Ataxia |
OMIM:614615 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Large earlobe, Blue sclerae, Hypoplasia of the ear cartilage |
ORPHA:1236 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Bardet-Biedl Syndrome 1 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Ataxia, Retinal dy... |
OMIM:209900 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin, Cachexia, Abnormal hair morphology, Lack of skin elasticity, Weig... |
ORPHA:1979 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Blue sclerae, High-frequency hearing impairment |
OMIM:619743 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Facial palsy, Optic disc coloboma, Severe sensorineural hearing impairm... |
OMIM:620186 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Dilated fourth ventricle, Hypoplasia of the bladder, Renal agenesis, Malformati... |
OMIM:249000 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Decreas... |
OMIM:216550 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Anorexia, Weight loss |
ORPHA:1302 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Thick eyebrow, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate e... |
OMIM:253220 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Abdominal distention, Hepatitis, Bloody diarrhea, Hy... |
ORPHA:436252 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Ataxia, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue histioc... |
OMIM:607625 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:250420 |
Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, ... |
ORPHA:191 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Retinal detachment, Posteriorly rotated ears, Recurrent skin infections, Dysesthesia, Cryptorchid... |
OMIM:601776 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Blue sclerae |
ORPHA:457365 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Blue sclerae, Peripapillary atrophy, Low-set ... |
ORPHA:536467 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Abdominal distention, Gastroesophageal reflux, Feeding difficulties |
OMIM:620275 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Low-set ears |
ORPHA:2165 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials, EEG with burst suppression, Brain atrophy, Cerebral atrophy |
OMIM:609304 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Splenomegaly, Abdominal distention, Hepatomegaly |
OMIM:602557 |
Congenital Disorder Of Glycosylation, Type It |
|
Recurrent otitis media, Blue sclerae, Hepatitis, Chronic hepatitis |
OMIM:614921 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Optic atrophy, Abnormal thalamic MRI signal intensity, Dysmetria, Aspiration ... |
ORPHA:845 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Hurler Syndrome |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... |
OMIM:607014 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anorexia, Abdominal pain, Cachexia, Diarrhea, Hematochezia, Vomiting, Nail dystrophy, A... |
OMIM:175500 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Inability to walk, Feeding difficulties, Constipation |
OMIM:616801 |
Osteogenesis Imperfecta, Type Xv |
|
Hypoplasia of the pons, Blue sclerae, Cerebellar hypoplasia |
OMIM:615220 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis |
OMIM:615122 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Abdominal distention... |
ORPHA:653 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Colitis, Exo... |
ORPHA:309031 |
Goldberg-Shprintzen Syndrome |
|
Blue sclerae, Aganglionic megacolon, Low-set ears |
OMIM:609460 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Bowel urgency, Poor appetite, Anorexia, Elevated circulating growth hormone concent... |
ORPHA:97287 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Anorexia, Abdominal pain, Cachexia, Splenomega... |
ORPHA:3452 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Blue sclerae |
ORPHA:231137 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Abnormal thalamus morphology, Low-set ears |
ORPHA:404440 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Splenomegaly, Erythema, Stage 5 chronic kidney disease, Skin ulc... |
ORPHA:90340 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cryptorchidism, Pointed h... |
ORPHA:3380 |
Grant Syndrome |
|
Blue sclerae |
ORPHA:2097 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Abnormality of the ureter, Sparse body hair, Aplasia/Hypopl... |
ORPHA:1133 |
Parietal Foramina 1 |
|
Blue sclerae |
OMIM:168500 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Hypospadias, Cachexia, Thin eyebrow |
ORPHA:3242 |
Nijmegen Breakage Syndrome |
|
Sinusitis, Retinal pigment epithelial mottling, Recurrent pneumonia, Bronchiectasis, Progressive ... |
OMIM:251260 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Macrotia, Cerebral cortical atrophy, Low-set ears |
OMIM:277400 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Hepatitis,... |
ORPHA:781 |
Thyroid Hypoplasia |
|
Abdominal distention, Jaundice, Constipation |
ORPHA:95720 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Blue sclerae |
OMIM:259410 |
Mohr Syndrome |
|
Conductive hearing impairment |
OMIM:252100 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomiting, Neut... |
ORPHA:37042 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Pituitary ... |
ORPHA:913 |
Perry Syndrome |
|
Weight loss, Depression |
ORPHA:178509 |
Melas |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, EEG abnormality,... |
ORPHA:550 |
Pseudodiastrophic Dysplasia |
|
Blue sclerae |
OMIM:264180 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Gait disturbance, Vomitin... |
ORPHA:88619 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Abdominal pain, Rena... |
ORPHA:93126 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
Panhypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95513 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Inability to walk, Tip-toe gait, Penetrating foot ulcers, Difficulty walking |
ORPHA:99956 |
15Q Overgrowth Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Low-set ea... |
ORPHA:314585 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Silver-Russell Syndrome 2 |
|
Blue sclerae |
OMIM:618905 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Adenohypophysitis |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone... |
ORPHA:95512 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hypoplasia of the pons, Optic atrophy, Pigmentary retinopathy, Cerebellar hypoplasia, Retinal dys... |
OMIM:613154 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Blue sclerae |
ORPHA:157965 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Oculodentodigital Dysplasia |
|
Conductive hearing impairment, Abnormal pinna morphology, Ataxia, Uveitis |
OMIM:164200 |
Silver-Russell Syndrome 1 |
|
Testicular seminoma, Cafe-au-lait spot, Blue sclerae, Decreased response to growth hormone stimul... |
OMIM:180860 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Dysuria, Abnormal cerebellum morphology, Hydronephrosis, Constipation, Dysphagia, Emotional labil... |
ORPHA:101000 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
Codas Syndrome |
|
Conductive hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Crumpled ear |
OMIM:600373 |
Charge Syndrome |
|
Mixed hearing impairment, Decreased response to growth hormone stimulation test, Facial palsy, Ap... |
OMIM:214800 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Pituitary ad... |
ORPHA:97289 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Acral ulceration |
OMIM:201300 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Cafe-au-lait spot, Blue sclerae |
OMIM:618707 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Inability to walk, Ataxia |
OMIM:617563 |
Laron Syndrome |
|
Osteoarthritis, Blue sclerae |
ORPHA:633 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Agenesis of pineal gland, Optic nerve hypoplasia, Cryptorchidi... |
ORPHA:536471 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Premature osteoarthritis, Mixed hearing impairment, Recurrent pneumonia, Sensorineural hearing im... |
OMIM:215150 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Chorea, Sensorineural hearing impairment, Optic atrophy, Gait ataxia, Pigmentary retinopa... |
ORPHA:255210 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Impaired pain sensation, Cryptorchidism, Sensorineural hearing impairment... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Impaired pain sensation, Cryptorchidism, Sensorineural hearing impairment... |
ORPHA:352665 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal co... |
OMIM:619351 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Prominent antihelix, Conductive heari... |
ORPHA:466943 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cryptorchidism, Blue sclerae, Low-set ears, Hearing impairment |
OMIM:616894 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Baller-Gerold Syndrome |
|
Conductive hearing impairment |
ORPHA:1225 |
Frontometaphyseal Dysplasia |
|
Mixed hearing impairment, Sensorineural hearing impairment, Chiari malformation, Conductive heari... |
ORPHA:1826 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Blue sclerae, Prominent antitragus, Microtia, Low-set ears |
OMIM:245600 |
Myopathic Ehlers-Danlos Syndrome |
|
Blue sclerae |
ORPHA:536516 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Abnormality of the testis size, Acne, Hypothalamic hamartoma |
ORPHA:649929 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention |
ORPHA:85166 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Proteinuria, Hypoperistalsis, Chronic kidney disease, Stage 5 chronic kidney disease, ... |
ORPHA:1018 |
Loeys-Dietz Syndrome 5 |
|
Overfolded helix, Blue sclerae, Osteoarthritis, Eosinophilic infiltration of the esophagus |
OMIM:615582 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Abdominal disten... |
ORPHA:2241 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Choreoacanthocytosis |
|
Compulsive behaviors, Loss of ambulation, Hepatomegaly, Self-mutilation of tongue and lips due to... |
ORPHA:2388 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Abdominal pain, Hypereosinophilia, Weight loss, Hydronephrosis |
ORPHA:449400 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Cryptorchidism, Spotty hypopigmentation, Low-set ears, Dandy... |
ORPHA:401973 |
Malignant Atrophic Papulosis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Peritonitis, Weight loss, Gastr... |
ORPHA:679 |
Congenital Myopathy 20 |
|
Blue sclerae |
OMIM:620310 |
Riddle Syndrome |
|
Ataxia, Abdominal pain, Diarrhea, Erythema, Enuresis nocturna, Weight loss, Gait disturbance, Sca... |
ORPHA:420741 |
Rett Syndrome |
|
Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Constipation, Gastroesophageal reflux, Bruxi... |
OMIM:312750 |
Branchiooculofacial Syndrome |
|
Agenesis of cerebellar vermis, Posteriorly rotated ears, Facial palsy, Cryptorchidism, Sensorineu... |
OMIM:113620 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Colonic Atresia |
|
Abdominal distention, Abnormal mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Psoriasiform lesion, Dysuri... |
OMIM:618131 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Anorexia, Renal salt wasting, Diarrhea, Episodic abdominal pa... |
ORPHA:361 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Leprechaunism |
|
Hepatomegaly, Abdominal distention, Long penis, Hypercalciuria, Nephrocalcinosis, Decreased body ... |
ORPHA:508 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Hepatosplenomegaly |
ORPHA:93352 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Feeding difficulties in infancy, Weight loss, Recurrent cutaneous absc... |
ORPHA:704 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Urinary incontinence, Bowel incontinence, Dysmetria, Enuresis nocturna, Polla... |
ORPHA:171629 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Abnormality of t... |
ORPHA:2556 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal pinna morphology, Elevated circulating luteinizing hormone level, Cryptorchidism, Abnorm... |
ORPHA:95699 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Congenital Myopathy 13 |
|
Conductive hearing impairment, Cryptorchidism, Low-set ears |
OMIM:255995 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Blue sclerae, Retinal hemorrhage, Angioid streaks of the fundus |
OMIM:177850 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Abnormal br... |
ORPHA:464311 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Weight loss, Hematuria, Anemia, Thrombocytopenia |
ORPHA:90060 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Alpha-Mannosidosis, Infantile Form |
|
Cerebellar atrophy, Optic disc pallor, Mixed hearing impairment, Ataxia, Pneumonia, Sensorineural... |
ORPHA:309282 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Microtia, third degree, Monorchism, Posteriorly rotated ears, Absent c... |
ORPHA:2753 |
Acute Disseminated Encephalomyelitis |
|
Interictal EEG abnormality, Viral hepatitis, Somatic sensory dysfunction, Ataxia, Abnormal cerebe... |
ORPHA:83597 |
Alkaptonuria |
|
Hearing abnormality, Osteoarthritis, Abnormality of skin pigmentation, Arthritis, Blue sclerae, I... |
ORPHA:56 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Blue sclerae |
OMIM:612350 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Self-injurious behavior, Con... |
ORPHA:371364 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Sensorineural hearing impairment, Blue sclerae, Low-set ears, Conductive hearing impairment, Hear... |
ORPHA:536545 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Chorea, Optic atrophy, Athetosis, Pigmentary retinopathy |
OMIM:617282 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Slow-growing hair, Short nail, Malformation of the hepatic ductal plate, Renal magn... |
OMIM:218330 |
Osteopathia Striata With Cranial Sclerosis |
|
Posteriorly rotated ears, Facial palsy, Microtia, Low-set ears, Conductive hearing impairment, Ov... |
OMIM:300373 |
Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
Lathosterolosis |
|
Conductive hearing impairment, Chiari malformation, Cerebral atrophy |
OMIM:607330 |
Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Cryptorchidism, Abnormal earlobe morphology, Anterior creases of earlobe, Melanocyt... |
ORPHA:116 |
Dyggve-Melchior-Clausen Disease |
|
Hyperactivity, Inability to walk, Difficulty walking, Protuberant abdomen, Failure to thrive |
ORPHA:239 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Splenomegaly, Weight loss,... |
ORPHA:465508 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Sparse eyebrow, Splenomegaly, Tip-toe gait, Mucopolysacchariduria, Pr... |
OMIM:252500 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Ataxia, Cryptorchidism, Heari... |
ORPHA:636 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Retinal hemorrhage, Angioid streaks of the fundus, Blue sclerae, Retinopathy |
ORPHA:758 |
Yao Syndrome |
|
Diarrhea, Weight loss, Nephrolithiasis, Abdominal pain |
OMIM:617321 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Mixed hearing impairment, Sensorineural hearing impairment |
OMIM:272460 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Conductive hearing impairment, Mixed hearing impairment, Overfolded helix, Sensorineural hearing ... |
OMIM:300990 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Renal hypoplasia, Renal cyst, Cerebellar hypoplasia, Molar tooth sign on MRI, Dan... |
OMIM:616300 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears |
OMIM:618500 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Cholecy... |
ORPHA:449395 |
Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Absent tragus, Cryptorchidism, Atresia of the external auditory canal,... |
OMIM:603457 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Conductive hearing impairment, Cryptorchidism, Low-set ears, Exostosis of the external auditory c... |
OMIM:265000 |
Mucolipidosis Type Ii |
|
Dry hair, Splenomegaly, Inability to walk, White hair, Hepatosplenomegaly, Fine hair, Weight loss... |
ORPHA:576 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Renal insufficiency, Anorexia, Abdominal p... |
ORPHA:79430 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Conductive hearing impairment, Recurrent otitis media |
ORPHA:2502 |
Osteogenesis Imperfecta, Type V |
|
Blue sclerae |
OMIM:610967 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Ataxia, Hearing imp... |
ORPHA:512 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abdominal pain, Chronic diarrhea, Functional abnormality of the gastrointest... |
ORPHA:90362 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, E... |
ORPHA:100078 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Decreased response to growth hormone... |
ORPHA:444077 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Gastroesophageal reflux, Cachexia |
OMIM:618186 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Osteogenesis Imperfecta, Type Ix |
|
Blue sclerae |
OMIM:259440 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Gastroesopha... |
ORPHA:652 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Gait disturbance, Cachexia, Proteinuria |
ORPHA:2774 |
Addison Disease |
|
Nausea and vomiting, Normocytic anemia, Failure to thrive, Salt craving, Anorexia, Abdominal pain... |
ORPHA:85138 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Oromandibular Dystonia |
|
Depression, Weight loss, Bruxism, Dysphagia |
ORPHA:93958 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pneumonia, Cryptorchidism, Sensorineural hearing impairment, EEG abnormality, Chiari malformation... |
ORPHA:353281 |
Native American Myopathy |
|
Conductive hearing impairment, Cryptorchidism |
ORPHA:168572 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conductive hearing impairment, Generalized hyperpigmentation, Protruding ear |
ORPHA:1071 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Abdominal distention, Congenital hepatic fibrosis, R... |
ORPHA:93271 |
3Mc Syndrome 1 |
|
Conductive hearing impairment, Hearing impairment |
OMIM:257920 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology, Dysuria, Abdominal pain |
ORPHA:293807 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Hydranencephaly |
|
Dysgenesis of the thalamus, Optic nerve hypoplasia, Thalamic edema, Chorioretinal atrophy, Infant... |
ORPHA:2177 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Failure to thrive, Secretory diarrhea |
OMIM:214700 |
Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal |
ORPHA:1393 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Mcdonough Syndrome |
|
Synophrys, Cachexia |
ORPHA:2471 |
22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Acne, Seborrheic dermatitis, Retinal arteriolar tortuosity, Cryptorchidism... |
ORPHA:567 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Feingold Syndrome Type 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Nephritis |
ORPHA:391641 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Grant Syndrome |
|
Blue sclerae |
OMIM:138930 |
Ramon Syndrome |
|
Optic disc pallor, Juvenile rheumatoid arthritis, Pigmentary retinopathy, Hearing impairment |
OMIM:266270 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Blue sclerae |
ORPHA:2840 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen |
OMIM:184250 |
Khan-Khan-Katsanis Syndrome |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Cerebellar vermis hypoplasia |
OMIM:618460 |
Wiedemann-Rautenstrauch Syndrome |
|
Ataxia, Decreased response to growth hormone stimulation test, Posteriorly rotated ears, Optic di... |
ORPHA:3455 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Spastic gait, Acral ulceration |
OMIM:256840 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hyperpigmented nevi, Progressive sensorineural hearing impairment, Abnormal thalamus morphology, ... |
ORPHA:2959 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:300578 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, EEG abnormality |
ORPHA:1496 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Polycystic kidney dysplasia, Molar too... |
OMIM:616546 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neu... |
OMIM:301078 |
Behçet Disease |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Renal insufficiency, Glomerulopathy, Ataxia, An... |
ORPHA:117 |
Hennekam Syndrome |
|
Conductive hearing impairment, External ear malformation, Erysipelas, Low-set ears |
ORPHA:2136 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Renal hypoplasia, Periportal fibrosis, Hypoplastic nipples, Protubera... |
OMIM:269860 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Epispadias, Partial agenesis of the corpus callosum, Molar tooth sign o... |
ORPHA:434179 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Feeding difficulties in infancy, Weight loss, Vomiting, Cholelithiasis |
ORPHA:171876 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Nephroblast... |
ORPHA:143 |
Neonatal Marfan Syndrome |
|
Crumpled ear, Blue sclerae, Decreased testicular size, Low-set ears |
ORPHA:284979 |
Hunter-Macdonald Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Premature osteoarthritis |
OMIM:611962 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Hypoplasia of penis, Abnormal hair pattern, Aggressive behavior,... |
ORPHA:85293 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Unilateral cryptorchidism, Impaired pain sensation, Prominent ear h... |
ORPHA:96149 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Inability to walk, Abnormal brainstem morp... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Inability to walk, Abnormal brainstem morp... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Inability to walk, Abnormal brainstem morp... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Inability to walk, Abnormal brainstem morp... |
ORPHA:93924 |
Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Blue sclerae, Chronic otitis media, Hearing im... |
ORPHA:1507 |
Sarcoidosis |
|
Increased T cell count, Subcutaneous nodule, Nephrocalcinosis, Leukopenia, Tubulointerstitial nep... |
ORPHA:797 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Larsen Syndrome |
|
Conductive hearing impairment, Cryptorchidism, Hearing impairment |
OMIM:150250 |
Hajdu-Cheney Syndrome |
|
Conductive hearing impairment, Cryptorchidism, Large earlobe, Low-set ears |
OMIM:102500 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Optic atroph... |
ORPHA:1606 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Ataxia, Dysuria, Feeding difficu... |
ORPHA:3463 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling |
OMIM:614105 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Urachal Cyst |
|
Abscess, Dysuria, Abdominal pain, Pyuria, Leukocytosis, Erythema, Peritonitis, Urachus fistula, H... |
ORPHA:488 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Reduced circulating prolactin concentrati... |
ORPHA:2235 |
Bullous Pemphigoid |
|
Macule, Erythema, Weight loss |
ORPHA:703 |
Faundes-Banka Syndrome |
|
Cryptorchidism, Cupped ear, Microtia, Long ear, Low-set ears, Conductive hearing impairment |
OMIM:619376 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Intestinal bleeding, Skin ulcer, Abdominal pain |
ORPHA:424016 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ... |
OMIM:154400 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Hypopituitarism |
OMIM:600462 |
African Trypanosomiasis |
|
Erythematous macule, Hepatomegaly, Alopecia, Renal insufficiency, Urinary incontinence, Akinesia,... |
ORPHA:3385 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Testic... |
ORPHA:744 |
Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulce... |
ORPHA:99867 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Short Syndrome |
|
Alopecia, Poor appetite, Weight loss, Excessive wrinkled skin, Sparse hair |
ORPHA:3163 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Thrombocytopenia, Splenomegaly... |
ORPHA:158048 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm... |
ORPHA:729 |
Acrofrontofacionasal Dysostosis 1 |
|
Mixed hearing impairment, Optic atrophy |
OMIM:201180 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy, Ataxia, Giant cell hepatitis |
ORPHA:79095 |
Turnpenny-Fry Syndrome |
|
Cerebellar vermis hypoplasia, Melanocytic nevus, Microtia, Low-set ears, Conductive hearing impai... |
OMIM:618371 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Cryptorchi... |
OMIM:607872 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... |
OMIM:615994 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Down Syndrome |
|
Conductive hearing impairment, Brushfield spots, Microtia, Aganglionic megacolon |
OMIM:190685 |
Autosomal Recessive Malignant Osteopetrosis |
|
Chronic rhinitis, Otitis media, Abnormality of visual evoked potentials, Optic nerve compression,... |
ORPHA:667 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Ataxia, Optic atrophy, Abnormal autonomic nervous system physiology, Abn... |
OMIM:231550 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Asplenia, Horseshoe kidney, Abnormal liver lobulation, Mult... |
ORPHA:99776 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... |
ORPHA:79233 |
Neu-Laxova Syndrome 2 |
|
Cerebellar hypoplasia, Protuberant abdomen |
OMIM:616038 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Choreoathetosis, Pigmentary retinop... |
ORPHA:157850 |
Chronic Beryllium Disease |
|
Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Lymphatic Malformation 7 |
|
Abdominal distention, Anemia |
OMIM:617300 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Blue irides, Microtia, Con... |
OMIM:129900 |
Baller-Gerold Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Optic atrophy, Chiari... |
OMIM:218600 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Blue sclerae, Absent earlobe, Low-set ears |
OMIM:130070 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Blue sclerae |
OMIM:619638 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Abnormality of retinal pigmentation, Ataxia, Impaired distal propri... |
ORPHA:14 |
Orofaciodigital Syndrome Type 2 |
|
Conductive hearing impairment, Central retinal vessel vascular tortuosity, Protruding ear |
ORPHA:2751 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Cryptorchidism, Microtia, Atresia of the external auditory canal |
OMIM:154500 |
Thanatophoric Dysplasia, Type I |
|
Protuberant abdomen |
OMIM:187600 |
Roberts Syndrome |
|
External ear malformation, Cryptorchidism, Blue sclerae, Absent earlobe |
ORPHA:3103 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Abnormality of the kidney, Microcytic anemia, Hypertrichos... |
ORPHA:168569 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Chiari type I malformation,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Chiari type I malformation,... |
ORPHA:353277 |
Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impair... |
ORPHA:2363 |
Postinfectious Vasculitis |
|
Viral hepatitis, Palpable purpura, Membranoproliferative glomerulonephritis, Proteinuria, Anorexi... |
ORPHA:48435 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Cryptorchidism, Senso... |
OMIM:206900 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Dysmetria, Distal sensory impairment, Gait ataxia, Pigmentary retinopath... |
OMIM:606721 |
Floating-Harbor Syndrome |
|
Conductive hearing impairment, Cryptorchidism, Cochlear malformation, Low-set ears |
ORPHA:2044 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... |
ORPHA:370997 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Autosomal Dominant Robinow Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Blue sclerae, Low-set ears, Hearing impairment |
ORPHA:3107 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Nail dystrophy, Skin ulcer |
OMIM:245660 |
Hypophosphatasia, Infantile |
|
Blue sclerae |
OMIM:241500 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Conductive hearing impairment, Macrotia, Calcification of the auricular... |
ORPHA:3042 |
Pallister-Hall-Like Syndrome |
|
Chiari type I malformation, Anterior hypopituitarism, Hypothalamic hamartoma |
OMIM:241800 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Proteinuria, Abnormality of body weight, Thrombocytopenia, Biliary cirrhosis, Increased... |
ORPHA:2298 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Glomerulonephritis, Perianal abscess,... |
ORPHA:2968 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Dysphagia |
ORPHA:142 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Sparse axillary hair, Microcytic ... |
OMIM:256040 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Hydronephrosis, Urethral atresia |
OMIM:271520 |
Renal Nutcracker Syndrome |
|
Proteinuria, Abdominal pain, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria... |
ORPHA:71273 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Protruding ear, Blue sclerae, Cerebellar hemisphere hypopl... |
ORPHA:500150 |
Kabuki Syndrome 1 |
|
Posteriorly rotated ears, Cryptorchidism, Protruding ear, Cafe-au-lait spot, Blue sclerae, Low-se... |
OMIM:147920 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Inflammation of the large intestine, Poor appetite, Weight loss |
ORPHA:324964 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Severe conductive hearing impairment |
ORPHA:230851 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy, Hearing impairment |
OMIM:309801 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Recurrent urinary tract infections, Dysuria, Abdominal pain |
ORPHA:284400 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Proteinuria, Cachexia, Der... |
OMIM:610965 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Conductive hearing impairment, Low-set, posteriorly rotated ears |
ORPHA:306542 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy |
OMIM:125310 |
Fontaine Progeroid Syndrome |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cryptorchidism, Cerebellar hypoplasia, Lo... |
OMIM:612289 |
Fraser Syndrome 1 |
|
Abnormal pinna morphology, Cryptorchidism, Cupped ear, Atresia of the external auditory canal, Lo... |
OMIM:219000 |
Orofaciodigital Syndrome Xiv |
|
Cerebellar vermis hypoplasia, Epispadias, Partial agenesis of the corpus callosum, Unilateral ren... |
OMIM:615948 |
Schneckenbecken Dysplasia |
|
Protuberant abdomen |
OMIM:269250 |
Tetrasomy 12P |
|
Sparse hair, Cachexia, Sparse eyebrow |
ORPHA:884 |
Multiple Myeloma |
|
Splenomegaly, Functional abnormality of the gastrointestinal tract, Weight loss, Abnormality of t... |
ORPHA:29073 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
Cerebrocostomandibular Syndrome |
|
Conductive hearing impairment, Posteriorly rotated ears, Low-set ears |
OMIM:117650 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Protuberant abdomen |
OMIM:151210 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Mixed hearing impairment, Ataxia, Osteoarthritis, Blue sclerae, Pare... |
ORPHA:666 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Highly arched eyebrow, Feeding difficulties, Gastroesophageal... |
OMIM:616268 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials, Brain atrophy |
OMIM:614457 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Optic atrophy, Conductive hearing impairment, ... |
ORPHA:709 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic constipation, Inflammation of th... |
OMIM:301074 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Leukocytosis, Subcutaneous nodule, We... |
ORPHA:764 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Bowel ir... |
OMIM:619381 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp... |
OMIM:602782 |
Secondary Syringomyelia |
|
Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysuria, Difficulty walking |
ORPHA:99857 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormal hair mo... |
ORPHA:647 |
Opsismodysplasia |
|
Renal phosphate wasting, Protuberant abdomen |
OMIM:258480 |
Osteogenesis Imperfecta, Type Ii |
|
Blue sclerae |
OMIM:166210 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Weight loss |
ORPHA:411703 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Weight loss, Chronic... |
ORPHA:103918 |
Wiedemann-Rautenstrauch Syndrome |
|
Posteriorly rotated ears, Pneumonia, Cryptorchidism, Blue sclerae, Chiari malformation, Low-set e... |
OMIM:264090 |
Interstitial Cystitis |
|
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... |
ORPHA:37202 |
Raine Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Posteriorly rotated ears, Protruding ear, Lo... |
OMIM:259775 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials |
ORPHA:1389 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Anterior ... |
ORPHA:227990 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Pretibial hyperpigmentation, Blue sclerae, Periodontitis |
OMIM:130080 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Diarrhea, Weight loss, Agitation |
ORPHA:424 |
Pearson Syndrome |
|
Ataxia, Decreased response to growth hormone stimulation test, Pigmentary retinopathy, Cafe-au-la... |
ORPHA:699 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Moderate albuminuri... |
ORPHA:99885 |
Fibrochondrogenesis 1 |
|
Protuberant abdomen |
OMIM:228520 |
Cole-Carpenter Syndrome 2 |
|
Blue sclerae |
OMIM:616294 |
Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Sensorin... |
ORPHA:199 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Chorea, Optic atrophy, Cerebral a... |
ORPHA:404454 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Thyroid Ectopia |
|
Abdominal distention, Jaundice, Constipation |
ORPHA:95712 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Viss Syndrome |
|
Sparse scalp hair, Alopecia, Abdominal distention, Chronic diarrhea, Hypereosinophilia, Feeding d... |
OMIM:619472 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Mixed hearing impairment, Hypoplasia o... |
OMIM:620305 |
Poems Syndrome |
|
Leukonychia, Weight loss, Thrombocytosis, Polycythemia, Increased circulating prolactin concentra... |
ORPHA:2905 |
Campomelic Dysplasia |
|
Conductive hearing impairment, Low-set ears, Hearing impairment |
OMIM:114290 |
Blau Syndrome |
|
Intermittent generalized erythematous papular rash, Skin ulcer |
OMIM:186580 |
Ruvalcaba Syndrome |
|
Abnormality of visual evoked potentials, Cryptorchidism, Hypopigmented skin patches |
ORPHA:3121 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Anterior ... |
ORPHA:227982 |
Floating-Harbor Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Atopic dermatitis, Recurrent otitis media, Low-set ears... |
OMIM:136140 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Carpenter Syndrome 2 |
|
Posteriorly rotated ears, Bilateral cryptorchidism, Cryptorchidism, Sensorineural hearing impairm... |
OMIM:614976 |
Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impairment, EEG abnormality, Con... |
OMIM:194190 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Blue sclerae |
OMIM:619120 |
Degcags Syndrome |
|
Hypopigmentation of hair, Posteriorly rotated ears, Pneumonia, Hearing impairment, Cryptorchidism... |
OMIM:619488 |
Pallister-Hall Syndrome |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Cryptorchidism, ... |
OMIM:146510 |
Greenberg Dysplasia |
|
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Protu... |
OMIM:215140 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Dry skin, Constipation |
OMIM:218700 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen |
ORPHA:2347 |
Tsh-Secreting Pituitary Adenoma |
|
Nausea and vomiting, Abnormal hair quantity, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:91347 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Eisenmenger Syndrome |
|
Brain abscess, Hepatomegaly, Renal insufficiency, Abdominal distention, Hypochromic microcytic an... |
ORPHA:97214 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, External ear malformation, Cryptorchidism, Atresia of the exte... |
ORPHA:2052 |
Achondrogenesis, Type Ii |
|
Protuberant abdomen |
OMIM:200610 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Few cafe-au-lait spots, Decreased response to growth hormone stimulat... |
OMIM:619503 |
Alagille Syndrome 1 |
|
Pigmentary retinopathy, Macrotia, Chorioretinal atrophy, Low-set ears |
OMIM:118450 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Blue sclerae |
OMIM:619115 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Weight loss, Dysphagia |
ORPHA:97286 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Recurr... |
ORPHA:84 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Conjunctivitis, Optic atrophy, Brain atrophy |
ORPHA:505248 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Anorexia, Abdominal pain, Renal interstitial edema, Renal neutrophilic tubulit... |
ORPHA:91500 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Decreased body weight, Cachexia, Feeding difficulties in infancy, Lo... |
ORPHA:800 |
Pseudoaminopterin Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Mild conductive hearing impairment, Hypoplasia... |
ORPHA:221120 |
Mowat-Wilson Syndrome |
|
Agenesis of cerebellar vermis, Ataxia, Posteriorly rotated ears, Uplifted earlobe, Impaired pain ... |
ORPHA:2152 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Retinal detachment, Blue sclerae, Recurrent pneumonia |
OMIM:225400 |
Mowat-Wilson Syndrome |
|
Hypospadias, Abnormality of the kidney, Supernumerary nipple, Abdominal distention, Constipation,... |
OMIM:235730 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Orofaciodigital Syndrome I |
|
Hearing impairment, Cerebral atrophy, Low-set ears, Hypothalamic hamartoma, Cerebellar cyst |
OMIM:311200 |
Pure Autonomic Failure |
|
Dysuria, Constipation, Urinary incontinence |
ORPHA:441 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Protuberant abdomen, Nevus flammeus of the forehead |
OMIM:618019 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Redundant neck skin, Large for gestational age, Feeding difficulties, Cutis laxa, H... |
ORPHA:96334 |
Desbuquois Dysplasia 2 |
|
Blue sclerae |
OMIM:615777 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Hyperpigmentation of the skin, Optic atrophy, Choreoathetosis, Pigmentary retinopathy, Ne... |
OMIM:234200 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Diarrhea, Agitation, Weight loss |
ORPHA:99819 |
Sotos Syndrome |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Hyperpigmentation of the skin, Cryptorchidis... |
ORPHA:821 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Opsismodysplasia |
|
Blue sclerae |
ORPHA:2746 |
Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Hypermelanotic macule, Prominent ear helix, Low-... |
ORPHA:740 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Rat-Bite Fever |
|
Diarrhea, Weight loss, Vomiting, Scaling skin, Pancreatitis, Anemia |
ORPHA:31205 |
Atelosteogenesis Type Ii |
|
Protuberant abdomen |
ORPHA:56304 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Weill-Marchesani Syndrome 2 |
|
Protuberant abdomen, Lack of skin elasticity, Striae distensae |
OMIM:608328 |
Achondrogenesis, Type Ia |
|
Protuberant abdomen |
OMIM:200600 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Blue sclerae |
OMIM:615349 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
Osteogenesis Imperfecta, Type Xviii |
|
Blue sclerae |
OMIM:617952 |
Classic Homocystinuria |
|
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:394 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Osteogenesis Imperfecta, Type X |
|
Blue sclerae, Recurrent pneumonia |
OMIM:613848 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Hardikar Syndrome |
|
Cholangitis, Vertigo, Pyelonephritis, Pigmentary retinopathy, Mild hearing impairment |
OMIM:301068 |
Nocardiosis |
|
Brain abscess, Liver abscess, Anorexia, Peritonitis, Subcutaneous nodule, Weight loss, Vomiting, ... |
ORPHA:31204 |
Wrinkly Skin Syndrome |
|
Cryptorchidism, Blue sclerae, Low-set ears |
OMIM:278250 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Cole-Carpenter Syndrome |
|
Blue sclerae |
ORPHA:2050 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Diffuse cerebral atrophy, Hypothalamic hamartoma |
OMIM:619908 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Cryptorchidism, Chiari malformation, Low-set ears, Conductive hearing impairment, Simple ear |
OMIM:201750 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Weight loss |
OMIM:188580 |
Familial Thrombocytosis |
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Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Abnormality of visual evoked potentials, Pontocerebellar atrophy, Facial palsy, Myositis |
ORPHA:258 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
Mitochondrial Trifunctional Protein Deficiency |
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Pigmentary retinopathy |
ORPHA:746 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Weight loss |
OMIM:613239 |
Atelosteogenesis, Type I |
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Protuberant abdomen |
OMIM:108720 |
Lower Urinary Tract Obstruction, Congenital |
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Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Ataxia, Proteinuria, Elevated circul... |
ORPHA:79318 |
Familial Cerebral Saccular Aneurysm |
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Abnormal brainstem morphology |
ORPHA:231160 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Pigmentary retinopathy |
ORPHA:71212 |
Focal Dermal Hypoplasia |
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Mixed hearing impairment, Linear hyperpigmentation, Cryptorchidism, Optic atrophy, Reticular hype... |
OMIM:305600 |
Osteogenesis Imperfecta, Type Vii |
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Hearing abnormality, Blue sclerae |
OMIM:610682 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Otopalatodigital Syndrome, Type Ii |
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Conductive hearing impairment, Cryptorchidism, Posteriorly rotated ears, Low-set ears |
OMIM:304120 |
Malt Lymphoma |
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Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Anemia |
ORPHA:52417 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
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Blue sclerae, Brain atrophy |
OMIM:616539 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Anorexia, Splenomegaly, Hypercalciuria, Weight loss, Inflammation of ... |
OMIM:181000 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, R... |
OMIM:306400 |
Aprosencephaly And Cerebellar Dysgenesis |
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Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Multiple cafe-au-lait spots, Cachexia, Anorexia, Melanocytic nevus |
ORPHA:1969 |
Craniofacial Microsomia 1 |
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Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditory canal, Chiar... |
OMIM:164210 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Dry skin, Ataxia, Dermal atrophy, Cachexia |
ORPHA:220295 |
Robinow Syndrome |
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Cryptorchidism, Mixed hearing impairment, Posteriorly rotated ears, Low-set ears |
ORPHA:97360 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Cryptorchidism, Blue sclerae, Enlarged cerebellum |
ORPHA:477993 |
Branchioskeletogenital Syndrome |
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Attached earlobe, Large earlobe, Mixed hearing impairment |
ORPHA:1299 |
Rheumatoid Arthritis |
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Weight loss |
OMIM:180300 |
Somatomammotropinoma |
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Dysuria, Elevated circulating growth hormone concentration, Synophrys, Pituitary adenoma, Depress... |
ORPHA:314769 |
Roberts-Sc Phocomelia Syndrome |
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Posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Blue sclerae, Low-set ears, ... |
OMIM:268300 |
Oculopharyngodistal Myopathy 1 |
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Weight loss, Ataxia, Difficulty walking, Dysphagia |
OMIM:164310 |
Congenital Fiber-Type Disproportion Myopathy |
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Poor appetite, Nasogastric tube feeding in infancy, Feeding difficulties, Weight loss, Dysphagia,... |
ORPHA:2020 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
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Cryptorchidism, Blue sclerae |
OMIM:616728 |
Juvenile Polyposis Of Infancy |
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Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abdominal pain, Diarrhea, Hematochezia,... |
ORPHA:79076 |
Reactive Arthritis |
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Recurrent urinary tract infections, Abdominal pain, Diarrhea, Weight loss, Inflammation of the la... |
ORPHA:29207 |
Acromegaly |
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Dysuria, Elevated circulating growth hormone concentration, Synophrys, Long penis, Wide penis, De... |
ORPHA:963 |
Retinoblastoma |
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Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Uveitis, Retinal c... |
ORPHA:790 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Frontal balding, Renal salt wasting, Long penis, Feeding difficulties, Elevated urinary epinephri... |
ORPHA:90794 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of... |
OMIM:203700 |
Goodpasture Syndrome |
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Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce... |
OMIM:233450 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Multiple cafe-au-lait spots, Subcutaneous nodule, Cachexia, Nevus |
ORPHA:109 |
Blomstrand Lethal Chondrodysplasia |
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Protuberant abdomen |
ORPHA:50945 |
Pallister-Hall Syndrome |
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Low-set, posteriorly rotated ears, Cryptorchidism, Adrenocorticotropic hormone deficiency, Gonado... |
ORPHA:672 |
Parkinson Disease 4, Autosomal Dominant |
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Weight loss |
OMIM:605543 |
Night Blindness, Congenital Stationary, Type 1B |
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Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Vascular Ehlers-Danlos Syndrome |
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Cryptorchidism, Vertigo, Aplasia/Hypoplasia of the earlobes, Osteoarthritis, Protruding ear, Mela... |
ORPHA:286 |
Pulmonary Alveolar Microlithiasis |
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Hematuria, Hepatomegaly, Calcium nephrolithiasis, Weight loss |
ORPHA:60025 |
Pyknoachondrogenesis |
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Abdominal distention |
ORPHA:3003 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Weight loss, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Williams Syndrome |
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Low-set, posteriorly rotated ears, Ataxia, Atrophy/Degeneration involving the corticospinal tract... |
ORPHA:904 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Blue sclerae |
OMIM:271640 |
Fryns-Smeets-Thiry Syndrome |
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Cachexia |
ORPHA:2058 |
Loeys-Dietz Syndrome 1 |
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Blue sclerae, Eosinophilic infiltration of the esophagus, Chiari malformation |
OMIM:609192 |
Pudendal Neuralgia |
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Abdominal colic, Dysuria, Episodic abdominal pain, Pollakisuria, Constipation |
ORPHA:60039 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
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Chronic diarrhea, Cachexia |
ORPHA:3217 |
Infantile Nephropathic Cystinosis |
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Pigmentary retinopathy |
ORPHA:411629 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Weight loss |
ORPHA:747 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Retroperitoneal fibrosis, Tubulointerstitial nephritis, Thrombocytopenia, Weight loss |
ORPHA:79078 |
Loeys-Dietz Syndrome 2 |
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Blue sclerae, Eosinophilic infiltration of the esophagus, Chiari malformation |
OMIM:610168 |
Seckel Syndrome |
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Sparse scalp hair, Cachexia |
ORPHA:808 |
Marfan Syndrome |
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Cachexia, Attention deficit hyperactivity disorder, Slender build, Striae distensae |
ORPHA:558 |
Fibromuscular Dysplasia, Multifocal |
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Blue sclerae |
OMIM:619329 |
Lacrimoauriculodentodigital Syndrome 1 |
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Mixed hearing impairment, Cupped ear, Microtia, Conjunctivitis, Hearing impairment |
OMIM:149730 |
Stickler Syndrome |
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Feeding difficulties in infancy, Slender build, Gastroesophageal reflux, Cachexia |
ORPHA:828 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegal... |
OMIM:252920 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Malnutrition |
ORPHA:75565 |
Loeys-Dietz Syndrome |
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Blue sclerae |
ORPHA:60030 |