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Gene: Naglu MGI:1351641

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Naglu mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Naglu by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Impaired vibratory sensation, Paresthesia, Sensory ataxia, Distal sensory impairment OMIM:616491
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegal... OMIM:252920

The table below shows human diseases predicted to be associated to Naglu by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Weight loss OMIM:188580
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Pontocerebellar atrophy, Facial palsy, Myositis ORPHA:258
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Atelosteogenesis, Type I
Protuberant abdomen OMIM:108720
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
Pmm2-Cdg
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Ataxia, Proteinuria, Elevated circul... ORPHA:79318
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Focal Dermal Hypoplasia
Mixed hearing impairment, Linear hyperpigmentation, Cryptorchidism, Optic atrophy, Reticular hype... OMIM:305600
Osteogenesis Imperfecta, Type Vii
Hearing abnormality, Blue sclerae OMIM:610682
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Otopalatodigital Syndrome, Type Ii
Conductive hearing impairment, Cryptorchidism, Posteriorly rotated ears, Low-set ears OMIM:304120
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Anemia ORPHA:52417
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Blue sclerae, Brain atrophy OMIM:616539
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Anorexia, Splenomegaly, Hypercalciuria, Weight loss, Inflammation of ... OMIM:181000
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, R... OMIM:306400
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia OMIM:601374
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Cachexia, Anorexia, Melanocytic nevus ORPHA:1969
Craniofacial Microsomia 1
Sensorineural hearing impairment, Anotia, Microtia, Atresia of the external auditory canal, Chiar... OMIM:164210
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Dry skin, Ataxia, Dermal atrophy, Cachexia ORPHA:220295
Robinow Syndrome
Cryptorchidism, Mixed hearing impairment, Posteriorly rotated ears, Low-set ears ORPHA:97360
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Blue sclerae, Enlarged cerebellum ORPHA:477993
Branchioskeletogenital Syndrome
Attached earlobe, Large earlobe, Mixed hearing impairment ORPHA:1299
Rheumatoid Arthritis
Weight loss OMIM:180300
Somatomammotropinoma
Dysuria, Elevated circulating growth hormone concentration, Synophrys, Pituitary adenoma, Depress... ORPHA:314769
Roberts-Sc Phocomelia Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Blue sclerae, Low-set ears, ... OMIM:268300
Oculopharyngodistal Myopathy 1
Weight loss, Ataxia, Difficulty walking, Dysphagia OMIM:164310
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Nasogastric tube feeding in infancy, Feeding difficulties, Weight loss, Dysphagia,... ORPHA:2020
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cryptorchidism, Blue sclerae OMIM:616728
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abdominal pain, Diarrhea, Hematochezia,... ORPHA:79076
Reactive Arthritis
Recurrent urinary tract infections, Abdominal pain, Diarrhea, Weight loss, Inflammation of the la... ORPHA:29207
Acromegaly
Dysuria, Elevated circulating growth hormone concentration, Synophrys, Long penis, Wide penis, De... ORPHA:963
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Uveitis, Retinal c... ORPHA:790
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Frontal balding, Renal salt wasting, Long penis, Feeding difficulties, Elevated urinary epinephri... ORPHA:90794
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of... OMIM:203700
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Glomerular cresce... OMIM:233450
Bannayan-Riley-Ruvalcaba Syndrome
Multiple cafe-au-lait spots, Subcutaneous nodule, Cachexia, Nevus ORPHA:109
Blomstrand Lethal Chondrodysplasia
Protuberant abdomen ORPHA:50945
Pallister-Hall Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Adrenocorticotropic hormone deficiency, Gonado... ORPHA:672
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Vertigo, Aplasia/Hypoplasia of the earlobes, Osteoarthritis, Protruding ear, Mela... ORPHA:286
Pulmonary Alveolar Microlithiasis
Hematuria, Hepatomegaly, Calcium nephrolithiasis, Weight loss ORPHA:60025
Pyknoachondrogenesis
Abdominal distention ORPHA:3003
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Anemia, Hepatosplenomegaly ORPHA:85408
Williams Syndrome
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
Blue sclerae OMIM:271640
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Loeys-Dietz Syndrome 1
Blue sclerae, Eosinophilic infiltration of the esophagus, Chiari malformation OMIM:609192
Pudendal Neuralgia
Abdominal colic, Dysuria, Episodic abdominal pain, Pollakisuria, Constipation ORPHA:60039
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Cachexia ORPHA:3217
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Tubulointerstitial nephritis, Thrombocytopenia, Weight loss ORPHA:79078
Loeys-Dietz Syndrome 2
Blue sclerae, Eosinophilic infiltration of the esophagus, Chiari malformation OMIM:610168
Seckel Syndrome
Sparse scalp hair, Cachexia ORPHA:808
Marfan Syndrome
Cachexia, Attention deficit hyperactivity disorder, Slender build, Striae distensae ORPHA:558
Fibromuscular Dysplasia, Multifocal
Blue sclerae OMIM:619329
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Cupped ear, Microtia, Conjunctivitis, Hearing impairment OMIM:149730
Stickler Syndrome
Feeding difficulties in infancy, Slender build, Gastroesophageal reflux, Cachexia ORPHA:828
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Splenomegal... OMIM:252920
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Malnutrition ORPHA:75565
Loeys-Dietz Syndrome
Blue sclerae ORPHA:60030

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Naglu

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Naglu.

No publications found that use IMPC mice or data for Naglu.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Naglutm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Naglutm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Naglutm199115(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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