Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Scarb2 MGI:1196458

Gene Summary

Name:

scavenger receptor class B, member 2

Synonyms:

LIMP II, LIMP-2, Cd36l2, 9330185J12Rik, LGP85

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased heart rate variability	Scarb2^em2(IMPC)Tcp	HOM	Early adult	1.78×10^-07
decreased mean corpuscular volume	Scarb2^em2(IMPC)Tcp	HOM	Early adult	4.49×10^-05
abnormal QT variability	Scarb2^em2(IMPC)Tcp	HOM	Early adult	8.13×10^-05
thrombocytosis	Scarb2^em2(IMPC)Tcp	HOM	Early adult	3.80×10^-07
prolonged RR interval	Scarb2^em2(IMPC)Tcp	HOM	Early adult	2.11×10^-05
decreased monocyte cell number	Scarb2^em2(IMPC)Tcp	HOM	Early adult	6.07×10^-05
enlarged kidney	Scarb2^em2(IMPC)Tcp	HOM	Early adult	0.00
increased blood urea nitrogen level	Scarb2^em2(IMPC)Tcp	HOM	Early adult	7.24×10^-05
enlarged lymph nodes	Scarb2^em2(IMPC)Tcp	HOM	Early adult	0.00
increased circulating calcium level	Scarb2^em2(IMPC)Tcp	HOM	Early adult	6.52×10^-05
increased lean body mass	Scarb2^em2(IMPC)Tcp	HOM	Early adult	7.33×10^-07
increased lymphocyte cell number	Scarb2^em2(IMPC)Tcp	HOM	Early adult	1.29×10^-06
cardiovascular system phenotype	Scarb2^em2(IMPC)Tcp	HOM	Early adult	4.54×10^-08
increased bone mineral content	Scarb2^em2(IMPC)Tcp	HOM	Early adult	5.82×10^-07
increased neutrophil cell number	Scarb2^em2(IMPC)Tcp	HOM	Early adult	1.09×10^-05
abnormal sinus arrhythmia	Scarb2^em2(IMPC)Tcp	HOM	Early adult	6.21×10^-06
preweaning lethality, incomplete penetrance	Scarb2^em2(IMPC)Tcp	HOM	Early adult	0.00
decreased total body fat amount	Scarb2^em2(IMPC)Tcp	HOM	Early adult	2.19×10^-16
increased leukocyte cell number	Scarb2^em2(IMPC)Tcp	HOM	Early adult	4.77×10^-09

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Immunophenotyping

Panel B FCS file(s)

6 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Immunophenotyping

Panel A FCS file(s)

6 Images

View images

Gross Pathology and Tissue Collection

Images

9 Images

View images

Histopathology

Images

1 Images

View images

Eye Morphology

Images Ophthalmoscopy

1 Images

View images

Human diseases caused by Scarb2 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.

Human diseases associated with Scarb2 (3 diseases)
Human diseases predicted to be associated with Scarb2 (2008 diseases)

The table below shows human diseases associated to Scarb2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tre...	OMIM:254900
Gaucher Disease Type 1	Hematuria, Proteinuria, Anorexia, Abdominal pain	ORPHA:77259

The table below shows human diseases predicted to be associated to Scarb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Bor Syndrome	Ureteropelvic junction obstruction, Renal insufficiency, Multicystic kidney dysplasia, Facial pal...	ORPHA:107
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ...	ORPHA:75564
Familial Infantile Bilateral Striatal Necrosis	Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Spasticity, G...	ORPHA:225154
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Hematuria, Hypertension, Weight...	ORPHA:69077
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia	OMIM:300857
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Sensorineural hearing impairment, Proteinuria	ORPHA:2820
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea...	ORPHA:2838
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis, Round ear	ORPHA:1450
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment, Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein c...	OMIM:614034
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, EEG with burst suppression, Hypsarrhythmia, Ureteropelvic junction obstruction, Po...	OMIM:616973
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu...	ORPHA:204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Astrocytosis, Myoclonus, Dystonia, Neuronal loss in central nervous syst...	OMIM:600795
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Salt craving, Renal salt wasting, Renal magnesi...	ORPHA:199343
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Coenzyme Q10 Deficiency, Primary, 8	Feeding difficulties, Abnormal renal corticomedullary differentiation, Peripheral demyelination, ...	OMIM:616733
Autosomal Recessive Spastic Paraplegia Type 27	Sensorineural hearing impairment, Spastic/hyperactive bladder, Abnormality of somatosensory evoke...	ORPHA:101007
Lower Limb Malformation-Hypospadias Syndrome	Low-set, posteriorly rotated ears, Macrotia, Hypospadias, Abnormality of the ureter	ORPHA:2487
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidney disease, Focal segmental gl...	OMIM:614455
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Astr...	ORPHA:282166
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
46,Xy Sex Reversal 4	Renal dysplasia, Sensorineural hearing impairment, Microtia, Recurrent otitis media, Ureteropelvi...	OMIM:154230
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Sensorineural hearing impairment, Optic atrophy...	OMIM:311070
Gabriele-De Vries Syndrome	Delayed CNS myelination, Posteriorly rotated ears, Tremor, Feeding difficulties, Low-set ears, Dy...	OMIM:617557
Thrombocythemia 3	Thrombocytosis, Ischemic stroke	OMIM:614521
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle...	OMIM:604416
Cednik Syndrome	Proteinuria, Pachygyria, Sensorineural hearing impairment, Optic atrophy, Nephrotic syndrome, Mac...	ORPHA:66631
Hematuria, Benign Familial, 2	Sensorineural hearing impairment, Microscopic hematuria, Proteinuria, Abnormal glomerular basemen...	OMIM:620320
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
X-Linked Intellectual Disability, Schimke Type	Hearing impairment, Hydronephrosis, Choreoathetosis, Vesicoureteral reflux, Poor suck, Cerebral c...	ORPHA:85285
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Delayed femoral head ossification, Enlarged tonsils, Multicentric femoral head ossi...	ORPHA:168621
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Distal Renal Tubular Acidosis	Hyperphosphaturia, Poor appetite, Hypocitraturia, Sensorineural hearing impairment, Diarrhea, Nep...	ORPHA:18
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Optic disc coloboma...	ORPHA:2260
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Salt craving, Polyuria, Renal salt wasting, Sensorineural hearing impairment,...	OMIM:612780
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Sensorineural hearing impairment, Dysphagia, Progressive sensorineural hearing impairment, Periph...	OMIM:607736
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118220
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, CNS hypomyelination, Abnor...	ORPHA:320401
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi...	ORPHA:71277
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he...	OMIM:617519
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy	OMIM:617018
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Increased mean cor...	OMIM:616689
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Microtia, Vesicouret...	ORPHA:2438
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Splenome...	ORPHA:824
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Galloway-Mowat Syndrome 8	Delayed CNS myelination, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndro...	OMIM:618349
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Urinary incontinence, Decreased nerve conduction velocity, Dysphagia, CNS demyelination, Peripher...	OMIM:249900
Macdermot-Winter Syndrome	Macrotia, Posteriorly rotated ears, Hydronephrosis	OMIM:247990
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Krabbe Disease	Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Ne...	OMIM:245200
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Porphyria, Acute Hepatic	Hemolytic anemia, Failure to thrive, Respiratory paralysis, Paralysis	OMIM:612740
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia	ORPHA:2123
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst, Anemia	ORPHA:2668
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Urinary incontinence, Aggressive behavior, Cerebral atrophy, EEG abnormality, Ax...	OMIM:221770
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia	OMIM:600116
Charcot-Marie-Tooth Disease, Type 4K	Sensorineural hearing impairment, Axonal loss, Dystonia, Peripheral demyelination, Hearing impair...	OMIM:616684
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l...	OMIM:619468
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Abnormal autonom...	OMIM:598500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Sandhoff Disease, Adult Form	Reduced beta-hexosaminidase activity, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dyston...	ORPHA:309169
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Posteriorly rotated ears, Aggressive behavior, Dilatation of renal calices, Sensorineural hearing...	ORPHA:466943
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Astrocytosis	OMIM:607341
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607734
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Type I diabetes mellitus, Hearing impairment	OMIM:560000
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme...	ORPHA:206594
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Sensorineural hearing impairment, Hydroureter, Hydronephrosis	OMIM:264140
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Galloway-Mowat Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Large earlobe, Focal segmental glomerulosclerosis, B...	OMIM:617731
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Purple urine, Abdominal pain, Abdominal distention, Diarrhea, Abnormal fear-induced...	ORPHA:100924
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Constipation,...	ORPHA:225
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:604563
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Posteriorly rotated ears, Hypospadias, Sensorineural hearing impairment, Dysph...	OMIM:214100
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Abdominal distention, Sensorineural hearing impairment, Delayed myelination, ...	ORPHA:79097
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Stage 5 chronic kidney diseas...	OMIM:268315
Congenital Myopathy 19	Posteriorly rotated ears, Renal atrophy, Low-set ears, Dysphagia, Hydronephrosis, Hearing impairment	OMIM:618578
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Renal insufficiency, Dysuria, Anorexia, Abdominal pain, Renovascular hyperte...	ORPHA:49041
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyuria, Hyperglycemia, Polyphagia	OMIM:222100
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Posteriorly rotated ears, Aggressive behavior, Dilatation of renal calices, Prominent antihelix, ...	ORPHA:466950
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Hyp...	OMIM:241500
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Spasticity, Tremor, Gait ataxia	ORPHA:217012
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ureteral stenosis, Hydroureter, Hypercalciuria, Cerebral atrophy, Renal cyst,...	OMIM:615398
Neuromyelitis Optica Spectrum Disorder	Peripheral demyelination, Neuronal loss in central nervous system, Functional abnormality of the ...	ORPHA:71211
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, R...	OMIM:619902
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failu...	ORPHA:94080
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d...	ORPHA:52368
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Feed...	ORPHA:3463
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria, Hearing impairment	ORPHA:79087
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Congenital Myopathy 17	Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia, Low-set ears	OMIM:618975
Spinocerebellar Ataxia 37	Cerebellar atrophy, Frequent falls, Ataxia, Tremor	OMIM:615945
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp...	ORPHA:94093
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Aminoaciduria, Renal Fa...	ORPHA:436271
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Tremor, Sensorineural hearing impairment, Nephrotic syndrome, Type I diabetes mellit...	ORPHA:1192
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Hypoplasia of penis, Optic nerve hypoplasia, Maternal diabetes, Sensorineu...	ORPHA:3157
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Butyrylcholinesterase Deficiency	Abnormal circulating enzyme concentration or activity, Paralysis	ORPHA:132
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Cerebral atr...	OMIM:617672
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney, Hearing impairment	ORPHA:195
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Familial Cold Urticaria	Nausea and vomiting, Sensorineural hearing impairment, Polydipsia, Abdominal pain	ORPHA:47045
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Urinary bladder sphincter dysfunction, Peripheral demyelination	ORPHA:231445
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Spinocerebellar Ataxia 25	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Urinary urgency, Vomi...	OMIM:608703
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis, Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Fasc...	ORPHA:275864
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Nausea, Nephrolithiasis, Athetosis, Polydipsia, Tinnitus	ORPHA:369929
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Elevated circulating C-reactive protein concentration, Follicular hyperplasia,...	OMIM:615934
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Gastrointestinal dysmotility, Renal cyst, Vomiting, Gastroesophageal re...	OMIM:270400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Lissencephaly, Low-set ears...	OMIM:613404
Acrocephalopolydactyly	Abnormal renal morphology, Microtia, Protuberant abdomen	ORPHA:221054
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Feeding difficulties, Decreased intestinal t...	OMIM:620045
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Polydipsia, Tinnitus, Nausea	ORPHA:251274
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cort...	OMIM:231680
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Polydipsia, Nocturia	ORPHA:178029
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic ...	OMIM:274150
6P22 Microdeletion Syndrome	Overfolded helix, Hydronephrosis, Low-set ears, Hearing impairment	ORPHA:251046
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Small intestinal dysmoti...	ORPHA:298
2p15-16.1 microdeletion syndrome	Feeding difficulties in infancy, Hydronephrosis	DECIPHER:70
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
8P23.1 Duplication Syndrome	Hydronephrosis, Hearing impairment	ORPHA:251076
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Diabetes mellitus, Tremor, Sensorineural hearing impairment, Opt...	OMIM:222300
Gabriele-De Vries Syndrome	Posteriorly rotated ears, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Tremor, Del...	ORPHA:506358
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Recurrent urinary ...	OMIM:617585
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Nephrogenic Diabetes Insipidus	Nausea and vomiting, Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bl...	ORPHA:223
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidne...	OMIM:614650
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Tremor, Gait ataxia	ORPHA:423296
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis...	OMIM:616053
Galactosemia I	Diarrhea, Albuminuria, Aminoaciduria, Vomiting, Decreased liver function, Galactosuria, Increased...	OMIM:230400
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ...	OMIM:226300
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Medullary nephrocalcinosis	OMIM:143880
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:180800
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Vomiting, Type I diab...	ORPHA:213
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Renal tubular dy...	OMIM:220110
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres...	ORPHA:101112
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ...	OMIM:601455
Hypophosphatasia	Craniosynostosis, Failure to thrive in infancy, Hypercalcemia, Anemia	ORPHA:436
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Congestive heart failure, Thrombocytopenia, Flexion cont...	OMIM:617303
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia, Hearing impairment	OMIM:615996
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Cerebellar-Facial-Dental Syndrome	Ureteropelvic junction obstruction, Hydronephrosis, Low-set ears	ORPHA:444072
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Feeding difficulties in infancy, Ab...	OMIM:248250
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Feeding difficulties in infancy, Absen...	OMIM:252150
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevat...	OMIM:619644
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Episodic abdominal pain, Urinary ur...	ORPHA:101111
Meckel Syndrome, Type 8	Abdominal distention, Polycystic kidney dysplasia, Low-set ears, Hyperechogenic kidneys, Enlarged...	OMIM:613885
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis, Dystonia, Spa...	OMIM:615924
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility...	OMIM:613662
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block...	ORPHA:398124
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Reduced bone mineral density, Hypocalcem...	ORPHA:172
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Vomiting, L...	OMIM:300048
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Hippocampal sclerosis, Myoclonus	OMIM:615400
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Tinnitus, Nausea, Increased urinary potassium	ORPHA:231580
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Urinary incontinence, EEG abnormality, CNS demyel...	ORPHA:206448
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Feeding difficulties, Gastroesophageal reflux, Low-set ears, ...	ORPHA:319182
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Aganglionic...	ORPHA:818
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ...	OMIM:615889
Diaminopentanuria	Spasticity, Neurodegeneration, Ataxia	OMIM:222350
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent...	ORPHA:90064
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr...	ORPHA:100070
Image Syndrome	Hypospadias, Hydronephrosis, Low-set ears	ORPHA:85173
Al Amyloidosis	Gastrointestinal hemorrhage, Renal insufficiency, Gastroparesis, Abnormality of the kidney, Prote...	ORPHA:85443
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Decreased nerve conduction velocity, Feeding difficulties in infancy, Abdom...	ORPHA:309256
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Low-set ears, Attention deficit hyperactivity disorder, ...	OMIM:614294
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia	ORPHA:100025
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral...	OMIM:611302
Gitelman Syndrome	Salt craving, Polyuria, Abdominal pain, Renal magnesium wasting, Vertigo, Enuresis, Constipation,...	OMIM:263800
Ravine Syndrome	Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:145900
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Multiple Sulfatase Deficiency	Cerebellar atrophy, Cerebral atrophy, Mucopolysacchariduria, CNS demyelination, Peripheral demyel...	OMIM:272200
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ureteropelvic junction obstruction, Exaggerated startle response, Posteriorly...	OMIM:619522
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Decreased nerve conduction velocity, Abdominal distention, Optic atrophy, B...	ORPHA:309263
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal degeneration, De...	OMIM:302800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Ketonuria, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Hyperammonemia, We...	ORPHA:20
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Rudiger Syndrome	Micropenis, Ureterovesical stenosis	OMIM:268650
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Cerebral atrophy, Paralysis	OMIM:616286
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urinary potassium,...	OMIM:613090
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, Hyperuricemia, ...	ORPHA:134
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reactive protein concen...	OMIM:615688
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118200
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Segme...	OMIM:601098
Panhypophysitis	Orthostatic hypotension, Poor appetite, Sensorineural hearing impairment, Hyposthenuria, Polydips...	ORPHA:95513
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Violent behavior, Uplifted earlobe, Overfolded helix, Cerebral atro...	OMIM:280000
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Supranuclear Palsy, Progressive, 1	Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, ...	OMIM:601104
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:614895
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, D...	ORPHA:93111
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ...	OMIM:618314
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Decreased compound muscle action potential amplitude, Onion bulb formation, Peripheral demyelinat...	OMIM:618279
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Cerebral atrophy, Feeding difficulties, Macrotia, Hydronephrosis	OMIM:619797
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Splenomegaly, Elbow flexi...	OMIM:618440
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Incr...	ORPHA:79263
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl...	ORPHA:521406
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormalit...	ORPHA:99885
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Chronic myelogen...	ORPHA:71493
Orofaciodigital Syndrome Xv	Hydronephrosis, Low-set ears	OMIM:617127
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Posterior Column Ataxia With Retinitis Pigmentosa	Recurrent urinary tract infections, Urinary incontinence, Optic atrophy, Achalasia, Decreased sen...	OMIM:609033
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign...	ORPHA:98762
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia, Hyperglycemia	OMIM:615986
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Abnormality of the kidney, Microcytic anemia, Abnormal cardi...	ORPHA:168569
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond...	ORPHA:2932
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinos...	ORPHA:99879
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins...	OMIM:615157
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,...	OMIM:612319
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, EEG abnormality, Abnormality of the ureter, Hypoplasia of the ...	ORPHA:1035
Primary Pulmonary Hypoplasia	Ureteral stenosis, Low-set ears	ORPHA:2257
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Limb tremor, Constipation, Decreased ...	OMIM:614877
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg...	OMIM:612526
Leiomyomatosis, Diffuse, With Alport Syndrome	High-frequency sensorineural hearing impairment, Renal insufficiency, Glomerular basement membran...	OMIM:308940
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118210
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy	OMIM:610951
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Poems Syndrome	Sclerosis of hand bone, Thrombocytosis, Lipodystrophy, Sclerosis of foot bone, Lymphadenopathy, W...	ORPHA:2905
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Proteinuria, E...	ORPHA:276621
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Pulmonic stenosis, Po...	OMIM:615382
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Failure to thrive, H...	ORPHA:199299
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria,...	OMIM:252160
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Sensorineural hearing impairment, Athetosis, EEG abnormality, Abnormality of t...	ORPHA:2719
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure...	ORPHA:93929
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Restless legs, Demyelinating sensory neuropathy, Optic nerve...	ORPHA:101085
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting, Polydipsia	OMIM:125800
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spasticity, Cerebel...	OMIM:213200
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Feeding difficulties in infancy, Megacystis, Constipation, Vomiting, Polydipsia	OMIM:304800
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Posteriorly rotated ears, Unilateral renal agenesis, Renal hypoplasia, Cerebral atrophy, Hypsarrh...	OMIM:618494
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphaden...	ORPHA:29073
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Abnorm...	OMIM:611555
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro...	ORPHA:363710
Monosomy 9P	Hypospadias, Abnormal antihelix morphology, Anotia, Microtia, Atresia of the external auditory ca...	ORPHA:261112
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Recombinant Chromosome 8 Syndrome	Delayed CNS myelination, Posteriorly rotated ears, Cerebral atrophy, Low-set ears, Hydronephrosis...	OMIM:179613
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Lowe-Kohn-Cohen Syndrome	Nephropathy, Sensorineural hearing impairment	ORPHA:2408
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Hypertens...	OMIM:232220
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Delayed myelination, Multifocal epileptiform discharges, EEG with generalized epileptiform discha...	ORPHA:488613
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Abdominal distention, Optic disc coloboma, Secretory diarrhea, Low-set ears...	OMIM:270420
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra...	OMIM:143100
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas...	OMIM:615244
Granulomatosis With Polyangiitis	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Glomerulopathy, Uretera...	ORPHA:900
Thrombocytopenia 5	Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Charcot-Marie-Tooth Disease, Type 4B3	Urinary incontinence, Decreased nerve conduction velocity, Brain atrophy, Myelin outfoldings, Oni...	OMIM:615284
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis	OMIM:615994
Hyperparathyroidism 4	Osteopenia, Nephrolithiasis, Hypercalcemia	OMIM:617343
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention, Renal cyst	OMIM:174050
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination, Hea...	ORPHA:101082
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Glucose/Galactose Malabsorption	Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria, Abnormal oral gluco...	OMIM:606824
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, D...	OMIM:607136
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemi...	OMIM:613179
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst...	ORPHA:464329
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv...	OMIM:610198
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Null Syndrome	Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Abnormality of periphera...	ORPHA:280234
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, ...	OMIM:271245
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu...	ORPHA:90647
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Spinocerebellar Ataxia 23	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Neuronal loss in ...	OMIM:610245
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Diarrhea, Hypercalci...	OMIM:241200
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory...	ORPHA:99953
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal loss, Clusters of axo...	ORPHA:101097
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention, Proteinuria, Abnormality of the kidney, Hypoglycemia	ORPHA:369
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Acute hepatic failure, Elevated hepatic transaminase, Failure to thrive, Atax...	OMIM:203700
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon...	ORPHA:314632
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Trisomy 13	Sensorineural hearing impairment, Optic atrophy, Abnormality of the ureter, Abnormal antihelix mo...	ORPHA:3378
Sotos Syndrome	Ureteral duplication, Tremor, Gastroesophageal reflux, Vesicoureteral reflux, Conductive hearing ...	ORPHA:821
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Immunodeficiency 92	Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope...	OMIM:619652
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Hydroureter, Hydronephrosis, Feeding difficulties	OMIM:618240
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, Neutroph...	ORPHA:3260
Senior-Boichis Syndrome	Diffuse cerebral atrophy, Polydipsia, Thickening of the tubular basement membrane, Aggressive beh...	ORPHA:84081
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:607706
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Type I diabetes mellitus, Sensorineural hearing impairment, Moderate albuminuria, Hydronephrosis	OMIM:619269
Suleiman-El-Hattab Syndrome	Optic disc pallor, Protruding ear, Feeding difficulties, Low-set ears, Overfolded helix, Hydronep...	OMIM:618950
Deafness, Autosomal Dominant 23	Conductive hearing impairment, Sensorineural hearing impairment, Vesicoureteral reflux	OMIM:605192
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Long penis, Insulin-res...	ORPHA:769
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Bowel incontinence, Decreased nerve conduction velocity, Abdominal distenti...	ORPHA:309271
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre...	OMIM:608673
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Neurodegeneration, Spastic paraparesis, Or...	OMIM:615643
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Delayed CNS myelination, EEG with parietal epileptiform discharges, Hypospadias, Proteinuria, Glo...	OMIM:619428
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Crossed fused renal ectopia, Posteriorly rotated ears, Feedin...	OMIM:147920
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
15Q Overgrowth Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Posteriorly rotated ears, Ureteroves...	ORPHA:314585
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive...	ORPHA:505248
Arima Syndrome	Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney disease, Hematuria, Gray matter hete...	OMIM:243910
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Hypercalciuria, Micropenis	OMIM:614732
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:300376
Intermediate Osteopetrosis	Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Hypocalcemia, Abnorma...	ORPHA:210110
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno...	OMIM:605253
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye...	OMIM:162500
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
22Q11.2 Duplication Syndrome	Urethral stenosis, Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperacti...	ORPHA:1727
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Dystonia, Portal hypertension, Rigidity, Splenomegaly, Jaundice, A...	ORPHA:309854
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Pericarditis, Proteinuria, Abnormal subcutaneous fat tissue distributio...	OMIM:212065
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea...	ORPHA:230
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er...	ORPHA:447
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro...	ORPHA:91547
Teebi-Shaltout Syndrome	Ureteral stenosis, Horseshoe kidney, Low-set ears, Hypoplastic helices, Small earlobe, Hydronephr...	OMIM:272950
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Poor appetite, Chronic kidney disease, Abnormal urine potassium...	ORPHA:411634
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Tremor, Diarrhea, Hyperinsulinemia, Renal Fanconi syndrome, Vomiting, Agitation, Fas...	ORPHA:263455
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Feeding difficulties, Oliguria...	ORPHA:97362
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Feeding difficulties, Chronic constipation, Attention deficit hyperact...	OMIM:609757
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Proteinuria, Recurrent myoglobinuria, Tremor, Senso...	OMIM:607426
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ureteral duplication, Renal hypoplasia/aplasia, Microtia, Micr...	ORPHA:1926
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera...	OMIM:218000
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Low-set ears, H...	OMIM:618161
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy	DECIPHER:59
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex...	OMIM:608836
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Renal insufficiency, Hypercalcemia, Myo...	ORPHA:95409
Familial Hyperaldosteronism Type I	Polydipsia, Tinnitus, Nausea	ORPHA:403
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
8Q12 Microduplication Syndrome	Sensorineural hearing impairment, Gastroesophageal reflux, Attention deficit hyperactivity disord...	ORPHA:228399
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent...	ORPHA:45452
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Refractory Anemia	Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate...	ORPHA:98826
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,...	OMIM:105550
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Chromosome 2P16.1-P15 Deletion Syndrome	Posteriorly rotated ears, Optic nerve hypoplasia, Pachygyria, Sensorineural hearing impairment, C...	OMIM:612513
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence, Delayed peripheral myelination, Sensorineural hearing impairment, Cerebral ...	ORPHA:464282
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalcemia, Thro...	OMIM:212750
Adult-Onset Autosomal Dominant Leukodystrophy	Tremor, Intention tremor, Action tremor, Urinary urgency, Constipation, Abnormal autonomic nervou...	ORPHA:99027
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolem...	ORPHA:31824
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609311
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Fanconi-Bickel Syndrome	Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Abdominal distention, Hypercalc...	ORPHA:2088
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Okamoto Syndrome	Urinary incontinence, Unilateral renal hypoplasia, Gastroesophageal reflux, Abnormal helix morpho...	ORPHA:2729
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Orthostatic hypotension, Neurogenic bladder, Hypospadias, Sta...	OMIM:191800
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Ventricular arrhy...	ORPHA:36913
Kleine-Levin Syndrome	Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu...	ORPHA:33543
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:301006
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Mesangial hypercellularity, Sensorineural...	OMIM:617575
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebral cortical atrophy, Brain atroph...	OMIM:620327
Mitochondrial Dna-Associated Leigh Syndrome	Multiple glomerular cysts, Dystonia, Segmental peripheral demyelination/remyelination, Sensorineu...	ORPHA:255210
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Proteinuria, E...	ORPHA:29072
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Chronic noninfectious lymphadenopathy, Neopla...	ORPHA:97289
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis	OMIM:613710
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abdominal distention, Aplasia of the bladder, Microt...	ORPHA:158684
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Athetosis, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyp...	OMIM:618857
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Periventricular heterotopia, Decreased nerve conduction velocity, Senso...	OMIM:618733
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,...	ORPHA:320
Familial Visceral Myopathy	Low-set, posteriorly rotated ears, Hydroureter, Aganglionic megacolon, Abdominal distention, Mega...	ORPHA:2604
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ...	ORPHA:98763
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Machado-Joseph Disease Type 3	Cerebellar atrophy, Abnormal lower motor neuron morphology, Substantia nigra gliosis, Facial-ling...	ORPHA:276244
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig...	OMIM:615491
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Feeding difficulties, Peripheral hypomyelination, Oral-pharyngeal dysphagia	OMIM:616287
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T...	OMIM:603552
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Severe demyelination of the white m...	ORPHA:79282
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Abdominal pain, Non-acidotic proximal tubulo...	ORPHA:1652
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Acute Intermittent Porphyria	Nausea and vomiting, Dark urine, Renal insufficiency, Restlessness, Urinary incontinence, Dysuria...	ORPHA:79276
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Myh9-Related Disease	Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Nephropathy, Nephritis	ORPHA:182050
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Os...	ORPHA:2169
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean pl...	ORPHA:84064
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Vertigo, Allo...	ORPHA:51890
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia	ORPHA:94086
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, C...	OMIM:604168
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Elevated circul...	OMIM:276700
Vici Syndrome	Feeding difficulties in infancy, Sensorineural hearing impairment, Optic atrophy, Ureteral atresi...	ORPHA:1493
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination	ORPHA:99944
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Obesity, Limb dystonia	OMIM:620270
Distal Duplication 6P	Aplasia/Hypoplasia of the earlobes, Renal hypoplasia, Abnormal antitragus morphology, Abnormality...	ORPHA:1745
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive	OMIM:239199
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Slender build, Astrocytosis	OMIM:611087
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Hypospadias, Small for gestational age, Increased mean platel...	OMIM:222470
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Hydroureter, Hypospadias, Renal hypoplasia/aplasia, External e...	ORPHA:568
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ...	ORPHA:324636
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hyperactivity, Hypospadias, Feeding difficulties, Abnormal optic disc morph...	OMIM:617516
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Impulsivity, Sensorineural hearing impair...	OMIM:614116
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Hand tremor, Tetraplegia, Degeneration of anterior horn cells, Gliosis, Fasc...	OMIM:604484
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul...	ORPHA:797
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Donohue Syndrome	Abdominal distention, Long penis, Hyperinsulinemia, Low-set ears, Fasting hypoglycemia, Postprand...	OMIM:246200
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, L...	ORPHA:1304
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd...	OMIM:256300
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:90103
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen...	OMIM:606483
Infantile Myofibromatosis	Hypercalcemia, Abnormality of the kidney, Bone cyst, Osteolysis, Chondrocalcinosis	ORPHA:2591
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces...	OMIM:617006
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of the tonsils, Thrombocyto...	ORPHA:47
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Asplenia, Stillbirth, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardio...	OMIM:615415
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Urinary incontinence, Degeneration of the...	OMIM:604360
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Diabetes mellitus, Oral-pharyngeal...	OMIM:219800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia, Decreased number of peripheral myelin...	OMIM:618184
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph...	OMIM:145001
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Myasthenia Gravis	Glycosuria, Dysphagia, Hearing impairment	ORPHA:589
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephroli...	ORPHA:47159
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical hemiatrophy...	ORPHA:33445
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Alport Syndrome	Mesangial hypercellularity, Vomiting, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depos...	ORPHA:63
Variegate Porphyria	Paralysis	OMIM:176200
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenop...	ORPHA:37748
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Posteriorly rotated ears, Optic nerve hypoplasia, Hypospadias, Feed...	OMIM:301056
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Neuropathy, Hereditary Motor And Sensory, Russe Type	Paralysis	OMIM:605285
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Adamantinoma	Hypercalcemia	ORPHA:55881
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Feeding difficulties	OMIM:614652
Urban-Rogers-Meyer Syndrome	Overfolded helix, Aplasia/Hypoplasia of the earlobes, Abnormality of the ureter, Hypoplasia of penis	ORPHA:3409
Addison Disease	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Failure to thrive, Hypercalcemia, Renal...	ORPHA:85138
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Renal hamartoma, Shortened QT interval, Osteoporosis, Nephrol...	ORPHA:143
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont...	OMIM:619040
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Vomiting, Tics, Otitis media, Leukodystrophy, Compulsive behaviors, Micropenis, A...	OMIM:619475
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, External ear malformation, Feeding difficulties in inf...	ORPHA:912
Machado-Joseph Disease Type 1	Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276241
Metachromatic Leukodystrophy	Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Dystonia, Peripheral de...	OMIM:250100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias, Low-set ears	ORPHA:2522
Wilson Disease	Acute hepatic failure, Limb dystonia, Hyperphosphaturia, Dystonia, Proteinuria, Decreased nerve c...	OMIM:277900
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Aggressive behavior, Sensorineural hearing impairment, Chronic kidney disease, Tubul...	ORPHA:488627
Smith-Magenis Syndrome	Renal hypoplasia/aplasia, Feeding difficulties in infancy, Abnormality of the ureter, Abnormal lo...	ORPHA:819
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thickened glomerular basem...	OMIM:146255
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Cerebral cortical hemiatrophy, Brain a...	ORPHA:306669
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia, Neutropenia	OMIM:616949
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Carnosinuria, Cardiomyopathy	OMIM:309930
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Epistaxis, Chronic neutropenia, Hype...	ORPHA:79259
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a...	ORPHA:1215
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Impaired oropharyngeal swallow response, Onion bulb formation, Acute demyelinating polyneuropathy	ORPHA:98916
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Enamel hypoplasia, Hypocalcemia	ORPHA:557003
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Aredyld Syndrome	Low-set, posteriorly rotated ears, Abnormality of the ureter, Abnormal tragus morphology, Type II...	ORPHA:1133
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:605588
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Lassa Fever	Nausea and vomiting, Abdominal pain, Diarrhea, Oliguria, Dysphagia, Hearing impairment	ORPHA:99824
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Stomatocytosis...	OMIM:185000
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis...	ORPHA:261222
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Dysmetria	OMIM:617917
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu...	ORPHA:98870
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi...	OMIM:612126
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati...	ORPHA:84085
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Hypercalcemia, Renal hamartoma, Shortened QT interval, Osteoporosis, Nephrol...	ORPHA:99880
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Optic atrophy, Choreoathetosis, Large earlobe, ...	ORPHA:2715
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Abdominal pain, Renal interstitial immunoglobulin deposits, Uri...	ORPHA:449395
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Tr...	ORPHA:2590
Systemic Sclerosis	Renal insufficiency, Gastroparesis, Abnormality of the kidney, Bowel incontinence, Proteinuria, G...	ORPHA:90291
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Symmetric peripheral demyelination, Bowel incontinence, Corpus callosum atrophy, Pseudobulbar par...	OMIM:169500
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Bowel incontinence, Aggressive behavior, C...	ORPHA:261494
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E...	ORPHA:90044
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Mixed hearing impairment, Facial palsy, Dilatated internal au...	OMIM:113650
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dystonia	OMIM:617916
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Rabies	Vocal cord paresis, Cerebral palsy	ORPHA:770
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Dystonia	OMIM:250850
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Posteriorly rotated ears, Hypospadias, Tremor, Hearing abnorm...	ORPHA:3455
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Abnormality of thrombocytes, Splenomegaly,...	OMIM:612840
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Low-set ears, Vesicoureteral reflux, Overfolded helix, Hydronephrosis	OMIM:613735
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Diamond-Blackfan Anemia	Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Small for gestational...	ORPHA:124
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Diabetes mellitus, Proteinuria, Sensorineural hearing impairment, Renal artery stenosis, Nephropathy	OMIM:209010
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev...	OMIM:613327
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemi...	OMIM:259700
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polydipsia, Polyuria	OMIM:613677
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Hepatic failure, Cere...	OMIM:616719
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Onion bulb formation, Optic atrophy	OMIM:615035
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney	OMIM:618272
Kury-Isidor Syndrome	Feeding difficulties, Attention deficit hyperactivity disorder, Low-set ears, Recurrent otitis me...	OMIM:619762
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Tetraploidy	Renal hypoplasia/aplasia, Hydronephrosis, Hypoplasia of the ear cartilage	ORPHA:3305
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating...	ORPHA:36234
Ohdo Syndrome	Proteinuria, Feeding difficulties in infancy, Microtia, Stenosis of the external auditory canal, ...	OMIM:249620
Donnai-Barrow Syndrome	Sensorineural hearing impairment, Posteriorly rotated ears, Proteinuria	ORPHA:2143
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis	ORPHA:640
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulatin...	OMIM:618886
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Aggressive behavior, Sensorineural hearing impairment, Gastrointestinal dysmotility, ...	ORPHA:293987
7Q31 Microdeletion Syndrome	Torticollis, Hyperactivity, Nasogastric tube feeding in infancy, Hypoplasia of the cochlea, Enure...	ORPHA:251061
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri...	OMIM:611228
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased cir...	OMIM:601678
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Onion bulb formation, Peripheral demyelination, Axonal regeneration	OMIM:615185
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:162400
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Bradycardia...	OMIM:601005
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion...	OMIM:607684
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Cerebellar atrophy, Decreased distal s...	ORPHA:466768
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Ankle clo...	OMIM:617435
Preeclampsia	Helicobacter pylori infection, Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic ki...	ORPHA:275555
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy...	OMIM:608709
Diarrhea 10, Protein-Losing Enteropathy Type	Polyuria, Secretory diarrhea, Feeding difficulties, Hematochezia, Low-set ears, Renal dysplasia	OMIM:618183
Usher Syndrome Type 1	Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrophy, Vest...	ORPHA:231169
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Abnormal auditory evoked potentia...	OMIM:619260
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Cerebral atrophy, Opisthotonus, Hypsarrhythmia, Low-...	OMIM:269150
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Abdominal pain, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Sensorineural hearing impairment, Urinary excretion of ...	OMIM:256550
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Sensorineural hearing impair...	ORPHA:1307
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Renal hypoplasia/aplasia, Abnormality of the ureter, Microtia,...	ORPHA:1770
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Posteriorly rotated ears, Overfolded helix, Macrotia, Hydronephrosis	ORPHA:2083
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:600882
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Delayed CNS myelina...	OMIM:616881
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Abdominal distention, Hypercalciuria, G...	OMIM:227810
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hyperammonemia, Cardiomyopathy...	ORPHA:79312
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Generalized dystonia, Urinary incontinence, Bowel incontinence, Corpus callos...	ORPHA:171629
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Intracrania...	ORPHA:3226
Hereditary Central Diabetes Insipidus	Diarrhea, Polydipsia, Vomiting	ORPHA:30925
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Orotic acid crystalluria, Abnormality of the ureter, Aminoacid...	ORPHA:30
Cataract 47	Glycosuria	OMIM:612018
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Megacystis, Spast...	OMIM:615112
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Hypoglycemia, Histidinuria, Sensorineural hearing im...	ORPHA:2158
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R...	OMIM:105650
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, G...	OMIM:610185
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Sialuria	Protuberant abdomen, Increased level of N-acetylneuraminic acid in urine, Low-set ears, Attention...	OMIM:269921
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa...	ORPHA:329284
Lead Poisoning	Anorexia, Abdominal pain, Abdominal distention, Chronic kidney disease, Renal tubular dysfunction...	ORPHA:330015
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr...	OMIM:310300
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Congenital Disorder Of Glycosylation, Type Iim	Delayed CNS myelination, Vesicovaginal fistula, Cerebral atrophy, Hypsarrhythmia, Gastroesophagea...	OMIM:300896
Cogan Syndrome	Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia	ORPHA:1467
Trehalase Deficiency	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:103909
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporosis, Lymp...	ORPHA:98849
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Titubation, Increased circulatin...	OMIM:619405
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Ureteral duplication, Renal dysplasia, Posteriorly rotated ears, Ureteral hyp...	OMIM:614080
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Urolithiasis, Nephrolithi...	OMIM:614723
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Joubert Syndrome 37	Micropenis, Posteriorly rotated ears, Hydronephrosis, Low-set ears	OMIM:619185
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de...	OMIM:608340
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating...	ORPHA:26793
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral atrophy, Glios...	OMIM:256600
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Low-set, posteriorly rotated ears, Optic atrophy, Feeding difficulties, Gastroesophageal reflux, ...	ORPHA:457193
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p...	ORPHA:57777
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Abnormal...	OMIM:618347
Distal Triplication 15Q	Abnormality of the kidney, Sensorineural hearing impairment, Cupped ear, Dilatation of the renal ...	ORPHA:314588
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the blad...	ORPHA:2547
Tularemia	Brain abscess, Tachycardia, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy,...	ORPHA:3392
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Tremor, Diarrhea, Optic at...	ORPHA:90321
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Oliguria, S...	ORPHA:731
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Hepatosplenome...	OMIM:612541
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Cockayne Syndrome Type 3	Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Abnormal myelination, Un...	ORPHA:90324
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Otopalatodigital Syndrome Type 2	Hypospadias, Abnormal pinna morphology, Hydronephrosis, Low-set ears, Ureteral obstruction, Heari...	ORPHA:90652
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Abdominal pain, Abdominal distention, Diarrhea, Hem...	ORPHA:93552
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a...	ORPHA:284426
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity	ORPHA:803
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aganglionic megacolon, Hypospadias, Epispadias, Abnormality of the ear...	ORPHA:3339
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar atrophy, Renal insufficiency, Posteriorly rotated ears, Hypospadias, Feeding difficult...	OMIM:611209
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Knee flexion contr...	OMIM:156400
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Sensorineu...	ORPHA:36412
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Tremor, Neur...	ORPHA:206443
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Low-set ears, Polycystic kidney dysplasia...	ORPHA:261290
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia, Abdominal distention, Sensorineural hearing impairment, Feeding difficulties, Gastr...	OMIM:620275
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin...	ORPHA:567548
Spinocerebellar Ataxia Type 43	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Cereb...	ORPHA:497764
Helix Syndrome	Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia	OMIM:617671
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Congestive heart failure, Decreased plasma free ca...	OMIM:619048
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon...	ORPHA:94090
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti...	ORPHA:486
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Abdominal distention, Renal hypoplasia, Ureteral agene...	OMIM:617666
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Hydronephrosis	OMIM:235760
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici...	OMIM:301074
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,...	OMIM:616026
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Hypomagnesemia, Noct...	OMIM:223360
Familial Renal Glucosuria	Recurrent urinary tract infections, Insulin resistance, Renal tubular dysfunction, Enuresis, Glyc...	ORPHA:69076
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Micro Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Pachygyria, Optic atrophy, Abnormal local...	ORPHA:2510
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria, Acute kidney injury	ORPHA:54057
Mody	Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin-resistant diabetes melli...	ORPHA:552
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei...	OMIM:617099
Prune Belly Syndrome	Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal insufficiency, Hydrourete...	ORPHA:2970
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Abdominal colic, Proteinuria, Recurrent urinary tract infections, Dysuria, C...	ORPHA:976
Galloway-Mowat Syndrome	Proteinuria, Pachygyria, Abnormality of neuronal migration, Nephrotic syndrome, EEG abnormality, ...	ORPHA:2065
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Optic nerve hypoplasia, Facial palsy, Optic atrophy, Protruding ear...	ORPHA:261349
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Nausea and vomiting, Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacol...	ORPHA:847
Toluene Embryopathy	Abnormal localization of kidney, Hydronephrosis, Low-set ears, Protruding ear	ORPHA:1920
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia,...	ORPHA:89937
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenom...	OMIM:259720
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Low-set ears, Micropenis, Hepatic failure, Hydronephrosis	OMIM:235255
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Ureteral agenesis, Congenital megaureter, Abnormality of the u...	ORPHA:2437
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In...	OMIM:604250
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Diffuse mesangial sclerosis, Delayed CNS myelination, Proteinuria, Stage 5 ch...	OMIM:619609
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Microtia, Multiple bladder diverticula, Recurrent otitis media, Abnormality of the o...	ORPHA:2728
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, EEG with generalized slow activity	ORPHA:2386
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Abdominal distention, Sensorineural hearing impairment, Megacystis, Pyelonephritis, Fetal...	OMIM:619351
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
X-Linked Intellectual Disability Due To Gria3 Mutations	Uplifted earlobe, Aggressive behavior, Hydronephrosis, Micropenis, Macrotia, Self-mutilation	ORPHA:364028
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Congenital sensorineural hearing impairment, Sensorineural hearing impairmen...	OMIM:619147
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Developmental Delay With Or Without Dysmorphic Facies And Autism	Delayed CNS myelination, Posteriorly rotated ears, Optic disc coloboma, Renal hypoplasia, Renal c...	OMIM:618454
Craniofacial Microsomia 1	Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney,...	OMIM:164210
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria, Low-set ears	OMIM:616901
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Bradycardia, Mildly elevated creatine kinase	OMIM:620265
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Delayed CNS myelination, Diabetes mellitus, EEG with burst suppression, Optic atrophy, Simplified...	OMIM:614231
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Diabetes mellitus, Sensorineural hearing impairment, Feeding diffic...	ORPHA:541423
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Hypertension, Focal seg...	OMIM:232200
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Neurogenic bladder, Hypoglycemia, Sensorineural hearing impairment, Delayed m...	OMIM:608779
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Impaired glucose tolerance, Polyuria, Diarrhea, Insulin resistance, Feed...	OMIM:606721
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:98856
Tetrasomy 15Q26	Cupped ear, Hydronephrosis, Low-set ears, Horseshoe kidney	OMIM:614846
Interstitial Lung And Liver Disease	Hepatomegaly, Hyperammonemia, Aminoaciduria, Thrombocytosis, Failure to thrive, Anemia	OMIM:615486
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607731
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Melnick-Needles Syndrome	Recurrent otitis media, Ureteral stenosis, Macrotia, Hydronephrosis	OMIM:309350
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Spinocerebellar atrophy, Head tremor, Cochlear degeneration, Hearing impairment	ORPHA:95433
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Poor appetite, Xanthi...	ORPHA:3467
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg...	OMIM:619365
Toxic Epidermal Necrolysis	Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Renal insufficiency, Dys...	ORPHA:537
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration	OMIM:607677
Mesomelia-Synostoses Syndrome	Hydronephrosis, Hearing impairment	ORPHA:2496
Congenital Pancreatic Cyst	Abdominal distention, Vomiting, Anorexia, Abdominal pain	ORPHA:313906
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Nausea and vomiting, Delayed CNS myelination, Tremor, Feeding difficulties, Renal tubular dysfunc...	OMIM:616539
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellitus, Renal hypoplasia/aplasia, C...	ORPHA:261265
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Cerebral atrophy	OMIM:618637
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Primary Intestinal Lymphangiectasia	Abnormal lymphatic vessel morphology, Weight loss, Reduced proportion of CD4+ effector memory T c...	ORPHA:90362
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Protuberant abdomen, Low-set ears, Polym...	OMIM:608022
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Carpenter Syndrome 1	Hydroureter, Abnormal pinna morphology, Sensorineural hearing impairment, Optic atrophy, Cerebral...	OMIM:201000
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi...	ORPHA:563
Erdheim-Chester Disease	Nausea and vomiting, Renal insufficiency, Dysuria, Abdominal pain, Polydipsia, Hydronephrosis	ORPHA:35687
Acute Monoblastic/Monocytic Leukemia	Progressive hearing impairment, Oliguria, Anorexia	ORPHA:514
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia	ORPHA:95626
Necrotizing Enterocolitis	Hyponatremia, Shock, Small for gestational age, Leukocytosis, Bradycardia, Hypotension, Neutropen...	ORPHA:391673
Koolen-De Vries Syndrome	Ureteral duplication, Overfriendliness, Hypospadias, Feeding difficulties in infancy, Protruding ...	ORPHA:96169
Branchioskeletogenital Syndrome	Attached earlobe, Mixed hearing impairment, Ureteral stenosis, Large earlobe, Micropenis, Bladder...	ORPHA:1299
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Sensorineural hearing...	OMIM:301050
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Portal hypertension, Asplenia, Splenomegaly, Ureteral atresia,...	OMIM:208540
Melnick-Needles Syndrome	Vesicoureteral reflux, Hydronephrosis, Hearing impairment	ORPHA:2484
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Proteinuria, Hypoperistalsis, Sensorineural hearing impairment, Chronic kidney disease...	ORPHA:1018
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydronephrosis, Low-set ears	OMIM:220210
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Pelizaeus-Merzbacher Disease	Generalized dystonia, Reduction of oligodendroglia, Writer's cramp, Ataxia, Tremor, Head titubati...	OMIM:312080
Liver Failure, Infantile, Transient	Acute hepatic failure, 3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Feeding difficultie...	OMIM:613070
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia	OMIM:618387
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas...	ORPHA:309246
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Frequent falls	OMIM:159950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abdominal distention, Abnormal renal morphology, Low-set ears, Micropenis, Hepatic failure, Hydro...	ORPHA:1655
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inad...	ORPHA:231222
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea...	ORPHA:54251
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,...	ORPHA:1170
Amyloidosis, Familial Visceral	Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria	OMIM:105200
Frontometaphyseal Dysplasia	Mixed hearing impairment, Sensorineural hearing impairment, Urethral stenosis, Hydronephrosis, Co...	ORPHA:1826
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:615376
Mucopolysaccharidosis Type 3	Otitis media, Thickened helices, Conductive hearing impairment, Chronic otitis media, Hyperactivi...	ORPHA:581
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl...	OMIM:192350
Pfeiffer Syndrome Type 3	Horseshoe kidney, Low-set ears, Vesicoureteral reflux, Stenosis of the external auditory canal, H...	ORPHA:93260
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Hypercalciuria, Renal cyst, Ob...	ORPHA:369837
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr...	OMIM:617718
Tarp Syndrome	Posteriorly rotated ears, Optic atrophy, Horseshoe kidney, Prominent antihelix, Athetosis, Microt...	OMIM:311900
Monosomy 13Q34	Epistaxis, Hypercalcemia, Fetal pyelectasis, Obesity, Hematochezia, Pulmonic stenosis	ORPHA:96168
Juvenile Temporal Arteritis	Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia	ORPHA:26137
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Trisomy 10P	Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit...	ORPHA:171929
Familial Isolated Hypoparathyroidism	Nephropathy, Arrhythmia, Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Rigidity, Tremor, Dysmetria, Gait ataxia	OMIM:618090
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Renal...	ORPHA:1297
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
3C Syndrome	Hypoplasia of penis, Hypospadias, Feeding difficulties in infancy, Optic atrophy, Abnormality of ...	ORPHA:7
X-Linked Dominant Chondrodysplasia Punctata	Abnormal pinna morphology, Sensorineural hearing impairment, Low-set ears, Hydronephrosis, Neonat...	ORPHA:35173
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Elevated circulating creatinine concentration, Neph...	OMIM:179800
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Zaki Syndrome	Cupped ear, Renal agenesis, Hydronephrosis, Poor appetite	OMIM:619648
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Hurler Syndrome	Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Abnormal CNS myelination...	OMIM:607014
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Generalized osteosclerosis, Hypocalcemia, Anemia	ORPHA:53
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Feeding difficulties in infancy, Chronic diarrhea, Optic atr...	OMIM:617140
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Mosaic Trisomy 8	Abnormal pinna morphology, Protruding ear, Abnormal antihelix morphology, Vesicoureteral reflux, ...	ORPHA:96061
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarr...	ORPHA:330001
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Cockayne Syndrome A	Cerebellar atrophy, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditor...	OMIM:216400
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing impairment, S...	OMIM:616367
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Feeding difficulties in infancy, Cystathioninuria, Hemolytic-ur...	OMIM:277400
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Lymphoid Interstitial Pneumonia	Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Weight loss, Pulmonary venous hype...	ORPHA:79128
Glutaric Acidemia I	Ketonuria, Hypoglycemia, Glutaric aciduria, Delayed myelination, Opisthotonus, Choreoathetosis, S...	OMIM:231670
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Urethral stricture, Abdominal distention, Urinary bladder inflammation, Hydr...	ORPHA:79403
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con...	ORPHA:90051
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Abnormal pinna morphology, Decreased nerv...	ORPHA:477817
Pediatric-Onset Graves Disease	Nausea and vomiting, Hyperactivity, Tremor, Diarrhea, Polydipsia, Polyphagia	ORPHA:525731
Cockayne Syndrome B	Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,...	OMIM:133540
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Dystonia, Hypoglycemia, Tremor, Simplified gyral pattern, Feeding difficu...	OMIM:220111
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia, Low-set ears	OMIM:191830
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Trigeminal Neuralgia	Cranial nerve compression, Feeding difficulties, Allodynia, CNS demyelination, Peripheral demyeli...	ORPHA:221091
Trisomy 20P	Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the kidney, Abnormality of the ure...	ORPHA:261318
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Osteopenia, Increased serum beta-hexosaminid...	OMIM:252500
Genitopatellar Syndrome	Multicystic kidney dysplasia, Feeding difficulties, Gastroesophageal reflux, Low-set ears, Hydron...	ORPHA:85201
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Diffuse cerebral atrophy, Spastic tetrapar...	ORPHA:391428
Trisomy 1Q	Multicystic kidney dysplasia, Congenital megaureter, Low-set ears, Abnormality of the outer ear, ...	ORPHA:261344
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys...	ORPHA:70594
Noonan Syndrome 4	Ureteral duplication, Posteriorly rotated ears, Low-set ears, Thickened helices, Hydronephrosis	OMIM:610733
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Bruxism, Gray matter heterotop...	ORPHA:453499
Congenital Disorder Of Glycosylation, Type Ih	Abdominal distention, Diarrhea, Vomiting, Decreased liver function, Low-set ears	OMIM:608104
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Polyuria	OMIM:300971
Glioblastoma	Glioblastoma multiforme, Paralysis	ORPHA:360
Mucopolysaccharidosis, Type Vii	Heparan sulfate excretion in urine, Sensorineural hearing impairment, Dermatan sulfate excretion ...	OMIM:253220
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h...	OMIM:616299
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Tremor, Chronic constipation, Pontocerebellar atrophy, Hydronephrosis	OMIM:618060
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Diarrhea, Vestibu...	ORPHA:3240
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Babinski sign, Vocal cord paralysis, Hand tremor, Poor fine motor coordination, ...	ORPHA:99947
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Duane-Radial Ray Syndrome	Renal malrotation, Aganglionic megacolon, Facial palsy, Renal agenesis, Sensorineural hearing imp...	OMIM:607323
Hsd10 Disease	Ataxia, Tremor, Rigidity, Frontotemporal cerebral atrophy, Choreoathetosis, Myoclonus, Spastic pa...	ORPHA:391417
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:609057
Melas	Peripheral axonal neuropathy, Diabetes mellitus, Intestinal pseudo-obstruction, Proteinuria, Sens...	ORPHA:550
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Osteolysis, Sclerosis of skull base, Osteosclerosis of the ulna, Hydroxyprolinuria	OMIM:602080
Takenouchi-Kosaki Syndrome	Cerebellar atrophy, Posteriorly rotated ears, Hypospadias, Unilateral renal agenesis, Sensorineur...	OMIM:616737
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Posteriorly rotated ears, Large fleshy ears, Low-set ears, Micropenis, Hydronephrosis	OMIM:616897
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Cardiac arrest, Eosinophilia, Myocarditis, Lymphadenopathy, Weight loss, Tub...	ORPHA:139402
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Developmental And Epileptic Encephalopathy 46	Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia	OMIM:617162
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Hypospadias, Renal agenesis, Abnormal repetitive mannerisms, Sensorineu...	OMIM:301040
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Proteinuria, Abdominal pain, Secretory diarrhea, Grade II vesi...	OMIM:619377
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Hypoglycemia, Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Optic atrop...	OMIM:616878
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Abdominal pain, Abdominal diste...	ORPHA:160
Schimke Immuno-Osseous Dysplasia	Proteinuria, Minimal change glomerulonephritis, Abdominal distention, Stage 5 chronic kidney dise...	ORPHA:1830
Johanson-Blizzard Syndrome	Hypoplasia of penis, Diabetes mellitus, Hypospadias, Sensorineural hearing impairment, Hydronephr...	ORPHA:2315
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia,...	ORPHA:35858
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertens...	OMIM:617913
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercalcemia, Elevate...	ORPHA:653
Glutathionuria	Tremor, Reduced gamma-glutamyltransferase level, Dysdiadochokinesis, Action tremor	OMIM:231950
Hyperphosphatasia-Intellectual Disability Syndrome	EEG with polyspike wave complexes, Aganglionic megacolon, Cupped ear, Thickened helices, Cerebral...	ORPHA:247262
Pearson Syndrome	Renal insufficiency, Diabetes mellitus, Proteinuria, Chronic diarrhea, Lacticaciduria, Renal cyst...	ORPHA:699
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Low-set ears, Multinucleated neuron, Renal dyspl...	OMIM:236500
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormal lymph node morphology, Hyperuric...	ORPHA:543
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Abcd Syndrome	Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ...	OMIM:600501
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Codas Syndrome	Crumpled ear, Overfolded helix, Hydroureter, Sensorineural hearing impairment	ORPHA:1458
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:270550
Cardiofaciocutaneous Syndrome 1	Peripheral axonal neuropathy, Posteriorly rotated ears, Gastrostomy tube feeding in infancy, Feed...	OMIM:115150
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Sensorineural hearing impairment...	ORPHA:391641
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine ...	OMIM:613280
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:614831
Musculocontractural Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, External ear malformation, Functional abnormality of the bladd...	ORPHA:2953
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Joint contracture, Elevated circulating creatine kinase concentration	OMIM:615351
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia, Hypertrophic c...	OMIM:618815
Cln3 Disease	Vacuolated lymphocytes, T-wave inversion, Bradycardia, Left ventricular hypertrophy, Urinary blad...	ORPHA:228346
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sensorineural hearing impairment, Renal hypoplasia, Renal cyst, Feeding dif...	OMIM:618460
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Lymph node hypoplasia, Ab...	ORPHA:276
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hypoglycemia, Sensorineural hearing impairment, Decreased liver fun...	OMIM:617093
Donnai-Barrow Syndrome	Posteriorly rotated ears, Proteinuria, Non-acidotic proximal tubulopathy, Sensorineural hearing i...	OMIM:222448
Marchiafava-Bignami Disease	Facial palsy, Urinary incontinence, Aggressive behavior, Vertigo, Malnutrition, Vomiting, Addicti...	ORPHA:221074
Diamond-Blackfan Anemia 6	Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ...	OMIM:612561
Baller-Gerold Syndrome	Abnormality of the ureter, Vesicoureteral reflux, Abnormal localization of kidney, Conductive hea...	ORPHA:1225
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c...	ORPHA:228360
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Constipation, Low-set ears, Dysphagia, Hydronephrosis	ORPHA:101000
Meckel Syndrome 14	Abdominal distention, Protuberant abdomen, Polycystic kidney dysplasia, Low-set ears	OMIM:619879
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho...	ORPHA:254881
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Decreased l...	OMIM:614863
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Bowel incontinence, Ectopic kidney, Ma...	ORPHA:3027
2P21 Microdeletion Syndrome	Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria	ORPHA:163693
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Sensorineural hearing impairment, Hyperur...	ORPHA:411536
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Hypospadias, Unilateral renal ag...	ORPHA:96121
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hype...	OMIM:251000
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Bone cyst, Nephrolithiasis, Osteolysis, Abnormal adipose tissue morphology, Hypocal...	ORPHA:93160
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Uplifted earlobe, Cerebral atrophy, Constipation, Gastroesophageal reflux, Low-set e...	OMIM:616449
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas...	OMIM:612438
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,...	OMIM:168600
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Cerebral atrophy, Gait ataxia, Choreoa...	OMIM:618877
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Thrombocytopenia	OMIM:615010
Wagro Syndrome	Proteinuria, Aggressive behavior, Agitation, Compulsive behaviors, Low-set ears, Nephroblastoma, ...	OMIM:612469
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Renal tubular acidosis, Sensorineural hearing impairment, Nephrolithiasis	OMIM:267300
Anti-Glomerular Basement Membrane Disease	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:375
Penoscrotal Transposition	Renal dysplasia, Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transpositi...	ORPHA:2842
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Diaphyseal sclerosis, Hyperpho...	ORPHA:94089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618235
Fibrous Dysplasia Of Bone	Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Osteolysi...	ORPHA:249
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Ectopic kidney, Sensorineural hearing impairment, Vesicoureteral reflux, Horseshoe...	OMIM:235510
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,...	ORPHA:37042
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the upper urinary tract, Abdo...	ORPHA:873
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh...	OMIM:137440
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem...	OMIM:300957
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Fast...	OMIM:180860
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop...	OMIM:613839
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Unilateral renal agenesis, Subperiosteal bone formation, Splenic cys...	OMIM:618188
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Intellectual Disability, Buenos-Aires Type	Macrotia, Hydronephrosis	ORPHA:3079
Tangier Disease	Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination	OMIM:205400
Xfe Progeroid Syndrome	Proteinuria, Renal insufficiency, Optic atrophy, Hearing impairment	OMIM:610965
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B...	OMIM:127550
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria, Hearing impairment	ORPHA:86818
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Hypoplasia of penis, Dilated cardiomyopathy, Hypochromic microcytic anemia...	ORPHA:66634
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Anteverted ears, Vesicoureteral reflux, Thickened helices, Micropenis, Renal hypo...	OMIM:617641
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Pachygyria, Op...	OMIM:251300
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Hy...	OMIM:616505
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea	ORPHA:103907
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Posteriorly rotated ears, Abnormal cortical gyration, Feeding difficulties, Hydronephrosis, Low-s...	OMIM:300968
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertroph...	OMIM:614702
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Moderate albuminuria, Gastroesophageal reflux, Vomiting...	OMIM:619525
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Decr...	OMIM:607250
Cat Eye Syndrome	Renal agenesis, Horseshoe kidney, Low-set ears, Vesicoureteral reflux, Stenosis of the external a...	OMIM:115470
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Lymphocyto...	ORPHA:79456
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Decreased liver function, Oculomotor apraxia	OMIM:614867
Vipoma	Hepatomegaly, Hypercalcemia, Weight loss, Hematochezia, Hypokalemia, Normochromic anemia, Subcuta...	ORPHA:97282
Brain-Lung-Thyroid Syndrome	Hyperactivity, Hypospadias, Abnormal eating behavior, Sensorineural hearing impairment, Megacysti...	ORPHA:209905
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	EEG abnormality, Macrotia, Abnormality of the ureter, Protruding ear	ORPHA:3253
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia	OMIM:244460
Hypophosphatemic Rickets And Hyperparathyroidism	Hypercalcemia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:612089
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Distal Deletion 10Q	Aggressive behavior, Congenital sensorineural hearing impairment, Functional abnormality of the b...	ORPHA:96148
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed CNS myelination, Micropenis, Feeding difficulties, Low-set ears, Vesicoureteral reflux, O...	OMIM:618653
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Peripheral axonal neuropathy, Hypospadias, Sensorineural hearing impairment,...	OMIM:300661
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Chorea, Babinski sign, Cerebral atrophy, Dysmetria, Gait ataxia, Bradykinesia...	OMIM:610217
Monosomy 22Q13.3	Nausea and vomiting, Renal dysplasia, Hyperactivity, Hearing impairment, Hair-pulling, Feeding di...	ORPHA:48652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Cerebellar atrophy, Hydroureter, Abnormal renal collecting system morphology, Feeding difficultie...	ORPHA:280633
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Splenomegaly, Thrombocytopenia, C...	ORPHA:47612
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:2785
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Exaggerated startle response, Feeding difficulties, Urinary glycosamino...	ORPHA:79255
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Renal insufficiency, Proteinuria, Abdominal pain	OMIM:134610
Fabry Disease	Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Tenesmus, Urinary mulberry cells, Vom...	OMIM:301500
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Acanthocytosis, Weight loss, Normochrom...	ORPHA:97280
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Hypochromic microcytic anemia, Weight l...	ORPHA:97283
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Posteriorl...	ORPHA:2461
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spast...	OMIM:616795
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor ...	OMIM:617013
Whipple Disease	Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Insulin resistance, Polydipsia	ORPHA:3452
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac ...	OMIM:212138
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct...	ORPHA:206436
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Hypospadias, Unilateral renal agenesis, Abnormality of neuronal migration, Ren...	ORPHA:464311
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ata...	OMIM:210000
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Iron def...	ORPHA:1667
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Delayed CNS myelination, Feeding difficulties, Gastroesophageal ref...	OMIM:620114
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con...	OMIM:618775
Hereditary Amyloidosis With Primary Renal Involvement	Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Renal insufficiency, Proteinuria,...	ORPHA:85450
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Cerebral atrophy, M...	ORPHA:442835
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Axonal degeneration, Limb ataxia, Gait atax...	OMIM:208920
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Hyperactivity, Impulsivity, Anteverted ears, Feeding difficul...	OMIM:610443
Microvillus Inclusion Disease	Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology	ORPHA:2290
Alagille Syndrome	Nephrotic syndrome, Renal hypoplasia/aplasia, Abnormality of the ureter, Protruding ear	ORPHA:52
Athyreosis	Abdominal distention, Constipation, Feeding difficulties	ORPHA:95713
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Paroxysmal dystonia, Abnormal circulating enzyme concentration or activity, Babin...	ORPHA:79244
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Ddost-Cdg	Tremor, CNS hypomyelination, Constipation, Gastroesophageal reflux, Nephrotic range proteinuria	ORPHA:300536
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V...	ORPHA:116
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chronic diarrhea,...	OMIM:619858
Intellectual Developmental Disorder, Autosomal Dominant 53	Gastrointestinal dysmotility, EEG abnormality, Microtia, Micropenis, Hydronephrosis	OMIM:617798
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Abnormality of the ureter, Hypospadias	ORPHA:2311
15q26 overgrowth syndrome	Abnormal pinna morphology, Abnormality of the kidney, Renal agenesis, Sensorineural hearing impai...	DECIPHER:81
Agel Amyloidosis	Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Orthostatic hypotension due to autonom...	ORPHA:85448
Peho Syndrome	Cerebellar atrophy, Feeding difficulties in infancy, Pachygyria, Optic atrophy, Hypsarrhythmia, P...	OMIM:260565
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Delayed CNS myelination, Op...	OMIM:619487
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Ogden Syndrome	Global glomerulosclerosis, Inguinal hernia, Polycythemia, Cardiomegaly, Ventricular tachycardia, ...	OMIM:300855
Progressive Supranuclear Palsy	Tremor, Rigidity, Blepharospasm, Bradykinesia, Gliosis, Dystonia, Neuronal loss in central nervou...	ORPHA:683
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria	OMIM:145980
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Failure to thrive, Babinski sign, Spastic paraplegia	ORPHA:477673
Au-Kline Syndrome	Sensorineural hearing impairment, Chronic kidney disease, Dilatation of the renal pelvis, Feeding...	OMIM:616580
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607831
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias...	ORPHA:887
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Sensorineural hearing impairment, Hydronephrosis, Attention deficit hypera...	ORPHA:250989
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spastici...	OMIM:607694
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Horseshoe kidney, Increased mean corpuscular volume,...	OMIM:612562
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia, Pulmonary...	ORPHA:238459
Leprechaunism	Abdominal distention, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Protrudin...	ORPHA:508
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Abdomin...	ORPHA:656
Fryns Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadi...	ORPHA:2059
Japanese Encephalitis	Neutrophilia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Paucity of anter...	ORPHA:79139
Floating-Harbor Syndrome	Renal cyst, Nephrocalcinosis, Gastroesophageal reflux, Compulsive behaviors, Conductive hearing i...	ORPHA:2044
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Hypochromic anemia, Thrombocytosis, Failure to thrive	OMIM:618213
Free Sialic Acid Storage Disease	Nephrotic syndrome, Athetosis, Proteinuria	ORPHA:834
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperph...	ORPHA:428
Qazi-Markouizos Syndrome	Chronic constipation, Torticollis, Abdominal distention, EEG abnormality	ORPHA:3010
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Chordee, Low-set ears, Microp...	OMIM:300519
Fabry Disease	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Abnormal renal tubule morphology, Prote...	ORPHA:324
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Craniosynostosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kinase concentration, H...	ORPHA:466650
Gracile Bone Dysplasia	Failure to thrive, Asplenia, Micropenis, Hypocalcemia, Hypoplastic spleen, Decreased skull ossifi...	OMIM:602361
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den...	OMIM:617052
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Polycystic ki...	ORPHA:2237
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a...	ORPHA:97214
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Elevated circulating alkaline phosphatase con...	ORPHA:529665
Insulin-Resistance Syndrome Type B	Proteinuria, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, H...	ORPHA:2298
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Cer...	OMIM:617729
Hereditary Fructose Intolerance	Renal insufficiency, Abdominal pain, Reactive hypoglycemia, Abdominal distention, Diarrhea, Chron...	ORPHA:469
Schinzel-Giedion Syndrome	Abnormality of the stapes, Aganglionic megacolon, Hypospadias, Abnormality of the ureter, Nephrol...	ORPHA:798
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Abnormality of the upper urinary tract, Polymicrogyria, Optic disc coloboma, Macrogy...	ORPHA:2995
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, Hydronephrosis, Low-set ears	OMIM:104350
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili...	OMIM:300908
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Abnormal incisura morphology, Ectopic kidney, Sensorineural hearing imp...	OMIM:122470
Snakebite Envenomation	Pseudobulbar paralysis, Respiratory paralysis, Thrombocytopenia, Paralysis	ORPHA:449285
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Gliosis, Neurodegenerati...	OMIM:214150
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, He...	ORPHA:90060
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnor...	ORPHA:289494
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Familial Cervical Artery Dissection	Paralysis	ORPHA:36382
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pinna morphology, Hydronephrosis, Hearing impairment	OMIM:302960
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h...	ORPHA:31826
Charge Syndrome	Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, F...	ORPHA:138
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait a...	OMIM:618321
Thyroid Hemiagenesis	Abdominal distention, Constipation	ORPHA:95719
Frontometaphyseal Dysplasia 1	Sensorineural hearing impairment, Hydroureter, Hydronephrosis, Hearing impairment	OMIM:305620
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Hypospadias, Unilateral renal agenesis, Renal cyst, Protruding ...	ORPHA:464306
Tarp Syndrome	Low-set, posteriorly rotated ears, Optic atrophy, Horseshoe kidney, Prominent antihelix, Abnormal...	ORPHA:2886
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo...	ORPHA:173
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Weight loss, Hypotension,...	ORPHA:188
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Sensorineural hearing impairment, Hyperuricosuria, Uric acid n...	ORPHA:411543
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
8P Inverted Duplication/Deletion Syndrome	Impulsivity, Abnormality of the urinary system, Attention deficit hyperactivity disorder, Micrope...	ORPHA:96092
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, External ear malformation, Sensorineural hearing impairmen...	ORPHA:1896
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Dicarboxylic aciduria, I...	ORPHA:71212
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Lymphadenop...	ORPHA:520
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Neonatal hyperbi...	ORPHA:95717
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting	OMIM:619445
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Low-set ears	ORPHA:85166
Glutamine Deficiency, Congenital	Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly, Neonatal death	OMIM:610015
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Resting tremor, Abnormal auditory evoked potentials, Optic...	ORPHA:909
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Achil...	OMIM:310200
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:99948
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom...	OMIM:615745
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea...	ORPHA:1451
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnormality of the ureter, G...	ORPHA:2869
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Tremor, Babinski sign, Slurred speech, Cerebral atrophy, Clum...	ORPHA:137898
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Sparse bon...	OMIM:264700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Hydronephrosis	OMIM:619362
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Prune Belly Syndrome	Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections, Gastrojejunal tube feedin...	OMIM:619218
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass...	ORPHA:79102
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Hydronephrosis, Low-set ears, Vesicoureteral reflux, Cros...	OMIM:300707
White-Kernohan Syndrome	Hydroureter, Horseshoe kidney, Gastroesophageal reflux, Low-set ears, Attention deficit hyperacti...	OMIM:619426
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Feeding difficulties in infancy, Abnormal auditory evoked potentials, Hearing...	OMIM:193700
Microcephaly 26, Primary, Autosomal Dominant	Simplified gyral pattern, Feeding difficulties, Chronic constipation, Pachygyria, Hydronephrosis,...	OMIM:619179
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Ureteral duplication, Aggressive behavior, Hand tremor, Duplication of renal pelvis, Inappropriat...	ORPHA:457212
Webb-Dattani Syndrome	Neurogenic bladder, Delayed CNS myelination, Hyposthenuria, Gastroesophageal reflux, Vesicoureter...	OMIM:615926
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Dystonia, Spasticity	ORPHA:542310
Congenital Enterovirus Infection	Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, Hyperammonemia, Card...	ORPHA:292
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Cerebral atrop...	OMIM:617710
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os...	ORPHA:93324
Campomelic Dysplasia	Hydronephrosis, Low-set ears, Hearing impairment	ORPHA:140
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Simplified gyral pattern, Microlissencephaly, Ureteral ...	OMIM:617914
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gastroparesis, Optic nerve hypoplasia, Intestinal pseudo-obstruction, Feeding difficulties in inf...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gastroparesis, Optic nerve hypoplasia, Intestinal pseudo-obstruction, Feeding difficulties in inf...	ORPHA:352665
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Brain atrophy	OMIM:619092
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Abdominal ...	OMIM:229600
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Failure to thrive, Right ventricula...	ORPHA:1329
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Failure to thrive, Hypercalcemia	ORPHA:476126
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with...	OMIM:607060
Opsismodysplasia	Renal phosphate wasting, Protuberant abdomen, Posteriorly rotated ears, Low-set ears	OMIM:258480
Ataxia-Telangiectasia	Elevated hepatic transaminase, Failure to thrive, Ataxia, Tremor, Spasticity, Lymphopenia	ORPHA:100
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Sensorineural hearing impairment, Renal hypoplasia, Incomplete partition o...	OMIM:617660
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Feeding difficulties in infancy, Optic atrophy, Functional abn...	ORPHA:1340
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Abdominal pain, Renal hypoplasia/aplasia, Ho...	ORPHA:2092
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia	ORPHA:98764
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Pelvis-Shoulder Dysplasia	Microtia, Abnormal pinna morphology, Hydronephrosis	ORPHA:2839
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Feeding difficulties	OMIM:617219
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Inguinal hernia, Chronic ...	ORPHA:500095
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Secondary Short Bowel Syndrome	Aganglionic megacolon, Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition...	ORPHA:95427
Raine Syndrome	Mixed hearing impairment, Hydroureter, Abnormal pinna morphology, Posteriorly rotated ears, Protr...	OMIM:259775
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Sensorineural hearing impairment, Hematuria...	OMIM:161200
Distal Deletion 12Q	Hyperactivity, Diabetes mellitus, Maturity-onset diabetes of the young, Ectopic kidney, Prominent...	ORPHA:96149
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Hematemesis, Shortened QT interval, Nephrolithiasis, Thymoma, Hypercalciuria, Mele...	ORPHA:652
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Feeding difficulties	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Feeding difficulties	ORPHA:529799
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Telangiectasia of the skin, Abnormality of the lymphatic system, Multiple lipomas, N...	ORPHA:276280
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,...	OMIM:600081
Cousin Syndrome	Posteriorly rotated ears, Low-set ears, Stenosis of the external auditory canal, Microtia, first ...	OMIM:260660
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tre...	OMIM:254900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Di...	OMIM:615895
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Hypospadias, Protuberant abdomen, Polymicrogyria, Neonatal hypoglycemia	ORPHA:457485
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen, Low-set ears	OMIM:617102
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis	ORPHA:43
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Tor...	OMIM:128100
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:618348
Double Outlet Right Ventricle	Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Failure to thrive, Aplasia/Hypoplasia...	ORPHA:3426
Spastic Paraplegia 9B, Autosomal Recessive	Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar par...	OMIM:616586
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial i...	ORPHA:904
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH ad...	OMIM:612462
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Mirizzi Syndrome	Dark urine, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea	ORPHA:521219
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Bradycardia	OMIM:614654
Meckel Syndrome 12	Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Low-set ears	OMIM:616258
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Stromme Syndrome	Hydronephrosis, Bilateral renal hypoplasia, Optic nerve hypoplasia, Low-set ears	OMIM:243605
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Abdominal disten...	ORPHA:2241
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Primary Effusion Lymphoma	Abdominal distention, Abdominal pain	ORPHA:48686
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Hypotonia-Cystinuria Syndrome	Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cystine crystalluria	OMIM:606407
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom...	OMIM:277410
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segme...	OMIM:242900
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Cockayne Syndrome	Urinary incontinence, Feeding difficulties in infancy, Gastroesophageal reflux, Gliosis, Intentio...	ORPHA:191
Volvulus Of Midgut	Abdominal distention, Constipation, Neonatal intestinal obstruction	OMIM:193250
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Gliosis, Neurodegeneration, Spasticity, Neuronal loss in central nervous system	OMIM:616239
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Myocarditis, Leukocytosis, Thrombocytopeni...	ORPHA:544482
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Aggressive behavior, Cerebral atrophy, Constipation, Male urethral meatus stenosis, ...	ORPHA:464738
Alternating Hemiplegia Of Childhood	Dystonia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Abdominal distention, Gastrointestinal dys...	ORPHA:2131
Hypokalemic Tubulopathy And Deafness	Sensorineural hearing impairment, Renal salt wasting	OMIM:619406
Alg9-Cdg	Cerebellar atrophy, Low-set, posteriorly rotated ears, Hypoplasia of the bladder, Torticollis, Ur...	ORPHA:79328
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy	ORPHA:83629
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Exaggerated startle response, Abnormal cortical gyration, Sens...	ORPHA:521426
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Posteriorly rotated ears, Distal urethral duplication, Ectopic kidn...	OMIM:146510
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failure, Cardiomyopathy, ...	ORPHA:746
Tay-Sachs Disease	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Exaggerated startle re...	ORPHA:845
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, He...	ORPHA:91138
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Opitz Gbbb Syndrome	Posteriorly rotated ears, Hypospadias, Feeding difficulties in infancy, Abnormality of the urinar...	ORPHA:2745
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Increased bone mineral density, Proteinuria, Failure to thrive, Cac...	ORPHA:77297
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc...	OMIM:255160
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Dystonia, Global brain ...	OMIM:168601
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Abnormal renal corticomedullary differentiation, Bradycardia, ...	OMIM:617397
Bohring-Opitz Syndrome	Posteriorly rotated ears, Delayed peripheral myelination, Feeding difficulties, Gray matter heter...	OMIM:605039
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Dysp...	ORPHA:368
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Small Bowel Atresia	Abdominal distention, Vomiting, Feeding difficulties	ORPHA:1201
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Increased bone mineral density, Obesity, Reduced bone mineral ...	ORPHA:79443
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, Chorea, Clumsi...	OMIM:615673
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Torticollis, Anorexia, Abdominal distention, Vertigo, Episodic abdominal pain	ORPHA:370348
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Decreased body weight, Astrocytosis	ORPHA:258
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Jaundi...	OMIM:214500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior,...	ORPHA:353281
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidn...	OMIM:194050
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Glomerulonephritis, Perianal abscess,...	ORPHA:2968
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Increased bone mineral density, Obesity, Hyperphosphatemia, Hy...	ORPHA:79444
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Ketonuria, Elevated circulating creatine kinase concentratio...	ORPHA:480864
Penile Agenesis	Urethral atresia, male, Posteriorly rotated ears, Hydroureter, Maternal diabetes, Atrophy of the ...	ORPHA:49
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Weight loss, Su...	ORPHA:97261
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gliosis	ORPHA:457240
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Leukodystrophy	OMIM:601539
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Occipital Horn Syndrome	Orthostatic hypotension, Ureteral obstruction, Chronic diarrhea, Bladder diverticulum, Hydronephr...	OMIM:304150
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur...	ORPHA:289157
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Hypercalcemia, Weight loss, Hemato...	ORPHA:913
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc...	ORPHA:99826
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Koolen-De Vries Syndrome Due To A Point Mutation	Overfriendliness, Recurrent urinary tract infections, Renal duplication, Hypospadias, Nasogastric...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Overfriendliness, Recurrent urinary tract infections, Renal duplication, Hypospadias, Nasogastric...	ORPHA:363958
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Increased level of L-fucose in urine	OMIM:215600
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Gastrointestinal dysmotility, Hydronephrosis	ORPHA:531151
Dextrocardia	Abnormal renal morphology, Aplasia/Hypoplasia of the ear, Abnormality of the ureter	ORPHA:1666
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephr...	ORPHA:39041
Congenital Disorder Of Glycosylation, Type Iic	Cellulitis, Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paralysis	OMIM:612300
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy	ORPHA:1177
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:614381
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Thakker-Donnai Syndrome	Macrotia, Posteriorly rotated ears, Hydronephrosis	ORPHA:1780
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Microscopic he...	ORPHA:319213
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Seckel Syndrome 10	Diabetes mellitus, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Glycosuria	OMIM:617253
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Low-set ears, Hydro...	ORPHA:99776
O'Sullivan-Mcleod Syndrome	Tremor, Atrophy of the spinal cord, Eosinophilia, Fasciculations	ORPHA:99965
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Di...	ORPHA:95455
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma...	ORPHA:263297
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Yellow Fever	Shock, Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentrat...	ORPHA:99829
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Posteriorly rotated ears, Hypospadias, Feeding difficulties, Protuberant abdomen, Low-set ears, M...	OMIM:619479
Meacham Syndrome	Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Stillbirth, Aplasia of th...	OMIM:608978
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Nephronophthisis-Like Nephropathy 1	Kinetic tremor, Tubular basement membrane disintegration, Sensorineural hearing impairment, Stage...	OMIM:613159
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tremor, Dystonia, Chronic otitis ...	ORPHA:2750
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Hyperactivity, Diarrhea, Neurodegeneration, Recurrent otitis ...	OMIM:251260
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Weight loss, Subcutaneous lipoma	ORPHA:97278
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Truncal titubation, CNS hypomyelination, Leukodystroph...	OMIM:610532
Achondrogenesis Type 1A	Abdominal distention	ORPHA:93299
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Car T Cell Therapy-Associated Cytokine Release Syndrome	Poor appetite, Diarrhea, Decreased urine output, Vomiting, Acute kidney injury, Nausea	ORPHA:542323
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Vomiting, Sensory axonal ne...	OMIM:256850
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Heart block, Abnormal bone ossification, Cardiomyopa...	ORPHA:175
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Trisomy 8P	Posteriorly rotated ears, Fetal pyelectasis, Aplasia/Hypoplasia of the tragus, Micropenis, Nephro...	ORPHA:264450
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Renal salt wasting, Abdomina...	ORPHA:275761
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Microphthalmia, Syndromic 9	Renal malrotation, Renal hypoplasia, Horseshoe kidney, Low-set ears, Pelvic kidney, Hydronephrosis	OMIM:601186
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Chronic con...	ORPHA:79330
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Glomerulopathy, Intestinal obstruction, Renal insufficiency, Proteinuria, Ab...	ORPHA:183
Carnitine Palmitoyltransferase Ii Deficiency	Pachygyria, Polymicrogyria, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithe...	ORPHA:157
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Pulmonic ste...	OMIM:306955
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva...	ORPHA:90038
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Dystonia, Posteriorly rotated ears, Anteverted ears, Abnormal...	OMIM:616268
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati...	OMIM:612852
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased number of peripheral mye...	ORPHA:99949
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Hypospadias, Chronic diarrhea, Protruding ear, Abnormal antihe...	ORPHA:235
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, F...	ORPHA:1606
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Optic nerve hypoplasia, Feeding difficulties, Macrotia, Cerebral co...	OMIM:617864
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Congestive heart failure, Abnormal renal tubular resorption, Dilated cardio...	ORPHA:73224
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Craniosynostosis, Splenomegaly, Lymphadenopathy, Reduced bone mineral density, Hypo...	ORPHA:667
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p...	OMIM:234200
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen	OMIM:277300
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Cerebellar atrophy, Hypospadias, Unilateral renal agenesis, Op...	ORPHA:487796
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Bidirectional ventricular ectopy, Hypokalemia, Syncope, Palpitations, Prom...	OMIM:170390
Congenital Disorder Of Glycosylation, Type It	Hypoglycemia, Chronic diarrhea, Vomiting, Recurrent otitis media, Hydronephrosis	OMIM:614921
Legionnaires Disease	Nausea and vomiting, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, Diarrhea, Hematuria	ORPHA:549
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Joint contracture of the 5th finger, Bradycardia, Atrioventricular block	OMIM:614407
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Parkinsonism, Tremor, Obesity	ORPHA:3077
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Dystonia, Onion bulb formation, Dysphagia	OMIM:614487
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen	ORPHA:226313
Immunoglobulin A Vasculitis	Nausea and vomiting, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuri...	ORPHA:761
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Underdevelop...	ORPHA:2036
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Erythro...	OMIM:233450
Scorpion Envenomation	Restlessness, Ketonuria, Abdominal pain, Tremor, Diarrhea, Vomiting, Glycosuria, Hyperglycemia, A...	ORPHA:466677
Achondrogenesis, Type Ib	Abdominal distention	OMIM:600972
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp...	ORPHA:88
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
3Mc Syndrome 1	Conductive hearing impairment, Hydronephrosis, Hearing impairment	OMIM:257920
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Vitamin D-Dependent Rickets, Type 2A	Protuberant abdomen, Hearing impairment	OMIM:277440
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Delayed CNS myelination, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressiv...	OMIM:620330
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy...	OMIM:608203
Microscopic Polyangiitis	Nausea and vomiting, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Abdominal ...	ORPHA:727
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Neurodegeneration	OMIM:620210
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Short-Rib Thoracic Dysplasia 12	Abnormal pinna morphology, Posteriorly rotated ears, Renal hypoplasia, Protuberant abdomen, Low-s...	OMIM:269860
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Staphylococcal Necrotizing Pneumonia	Shock, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukope...	ORPHA:36238
Tick-Borne Encephalitis	Elevated hepatic transaminase, Speech apraxia, Incoordination, Paralysis, Tremor, Leukocytosis, L...	ORPHA:297
Congenital Sialidosis Type 2	Hepatomegaly, Abnormal EKG, Inguinal hernia, Abnormality of the kidney, Telangiectasia, Hepatospl...	ORPHA:93400
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Thrombocytopenia, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilirubi...	ORPHA:163979
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Diffuse Cutaneous Systemic Sclerosis	Nausea and vomiting, Renal insufficiency, Oliguria, Gastroesophageal reflux, Dysphagia, Abnormal ...	ORPHA:220393
Oculopharyngodistal Myopathy	Vocal cord paresis, Paraplegia, Weight loss	ORPHA:98897
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Bradycardia, Umbilical hernia, Abnormal circula...	ORPHA:95716
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Asparagine Synthetase Deficiency	Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst sup...	OMIM:615574
Currarino Syndrome	Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Gastrointestinal ob...	OMIM:176450
Liver Disease, Severe Congenital	Recurrent urinary tract infections, Delayed CNS myelination, Hypospadias, Abdominal distention, D...	OMIM:619991
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectas...	ORPHA:2136
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia, Paralysis	ORPHA:83601
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Sensorineural hearing impairment, Optic ...	ORPHA:99956
Niemann-Pick Disease, Type A	Delayed CNS myelination, Feeding difficulties in infancy, Athetosis, Constipation, Vomiting, Prot...	OMIM:257200
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 1 chronic kidney disease, Stage 5 chronic ...	OMIM:218330
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Igg4-Related Aortitis	Intestinal obstruction, Hydronephrosis, Abdominal pain	ORPHA:449400
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration, Dec...	OMIM:615490
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria	OMIM:603585
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Bowel incontinence, Epispadias, Abnormal...	ORPHA:93930
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response, Urinary incontinence, Chronic diarrhea, Ep...	OMIM:268800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Posteriorly rotated ears, Abnormal cortical gyration, Delayed myeli...	OMIM:617527
Renal Nutcracker Syndrome	Orthostatic hypotension, Proteinuria, Abdominal pain, Hematuria, Abnormal autonomic nervous syste...	ORPHA:71273
Aceruloplasminemia	Refractory anemia, Abnormal circulating enzyme concentration or activity, Torticollis, Ataxia, Pa...	ORPHA:48818
Heterotaxy, Visceral, 5, Autosomal	Cerebellar atrophy, Ureteral duplication, Ureteral stenosis, Renal hypoplasia, Cerebral atrophy	OMIM:270100
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ...	OMIM:300100
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Pancytopenia, Recurrent urinary tract infections, Inguinal hernia, Thin bony cortex, ...	OMIM:613658
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Pachygyria, Polymicrogyria, Red-brown urine, Abnormal...	ORPHA:228308
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Delayed CNS myelination, Hydroureter, Posteriorly rotated ears, Unilateral rena...	OMIM:619194
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Chime Syndrome	Abnormality of the kidney, Hydronephrosis, Abnormality of the outer ear, Cerebral cortical atroph...	ORPHA:3474
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte...	OMIM:615237
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Ot...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Ot...	ORPHA:353277
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Papa Syndrome	Type I diabetes mellitus, Proteinuria, Crohn's disease	ORPHA:69126
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re...	ORPHA:320406
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Sensorineural hearing impairment, Abnormality of renal excretion, Hyperp...	ORPHA:289176
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Vesicoureteral reflux...	OMIM:129900
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias, Facial palsy	ORPHA:1358
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Feeding difficulties, Opisthotonus, Mild proteinuria, Nasogastric tube feeding	OMIM:619685
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis	OMIM:612164
Acrorenal-Mandibular Syndrome	Renal agenesis, Posteriorly rotated ears, Abnormality of the ureter, Aplasia of the bladder, Low-...	OMIM:200980
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria	OMIM:615578
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical ...	OMIM:130650
Congenital Tufting Enteropathy	Abdominal distention, Chronic diarrhea, Optic disc coloboma, Secretory diarrhea, Vomiting	ORPHA:92050
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Hypoglycemic s...	OMIM:231530
Rift Valley Fever	Elevated hepatic transaminase, Paralysis, Paraparesis, Jaundice, Hepatitis, Anemia, Hemiparesis, ...	ORPHA:319251
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Tachycardia, Small for gestational age, Cardiac shunt, Cardiomegaly, Congestive hea...	ORPHA:860
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Isotretinoin-Like Syndrome	Inguinal hernia, Aortic valve stenosis, Lymphopenia, Hypocalcemia	ORPHA:2306
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hydronephrosis, Unilateral renal agenesis, Hearing impairment	OMIM:308050
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Thrombocytopenia, Increased mean corpuscular volume	ORPHA:261250
Cardiac-Urogenital Syndrome	Accessory spleen, Tachycardia, Congenital diaphragmatic hernia, Enlarged kidney, Patent urachus, ...	OMIM:618280
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia	OMIM:619814
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration	OMIM:146500
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Oral-pharyn...	ORPHA:254930
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Holoprosencephaly	Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, External ear malformation, Fee...	ORPHA:2162
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Central nervous system degeneration, Hematuria, Gastrointestinal hemorrhage, Proteinuria	OMIM:192315
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Myoglobinuria, Renal insufficiency	ORPHA:713
Craniofacioskeletal Syndrome	Microtia, Posteriorly rotated ears, Hydronephrosis, Hypospadias	OMIM:300712
Cap Polyposis	Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation	ORPHA:160148
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia	OMIM:168605
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpi...	ORPHA:231625
Aymé-Gripp Syndrome	Posteriorly rotated ears, Proteinuria, Sensorineural hearing impairment, EEG abnormality, Microti...	ORPHA:1272
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia	ORPHA:40366
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination, Abnorma...	ORPHA:168563
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures	OMIM:241410
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Weight loss, Hypoalbuminemia...	ORPHA:67
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, EEG with spike-wave complexes, Tremo...	ORPHA:1934
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain	ORPHA:168829
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Sensorineural hearing impairment, Cupped ear...	ORPHA:2363
Shigellosis	Hyponatremia, Failure to thrive in infancy, Abscess, Hemolytic-uremic syndrome, Myocarditis, Leuk...	ORPHA:810
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong...	OMIM:601214
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v...	ORPHA:70591
Abetalipoproteinemia	CNS demyelination, Peripheral demyelination	OMIM:200100
Combined Oxidative Phosphorylation Defect Type 29	Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a...	ORPHA:478029
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Sudden cardiac death, Leukocytosis, W...	ORPHA:764
Fryns Syndrome	Ureteral duplication, Aganglionic megacolon, Hypospadias, Renal agenesis, Renal cyst, Abnormal he...	OMIM:229850
Schwartz-Jampel Syndrome	Low-set, posteriorly rotated ears, Feeding difficulties in infancy, Abnormality of the ureter, Ne...	ORPHA:800
Oculocerebrorenal Syndrome Of Lowe	Feeding difficulties in infancy, Protruding ear, Nephrocalcinosis, Oligosacchariduria, Aminoacidu...	ORPHA:534
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Chondritis of pinna, Vertigo, Sensorineural hea...	ORPHA:728
Jacobsen Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Feeding difficulties in infancy,...	ORPHA:2308
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Abdominal distention, Dilatation of the renal pelvis, Stage 5 ch...	OMIM:619534
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Tremor, Vocal cord paresis, Fasciculations, Polyminimyoclonus	OMIM:619574
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Trisomy 18	Low-set, posteriorly rotated ears, Pointed helix, Hydronephrosis, Abnormality of the upper urinar...	ORPHA:3380
Apert Syndrome	Chronic otitis media, Hydronephrosis, Hearing impairment	OMIM:101200
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Le...	OMIM:616271
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Low-set ears, Dysphagia	OMIM:617301
Wolman Disease	Nausea and vomiting, Abdominal distention, Malnutrition, Hepatic failure	ORPHA:75233
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Vocal cord paralysis, Myoclonus, Dystonia, Spasticity, Cerebral cortical atrophy	ORPHA:500144
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Hydronephrosis, Urethral atresia	OMIM:271520
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Ureteral agenesis, Bilateral renal agenesis, Low-...	OMIM:617667
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata...	OMIM:618056
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Feed...	OMIM:201300
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Posteriorly rotated ears, Protruding ear, Nephrotic syndrome, Constipation, Low-set ears, Hydrone...	OMIM:601776
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy...	ORPHA:2396
Dyggve-Melchior-Clausen Disease	Hyperactivity, Protuberant abdomen, Hearing impairment	ORPHA:239
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Membranoproliferative glomerulonephritis, Prote...	ORPHA:91139
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Optic atrophy	OMIM:251900
Pituitary Dermoid And Epidermoid Cysts	Nausea and vomiting, Polydipsia	ORPHA:91351
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Inguinal hernia, Hypospadias, Nephroblastoma, Congenital diaphragmatic hernia, Sple...	OMIM:312870
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Abdominal pain, Rena...	ORPHA:93126
Orofaciodigital Syndrome I	Proteinuria, Abnormal cortical gyration, Cerebral atrophy, Gray matter heterotopia, Polycystic ki...	OMIM:311200
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Hypercalcemia, Thymoma, Renal angiomyolipoma, Subcutaneous lipoma	ORPHA:276152
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter, Posteriorly rotated ears, Feeding difficulties in infancy, Gastroesophageal reflux, ...	OMIM:610759
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia	OMIM:617281
Congenital Myopathy 22A, Classic	Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosis, Bradycardia,...	OMIM:620351
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Protuberant abdomen, Low-set ears	OMIM:151210
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia, 4-hydroxyphenylacetic aciduria, Abdominal distention, 4-Hydroxyphenylpyruvic acidur...	OMIM:617156
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Obesity, Heart murmur, Enuresis nocturna, Truncal obesity, Mi...	OMIM:615873
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Ureteral duplication, Hypoplasia of penis, Multicysti...	ORPHA:373
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal circulating enzyme concentration or activity, Pallidal degeneration, Dystonia, Ataxia, P...	ORPHA:25
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Oliguria, Fasting hypoglycemia, Hepatic failure, Hypoketotic hypoglycemia	ORPHA:159
Mitochondrial Complex I Deficiency, Nuclear Type 37	Inguinal hernia, Hypospadias, Bradycardia, Pulmonary arterial hypertension, Failure to thrive	OMIM:619272
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Abdominal pain, Abdominal distention, Vomiting, Nausea	ORPHA:90003
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Failure to thrive, Tremor, Sple...	OMIM:615512
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Mesomelia-Synostoses Syndrome	Hydronephrosis, Hearing impairment	OMIM:600383
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Joint contracture, Bradycardia	OMIM:614498
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Red-brown urine, Episodic abdominal pain, Myoglobinuria, Hepatic failure, Hypoketotic hypoglycemia	ORPHA:228305
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Vomiting, Decreased liver function	OMIM:602199
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Optic atrophy, Feeding difficulties, Nephrocal...	ORPHA:79500
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Chronic oti...	ORPHA:1507
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis	ORPHA:397744
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Carcinoid tumor, Nausea, Neuro...	ORPHA:100085
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia	ORPHA:1756
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Exaggerated startle response, Posteriorly rotated ears, Low-set ears	OMIM:618598
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Subcutaneous lipoma	OMIM:131100
Coffin-Siris Syndrome 1	Delayed CNS myelination, Hydroureter, Posteriorly rotated ears, Abnormal pinna morphology, Hyposp...	OMIM:135900
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Recurrent otitis media	OMIM:620233
Lethal Kniest-Like Dysplasia	Protuberant abdomen, Low-set ears	ORPHA:2347
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Decreased number of peripheral myelinated nerve fibers, Hypoglycemia, Reye...	OMIM:256810
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval, Failure to thrive, Elevated circulating creatine concentration	OMIM:300352
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Inhalational Botulism	Paralysis	ORPHA:254504
Fibrochondrogenesis 1	Protuberant abdomen, Abnormal pinna morphology, Low-set ears	OMIM:228520
Mowat-Wilson Syndrome	Aganglionic megacolon, Hypospadias, Uplifted earlobe, Abnormality of the kidney, Abdominal disten...	OMIM:235730
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Acute kidney injury	ORPHA:57
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Inguinal hernia, Hypospadias, Abnormality of the tonsils, Abnormalit...	ORPHA:567
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Fasciculations	ORPHA:682
Robinow Syndrome, Autosomal Recessive 1	Posteriorly rotated ears, Nephrolithiasis, Nephrocalcinosis, Low-set ears, Micropenis, Hydronephr...	OMIM:268310
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Lipodystrophy, Flexion contracture, Osteoporosis, Intracrani...	ORPHA:86309
Ileal Neuroendocrine Tumor	Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abdominal pain, Hydrone...	ORPHA:100078
Neu-Laxova Syndrome 2	Protuberant abdomen, Lissencephaly, Low-set ears	OMIM:616038
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Abnormal urinary color, Diarrhea, Hemoglobinuria	ORPHA:90035
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Hypospadia...	ORPHA:709
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Robinow Syndrome	Mixed hearing impairment, Multicystic kidney dysplasia, Posteriorly rotated ears, Low-set ears, W...	ORPHA:97360
Charge Syndrome	Mixed hearing impairment, Renal agenesis, Facial palsy, Aplasia of the semicircular canal, Sensor...	OMIM:214800
Floating-Harbor Syndrome	Posteriorly rotated ears, Hypospadias, Aggressive behavior, Glandular hypospadias, Nephrocalcinos...	OMIM:136140
Peritoneal Cystic Mesothelioma	Abdominal distention, Constipation, Abdominal pain	ORPHA:168816
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Megacystis, Hydronephrosis, Hydroureter	OMIM:619431
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea	ORPHA:103910
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Tubulointerst...	ORPHA:33001
Glycogen Storage Disease Ixd	Hypoglycemia, Exercise-induced myoglobinuria	OMIM:300559
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, ...	OMIM:300755
Sanjad-Sakati Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis, Hyperphosphatemia,...	ORPHA:2323
Ivic Syndrome	Leukocytosis, Arrhythmia, Thrombocytopenia	ORPHA:2307
Oncogenic Osteomalacia	Hyperphosphaturia, Fibrous dysplasia of the bones, Renal phosphate wasting, Hypocalcemia, Hypopho...	ORPHA:352540
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Glue ear, Hyperactivity, Polymicrogyria, Abn...	ORPHA:3310
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Aminoaciduria, Bradycardia, Micropenis, Failure to thrive	OMIM:220120
Gaucher Disease	Proteinuria, Abdominal pain, Feeding difficulties in infancy, Tremor, Hematuria, Dysphagia, Heari...	ORPHA:355
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia...	ORPHA:2473
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Poliomyelitis	Paraparesis, Hyperkinetic movements, Fasciculations, Paralysis	ORPHA:2912
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain	ORPHA:83469
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia	ORPHA:293173
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention, CNS hypomyelination	OMIM:619423
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran...	ORPHA:268
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Ce...	OMIM:615530
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H...	OMIM:618476
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Malignant Peritoneal Mesothelioma	Abdominal distention, Ileus, Abdominal pain	ORPHA:168811
Gaucher Disease Type 1	Hematuria, Proteinuria, Anorexia, Abdominal pain	ORPHA:77259
Knobloch Syndrome 1	Cerebellar atrophy, Optic disc pallor, Duplicated collecting system, Polymicrogyria, Cerebral atr...	OMIM:267750
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Ataxia, Tremor, Spasti...	ORPHA:572798
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Feeding difficulties in infancy, Exaggerated startle response, Partial development of the penile ...	OMIM:608800
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval, Cachexia	OMIM:312750
Congenital Disorder Of Glycosylation, Type Ig	Small for gestational age, Hypospadias, Hypocalcemia, Micropenis, Failure to thrive	OMIM:607143
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain	OMIM:277320
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Pontocereb...	OMIM:606002
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Abdominal pain, ...	ORPHA:342
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Facial palsy	ORPHA:206549
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Knee clonus, Trunc...	OMIM:211530
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Gonadoblastoma	Abdominal distention, Abdominal pain	ORPHA:206484
Peutz-Jeghers Syndrome	Abdominal pain, Abnormality of the ureter, Bloody diarrhea, Intestinal bleeding, Bladder polyp	OMIM:175200
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney	OMIM:602200
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par...	ORPHA:167
Mend Syndrome	Abnormal auditory evoked potentials, Hyperactivity, Low-set ears, Aggressive behavior	ORPHA:401973
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Nephropathy, Glomerular sclerosis, Proteinuria	ORPHA:247691
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Sensorineural hearing impairment, Renal cyst, Protruding ear, Bifid ureter, Ne...	OMIM:617107
Niemann-Pick Disease Type C	Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dy...	ORPHA:646
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t...	ORPHA:2273
Congenital Myopathy 15	Vocal cord paralysis	OMIM:620161
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Posteriorly rotated ears, Abnormality of the kidney, Abnormality of the upper urinar...	ORPHA:2636
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Diarrhea, Argininuria, Oroticaciduria, Feeding dif...	ORPHA:470
Sheehan Syndrome	Hyponatremia, Orthostatic hypotension, Obesity, Normochromic anemia, Hyposthenuria, Palpitations,...	ORPHA:91355
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myogl...	OMIM:201475
Congenital Tracheal Stenosis	Abnormality of the ureter, Abnormal earlobe morphology, Abnormality of the kidney	ORPHA:141127
Malakoplakia	Proteinuria, Dysuria, Abdominal pain, Urinary bladder inflammation, Diarrhea, Urinary urgency, He...	ORPHA:556
Ataxia-Telangiectasia	Failure to thrive, Ataxia, Tremor, Slurred speech, Acute lymphoblastic leukemia, T lymphocytopeni...	OMIM:208900
Cerebral Visual Impairment	Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap...	ORPHA:447788
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Dystonia, Delayed myelination, Nephrolithiasis, ...	ORPHA:438213
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, L...	OMIM:618278
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Low urinary cyclic AMP respo...	OMIM:103580
Ovarian Fibroma	Abdominal distention, Abdominal pain	ORPHA:314473
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Rubinstein-Taybi Syndrome 1	Hyperactivity, Hypospadias, Hearing impairment, Impulsivity, Feeding difficulties in infancy, Sel...	OMIM:180849
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	External ear malformation, Feeding difficulties in infancy, Exaggerated startle response, Dystonia	ORPHA:438216
Campomelic Dysplasia	Hypospadias, Feeding difficulties, Low-set ears, Conductive hearing impairment, Hydronephrosis, H...	OMIM:114290
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Elevated hepatic transaminase, Speech apraxia, Dystonia, Ataxia, Tremor, Chor...	OMIM:615356
Hellp Syndrome	Proteinuria, Abdominal pain, Hemoglobinuria, Vomiting, Acute kidney injury, Nausea	ORPHA:244242
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
Genitopatellar Syndrome	Multicystic kidney dysplasia, Periventricular heterotopia, Feeding difficulties, Dysphagia, Micro...	OMIM:606170
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia	ORPHA:240094
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Diarrhea, Abdominal pain	OMIM:615399
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydroneph...	OMIM:236700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Ketotic hypoglycemia, Diarrhea, Renal tubular acidosis, Recurrent hypoglycemia, Vomiting, Fasting...	ORPHA:79240
Al-Gazali Syndrome	Hydronephrosis, Gastrojejunal tube feeding in infancy	OMIM:609465
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis, Feeding difficulties	ORPHA:254528
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Caroli Syndrome	Hepatomegaly, Liver abscess, Abnormality of the kidney, Portal hypertension, Hypersplenism, Conju...	ORPHA:480520
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Splenomegaly, Low alkaline phosphatase, Failure to thrive	OMIM:201100
Ovarian Fibrothecoma	Abdominal distention, Abdominal pain	ORPHA:314478
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Tremor, Jaundice, Elevated circulating ...	ORPHA:69665
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Schwannoma, Abnormal renal morphology, Protruding ear, Attention defici...	ORPHA:363700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia, Neutropenia, Neonatal death,...	OMIM:617248
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Optic atrophy, Sensory axonal neuropathy, Motor ...	OMIM:609541
Mucolipidosis Type Ii	Sensorineural hearing impairment, Protuberant abdomen, Otitis media, Conductive hearing impairmen...	ORPHA:576
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Low-set ears, Polycystic ki...	OMIM:249000
Choreoacanthocytosis	Caudate atrophy, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decreased amplitude of ...	ORPHA:2388
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm...	ORPHA:289
Focal Dermal Hypoplasia	Ureteral duplication, Mixed hearing impairment, Optic atrophy, Horseshoe kidney, Low-set ears, St...	OMIM:305600
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Atypical Werner Syndrome	Renal neoplasm, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia,...	ORPHA:79474
Mowat-Wilson Syndrome	Urinary incontinence, Uplifted earlobe, Gastrointestinal dysmotility, Vomiting, Vesicoureteral re...	ORPHA:2152
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Brain atrophy, Low-set ears, Micropenis, Hydronephrosis, Gastrostomy tu...	ORPHA:83617
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ...	OMIM:211900
Achondrogenesis, Type Ia	Protuberant abdomen, Low-set ears	OMIM:200600
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention	ORPHA:1876
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Hydronephrosis	ORPHA:210122
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Low-set ears...	OMIM:265380
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Hypoketotic hypoglycemia, Feeding difficulties	OMIM:609015
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Vocal cord paralysi...	OMIM:617799
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Anorexia, Abdominal pa...	ORPHA:48435
Polyembryoma	Abdominal distention, Abdominal pain	ORPHA:180229
Caroli Disease	Hepatomegaly, Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Le...	ORPHA:53035
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Atelosteogenesis Type Ii	Protuberant abdomen, Low-set ears	ORPHA:56304
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Hypoglycemia, Recurrent myoglobinuria	OMIM:620300
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension, Flexion contracture, Camptodactyly	OMIM:620029
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypoglycemia, Diarrhea, Renal tubular acidosis, Vomiting, Fasting hypoglycemia, Myoglobinuria, Na...	ORPHA:264580
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Noonan Syndrome 9	Hydroureter	OMIM:616559
Viss Syndrome	Exostosis of the external auditory canal, Posteriorly rotated ears, Abdominal distention, Cupped ...	OMIM:619472
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Brad...	ORPHA:90673
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties in infancy, Di...	OMIM:608643
Spondyloenchondrodysplasia	Hematuria, Chronic kidney disease, Proteinuria	ORPHA:1855
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Splenomegaly, Spastic paraplegia, L...	ORPHA:2072
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic k...	ORPHA:261537
Peters-Plus Syndrome	Ureteral duplication, Posteriorly rotated ears, Hypospadias, Feeding difficulties in infancy, Ren...	OMIM:261540
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Tremor, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Failure t...	OMIM:251100
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Hypospadias, Abnormality of the kidney, Epispadias, Obesity, ...	ORPHA:1772
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Low-set, posteriorly rotated ears, Abnormal cortical gyration, Feeding difficulties, Hydronephros...	ORPHA:480880
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Vomiting	ORPHA:71
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Optic nerve dysplasia, Gray matter heterotopia, Micropenis, Hydrone...	OMIM:615287
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Bardet-Biedl Syndrome 20	Papilledema, Micropenis, Proteinuria	OMIM:619471
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Inguinal hernia, Femoral hernia, Unilateral renal agenesis,...	OMIM:188400
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Protuberant abdomen	OMIM:187600
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Delayed peripheral myelination, Hearing impairment	ORPHA:364577
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Protuberant abdomen	OMIM:184250
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Bradycardi...	ORPHA:90674
Hydrolethalus Syndrome 1	Hypospadias, Abnormal pinna morphology, Abnormal cortical gyration, Gray matter heterotopia, Low-...	OMIM:236680
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Anorexia, Abdominal pain, Renal neutrophilic tubulitis, Renal interstitial edema, St...	ORPHA:91500
Primary Biliary Cholangitis	Abdominal distention, Orthostatic hypotension, Hepatic failure, Gastrointestinal inflammation	ORPHA:186
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Aganglionic megacolon, Hypospadias, Renal insuff...	ORPHA:84
Cardiac Diverticulum	Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart...	ORPHA:1686
X-Linked Acrogigantism	Abdominal distention, Fasting hyperinsulinemia, Abnormal oral glucose tolerance, Polyphagia	ORPHA:300373
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Atelosteogenesis, Type I	Protuberant abdomen, Low-set ears	OMIM:108720
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic k...	ORPHA:261552
Meige Disease	Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center	ORPHA:90186
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Weight loss	ORPHA:221098
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Episodic abdominal pain, Neuroendocrine neoplasm, Nausea	ORPHA:100086
Cholesteryl Ester Storage Disease	Acute hepatic failure, Diarrhea, Vomiting, Protuberant abdomen, Hepatic failure	OMIM:278000
Autosomal Recessive Spastic Paraplegia Type 55	Onion bulb formation, Decreased sensory nerve conduction velocity, Optic atrophy, Optic neuropathy	ORPHA:320375
Cutis Laxa, Autosomal Recessive, Type Ic	Gastroesophageal reflux, Hydronephrosis, Multiple bladder diverticula, Feeding difficulties	OMIM:613177
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Hamamy Syndrome	Osteopenia, Inguinal hernia, Prolonged QRS complex, Craniosynostosis, Microcytic anemia, Mitral r...	OMIM:611174
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr...	ORPHA:2035
Urachal Cyst	Dysuria, Abscess, Elevated circulating C-reactive protein concentration, Pyuria, Leukocytosis, Ur...	ORPHA:488
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemi...	ORPHA:93325
Acquired Generalized Lipodystrophy	Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Proteinuria	ORPHA:79086
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Posteriorly rotated ears, Stage 5 chronic kidney disease, Renal cyst, Low-s...	OMIM:266920
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Skin Creases, Congenital Symmetric Circumferential, 2	Posteriorly rotated ears, Hypospadias, Uplifted earlobe, Microtia, Low-set ears, Ureterocele, Ove...	OMIM:616734
Robinow Syndrome, Autosomal Dominant 1	Posteriorly rotated ears, Low-set ears, Micropenis, Hydronephrosis, Renal duplication	OMIM:180700
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	OMIM:602557
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal distention, Nausea, Abdominal pain	ORPHA:64739
African Trypanosomiasis	Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Splenomegaly, Jaundice...	ORPHA:3385
Pyknoachondrogenesis	Abdominal distention, Low-set ears	ORPHA:3003
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention	ORPHA:93352
Thyroid Hypoplasia	Abdominal distention, Constipation	ORPHA:95720
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hypoglycemia, Hematuria, Focal segmental glomerulosclerosis, In...	OMIM:232240
Kawasaki Disease	Pericarditis, Proteinuria, Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Vascu...	ORPHA:2331
Vocal Cord And Pharyngeal Distal Myopathy	Vocal cord paresis, Amyotrophic lateral sclerosis	ORPHA:600
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia, Congenital foot contractures	ORPHA:565624
Meckel Syndrome	Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Optic atro...	ORPHA:564
Blomstrand Lethal Chondrodysplasia	Protuberant abdomen, Low-set ears	ORPHA:50945
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Failure to thrive in infancy, Truncal obesity, Pulmonic stenosis, Vesicour...	ORPHA:529962
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Neurodegeneration, Ataxia	OMIM:615919
X-Linked Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis, Obesity	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis, Obesity	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis, Obesity	ORPHA:98853
Osteogenesis Imperfecta, Type Vii	Hearing abnormality, Hydronephrosis	OMIM:610682
Weill-Marchesani Syndrome 2	Thickened helices, Protuberant abdomen	OMIM:608328
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Small for gestational age, Scarri...	ORPHA:99843
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Feeding difficulties, N...	OMIM:609049
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Abnormal autonomic nervous system physiology, Decreased number of small peripheral...	OMIM:256800
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Hemolytic anemia, Hip contracture, Inguinal hernia, Failure ...	OMIM:619503
Greenberg Dysplasia	Protuberant abdomen, Low-set ears	OMIM:215140
Letterer-Siwe Disease	Abdominal distention	OMIM:246400
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Abdominal distention, Renal hypoplasia, Renal cyst, ...	ORPHA:93271
Hereditary Spherocytosis	Abdominal distention, Abdominal pain	ORPHA:822
Mucopolysaccharidosis, Type Ii	Splenomegaly, Decreased iduronate sulfatase level, Neurodegeneration, Hepatosplenomegaly	OMIM:309900
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa...	ORPHA:980
Otopalatodigital Syndrome, Type Ii	Hypospadias, Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Hydronephrosis	OMIM:304120
Schneckenbecken Dysplasia	Protuberant abdomen	OMIM:269250
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia	OMIM:614653
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Agyria, Optic atrophy, Lissencephaly, Pachygyria, Polymicrogyria, T...	OMIM:253800
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Osteopenia, Failure to thrive in infancy, Myocardial infarction, Renal hyp...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Osteopenia, Failure to thrive in infancy, Myocardial infarction, Renal hyp...	ORPHA:99228
Monosomy X	Prolonged QT interval, Osteopenia, Failure to thrive in infancy, Myocardial infarction, Renal hyp...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Osteopenia, Failure to thrive in infancy, Myocardial infarction, Renal hyp...	ORPHA:881
Colonic Atresia	Abdominal distention	ORPHA:1198
Poland Syndrome	Duplicated collecting system, Diabetes mellitus, Hypospadias, Renal hypoplasia/aplasia, Renal hyp...	ORPHA:2911
Gaucher Disease, Type Ii	Cerebral atrophy, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia	OMIM:230900
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Myoglobinuria, Acute kidney injury	ORPHA:423
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea	OMIM:214700
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Bicarbonaturia, Proximal renal tubul...	OMIM:309000
Proximal Spinal Muscular Atrophy	Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Knee flexion contrac...	ORPHA:70
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Bowel incontinence, Detrusor sphincter dys...	ORPHA:573278
Norrie Disease	Diabetes mellitus, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal coch...	ORPHA:649
Encephalitis Lethargica	Urinary incontinence, Bradycardia	ORPHA:83600
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Microphthalmia, Syndromic 1	Hydroureter, Abnormal pinna morphology, Aganglionic megacolon, Hypospadias, Renal hypoplasia/apla...	OMIM:309800
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Encopresis, Feeding difficulties, Gastroesophageal reflux, Constipation, Abnormal re...	OMIM:616682
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Lymphatic Malformation 7	Abdominal distention	OMIM:617300
Proteasome-Associated Autoinflammatory Syndrome 1	Impaired glucose tolerance, Chronic constipation, Protuberant abdomen, Recurrent otitis media, Ma...	OMIM:256040
Sandhoff Disease, Infantile Form	Exaggerated startle response, Cerebral cortical atrophy, CNS hypomyelination	ORPHA:309155
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Vocal cord paresis	OMIM:601152
Johanson-Blizzard Syndrome	Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Sensorineural hearing impairment, Micrope...	OMIM:243800
Velocardiofacial Syndrome	Umbilical hernia, Inguinal hernia, Hypocalcemia	OMIM:192430
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Exaggerated startle response, Delayed CNS myelination, Feeding difficulties, ...	OMIM:618367
Gaucher Disease Type 3	Hematuria, Proteinuria	ORPHA:77261
Achondrogenesis, Type Ii	Protuberant abdomen	OMIM:200610
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Diarrhea, Colitis, Abdominal pain	ORPHA:309031
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis	OMIM:606071
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria	OMIM:194380
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Posteriorly rotated ears, Feeding difficulties, Microtia, Lissencephaly, Protuberant abdomen, Gas...	ORPHA:96334
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Lupus nephritis, Pyuria	ORPHA:536
Hyperekplexia-Epilepsy Syndrome	EEG with temporal focal spikes, Exaggerated startle response	ORPHA:163985
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Combined Immunodeficiency-Enteropathy Spectrum	Type I diabetes mellitus, Abdominal distention, Bloody diarrhea	ORPHA:436252
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Delayed CNS myelination, Dilatation of the renal pelvis,...	OMIM:274000
Bohring-Opitz Syndrome	Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Urinary retention, Bra...	ORPHA:97297
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Cerebral cortical atrophy	OMIM:618201
Pancreatoblastoma	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:677
Arnold-Chiari Malformation Type I	Progressive cerebellar ataxia, Babinski sign, Vocal cord paralysis, Gait ataxia	ORPHA:268882
Diphallia	Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe...	ORPHA:227
Developmental And Epileptic Encephalopathy 8	Frontal polymicrogyria, Exaggerated startle response	OMIM:300607
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Opisthotonus	OMIM:184850
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Delayed proximal femoral epiphyseal ossification, Bradycardia, Umbilical hernia, Abno...	ORPHA:226307
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Glycogen Storage Disease Xii	Hemoglobinuria	OMIM:611881
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia	OMIM:218700
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus	ORPHA:3198
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Glucose intolerance	OMIM:619127
Proboscis Lateralis	Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma, Ureteral agenesis, Duplic...	ORPHA:141099
Pmm2-Cdg	Abnormal pinna morphology, Proteinuria, Delayed myelination, Insulin resistance, Hyperinsulinemia...	ORPHA:79318
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Low-set ears	OMIM:275210
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Hyperekplexia 3	Exaggerated startle response, Gastroesophageal reflux	OMIM:614618
Pineoblastoma	Paralysis	ORPHA:251909
Thyroid Ectopia	Abdominal distention, Constipation	ORPHA:95712
Hyperekplexia 2	Exaggerated startle response, Gastroesophageal reflux	OMIM:614619
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Low-set ears	ORPHA:1662
Kasabach-Merritt Syndrome	Abdominal distention, Abdominal pain	ORPHA:2330
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Spasticity, Unilateral vocal cord paralysis, Cerebral atrophy	OMIM:301030
Woodhouse-Sakati Syndrome	Osteopenia, Abnormal T-wave, Hyperlipidemia, Micropenis	ORPHA:3464
Degcags Syndrome	Pancytopenia, Small for gestational age, Congenital hypoplastic anemia, Vocal cord paralysis, Hep...	OMIM:619488
Esophageal Atresia	Vocal cord paresis, Hypertonia, Small for gestational age, Failure to thrive in infancy	ORPHA:1199
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Protuberant abdomen	OMIM:618019
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia	OMIM:614437
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Chand Syndrome	Hydroureter	ORPHA:1401
Woodhouse-Sakati Syndrome	Abnormal T-wave, Hyperlipidemia, Micropenis	OMIM:241080
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intermittent diarrhea, Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Feedin...	ORPHA:2255
Feingold Syndrome 1	Asplenia, Vocal cord paralysis, Polysplenia, Accessory spleen	OMIM:164280
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis	ORPHA:324540
Codas Syndrome	Vocal cord paresis	OMIM:600373
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure	OMIM:601992
Primrose Syndrome	Truncal obesity, Neurodegeneration, Ataxia	OMIM:259050

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Kidney - MPATH pathological process term inflammation	Scarb2^em2(IMPC)Tcp	HOM		Early adult

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 Scarb2.

No publications found that use IMPC mice or data for Scarb2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Scarb2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Scarb2^em2(IMPC)Tcp	Indel	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Scarb2 MGI:1196458

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Immunophenotyping

X-ray

X-ray

X-ray

X-ray

Immunophenotyping

Gross Pathology and Tissue Collection

Histopathology

Eye Morphology

Human diseases caused by Scarb2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data