Genes Phenotypes Help, News, Blog

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

Gene: Phyh MGI:891978

Gene Summary

Name:

phytanoyl-CoA hydroxylase

Synonyms:

Lnap1

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 neutrophil cell number	Phyh^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.74×10^-14
decreased prepulse inhibition	Phyh^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.14×10^-05
decreased lymphocyte cell number	Phyh^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.21×10^-12

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.

Eye Morphology

Images Ophthalmoscopy

10 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Gross Pathology and Tissue Collection

Images

8 Images

View images

Eye Morphology

Images Slit Lamp

4 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Histopathology

Images

4 Images

View images

X-ray

XRay Images Hind Leg and Hip

1 Images

View images

Immunophenotyping

Panel A FCS file(s)

5 Images

View images

Immunophenotyping

Panel B FCS file(s)

5 Images

View images

Human diseases caused by Phyh 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 Phyh (2 diseases)
Human diseases predicted to be associated with Phyh (606 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Refsum Disease, Classic		Elevated circulating phytanic acid concentration, Reduced phytanic acid oxidase activity in cultu...	OMIM:266500
Refsum Disease		Abnormal pyramidal sign, Hemiplegia/hemiparesis, Ataxia, Splenomegaly	ORPHA:773

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

Disease	Matching phenotypes	Source
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Decreased distal sensory nerve action potential, Elevated circulating hepatic transaminase concen...	OMIM:618400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Decreased liver function, Hepatomegaly, Decreased nerve conduction velocity, Hypero...	OMIM:238970
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Steppage gait, Distal sensory impairment, Impaired distal proprioception, Cerebellar atrophy, Ata...	OMIM:607250
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Tip-toe gait, Steppage gait, Difficulty walking, Decreased nerve conduction velocity, Gait imbala...	ORPHA:435387
X-Linked Charcot-Marie-Tooth Disease Type 6	Steppage gait, Decreased nerve conduction velocity, Difficulty walking, Distal sensory impairment...	ORPHA:352675
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Increased serum sorbitol concentration, Difficulty walking, Impaired pain sensation, Decreased am...	OMIM:618912
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:614480
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Steppage gait, Decreased nerve conduction velocity, Inability to walk, Gait disturbance, Extremel...	ORPHA:99939
Leukodystrophy, Hypomyelinating, 18	Babinski sign, Decreased nerve conduction velocity, Spasticity, Progressive spasticity, Cerebella...	OMIM:618404
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Steppage gait, Distal sensory impairment, Mildly elevated creatine kinase, Decreased motor nerve ...	OMIM:615376
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Distal sens...	OMIM:601098
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest...	OMIM:615703
Lower Motor Neuron Syndrome With Late-Adult Onset	Increased intramuscular fat, Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Im...	ORPHA:276435
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu...	OMIM:616829
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased distal sensory nerve action potential, Steppage gait, Difficulty walking, Decreased ner...	ORPHA:206594
Charcot-Marie-Tooth Disease, Axonal, Type 2Y	Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Elevated circulat...	OMIM:616687
Chronic Inflammatory Demyelinating Polyneuropathy	Decreased nerve conduction velocity, Difficulty walking, Abnormal nerve conduction velocity, Fall...	ORPHA:2932
Charcot-Marie-Tooth Disease, Type 4J	Ankle flexion contracture, Decreased nerve conduction velocity, Distal sensory impairment, Freque...	OMIM:611228
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Distal sensory impairment, Inability to walk, Impaired dista...	ORPHA:99948
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Hepatomegaly, Folliculitis, Inflammation of the large intestine, Splenomega...	OMIM:300635
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr...	OMIM:232700
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Steppage gait, Distal sensory impairment, Impair...	OMIM:607684
Hereditary Motor And Sensory Neuropathy V	Babinski sign, Hypertonia, Difficulty walking, Distal sensory impairment, Spasticity, Frequent fa...	OMIM:600361
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Intention tremor, Splenomegaly, Myoclonus, Hypocholesterolemia, Hypersplenism	OMIM:610539
Null Syndrome	Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Abnorm...	ORPHA:280234
Roussy-Lévy Syndrome	Limb ataxia, Babinski sign, Somatic sensory dysfunction, Difficulty walking, Impaired temperature...	ORPHA:3115
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:607765
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Impaired vibration sensation at ankles, Gait ataxia, Decreas...	ORPHA:90103
Early-Onset X-Linked Optic Atrophy	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Dysdiadochokinesis, Gait ataxi...	ORPHA:98890
Autosomal Recessive Spastic Paraplegia Type 21	Difficulty walking, Apraxia, Abnormality of extrapyramidal motor function, Spasticity, Gait distu...	ORPHA:101001
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Generalized lipodystrophy, Tetraparesis, Spasticit...	ORPHA:363400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Babinski sign, Steppage gait, Decreased sensory nerve conduction velocity, Hyperto...	OMIM:609260
Ataxia-Pancytopenia Syndrome	Babinski sign, Decreased nerve conduction velocity, Distal sensory impairment, Impaired vibration...	OMIM:159550
X-Linked Charcot-Marie-Tooth Disease Type 4	Decreased nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia	ORPHA:101078
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Loss of subcutane...	ORPHA:280356
Late-Infantile/Juvenile Krabbe Disease	Tetraplegia, Ataxia, Acroparesthesia, Clumsiness, Hemiplegia, Difficulty walking, Decreased nerve...	ORPHA:206443
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Spasticity, Abolished vibration sense, Frequent falls, Achilles tendon contracture, Decreased mot...	OMIM:620068
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Elevated circulating creatine kinase concentration, Ataxia, Elevated serum tr...	OMIM:611182
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Generalized lipodystrophy, Hypocalcemia...	OMIM:612526
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Chaddock reflex, Babinski sign, Difficulty walking, Decreased compound muscle action potential am...	OMIM:619112
Charcot-Marie-Tooth Disease Type 1A	Decreased sensory nerve conduction velocity, Distal sensory impairment, Gait imbalance, Spontaneo...	ORPHA:101081
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment	OMIM:620111
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Steppage gait, Distal sensory impairment, Claw hand deformity, Fasciculations, Decreased motor ne...	OMIM:606595
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia	OMIM:183050
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Elevated circulating phytanic acid concentration, Failure to thrive, A...	OMIM:266510
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Babinski sign, Hypertonia, Difficulty walking, Distal sensory impairment, Fasciculations, Incoord...	OMIM:616688
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Optic atrophy, Decreased nerve conduction velocity, Premature pubarche, Inability to walk, Foot j...	ORPHA:457205
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Difficult...	OMIM:608323
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment	OMIM:302801
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Imp...	OMIM:246700
X-Linked Charcot-Marie-Tooth Disease Type 3	Difficulty walking, Inability to walk, Tremor, Gait disturbance, Decreased motor nerve conduction...	ORPHA:101077
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Babinski sign, Hypertonia, Decreased nerve conduction velocity, Dysdiadochokinesis, Cerebellar at...	OMIM:618356
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph...	OMIM:613812
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired proprioception, Impaired temperature sensation, Abnormal motor neuron morphology, Impair...	DECIPHER:29
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Steppage gait, Impaired distal vibration sensation, Im...	OMIM:610100
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Decreased nerve conduction velocity, Ataxia, Tremor	ORPHA:1368
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati...	ORPHA:79303
Charcot-Marie-Tooth Disease, Type 4H	Distal sensory impairment, Waddling gait, Unsteady gait, Decreased motor nerve conduction velocit...	OMIM:609311
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Hypercholesterolemia, Increased serum bile acid concentr...	OMIM:619868
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Impaired pain sensation, Impaired distal vibrati...	OMIM:607706
X-Linked Charcot-Marie-Tooth Disease Type 1	Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia	ORPHA:101075
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased circulating...	OMIM:278000
Ataxia-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Ataxia, Aplasia/Hypoplasia of the cerebellum	ORPHA:1188
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Difficulty walking, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Trunca...	ORPHA:369840
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	OMIM:615558
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Babinski sign, Inability to walk, Spasticity, Spastic paraplegia, Abnormality of p...	ORPHA:431329
Huntington Disease-Like 1	Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Cerebella...	ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 32	Limb ataxia, Bradykinesia, Abnormal nerve conduction velocity, Torticollis, Cerebellar atrophy, G...	OMIM:619862
Wilson Disease	Cirrhosis, Difficulty walking, Elevated circulating hepatic transaminase concentration, Jaundice,...	ORPHA:905
Leukoencephalopathy With Dystonia And Motor Neuropathy	Torticollis, Azoospermia, Head tremor, Intention tremor, Hypergonadotropic hypogonadism, Impaired...	OMIM:613724
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Claw hand deformity, Decreased compound muscle action ...	OMIM:605726
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Waddling gait, Elevated circulating creatine kinase concentr...	OMIM:618138
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Steppage gait, Decreased compound muscle action potential amplitude, Foot osteomyelitis, Fascicul...	OMIM:600882
Spinocerebellar Ataxia 10	Limb ataxia, Babinski sign, Limb fasciculations, Decreased nerve conduction velocity, Progressive...	OMIM:603516
Chylomicron Retention Disease	Steatorrhea, Impaired proprioception, Elevated circulating hepatic transaminase concentration, Fa...	ORPHA:71
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Difficulty walking, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduc...	OMIM:158580
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co...	OMIM:615980
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Fasciculations, Decreased motor nerve conduction velocity, Difficulty walking	OMIM:615575
Hepatitis Delta	Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ...	ORPHA:402823
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Steppage gait	OMIM:607678
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,...	OMIM:605814
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Pericar...	OMIM:212065
Spinocerebellar Ataxia Type 1	Optic atrophy, Bradykinesia, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalan...	ORPHA:98755
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Inability to walk, Abnormal reproductive system morphology, Abnormal ci...	ORPHA:70472
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Distal sensory impairment, Waddling gait, Decreased compound muscle action potential amplitude, C...	OMIM:616040
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo...	OMIM:302800
Charcot-Marie-Tooth Disease Type 1B	Somatic sensory dysfunction, Decreased nerve conduction velocity, Elevated circulating creatine k...	ORPHA:101082
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cachexia, Elevated circulating creatine kinase concentration...	ORPHA:1933
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment, Facial palsy	OMIM:118210
Abetalipoproteinemia	Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase c...	ORPHA:14
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Broad-based gait, Elevated circulating alanine aminotransferase conce...	OMIM:618805
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Distal sensory impairment, Spa...	OMIM:612674
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul...	OMIM:603471
Spastic Ataxia, Charlevoix-Saguenay Type	Spastic gait, Babinski sign, Decreased sensory nerve conduction velocity, Distal sensory impairme...	OMIM:270550
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal seventh cranial physiology, Limb fasciculations, Distal sensory impairment, Inability to...	ORPHA:90117
Neuropathy, Congenital Hypomyelinating, 2	Sensory ataxia, Decreased motor nerve conduction velocity, Facial diplegia, Inability to walk	OMIM:618184
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Babinski sign, Foot osteomyelitis, Impaired pain sensation, Spasticity, Abnormal autonomic nervou...	ORPHA:139578
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase ...	OMIM:620357
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Loss of gluteal subcutaneou...	ORPHA:435660
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipose tissue, Loss of su...	OMIM:608709
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Steppage gait, Decreased nerve conduction velocity, Distal sensory impairment, Paraparesis	OMIM:302802
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia	ORPHA:640
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Hepatic steatosis, Lipodystrophy	OMIM:613877
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Steppage gait, Spastic dysarthria, Impaired distal proprioception, Cerebellar vermis atrophy, Imp...	ORPHA:94124
Spinocerebellar Ataxia 1	Fasciculations, Chorea, Impaired vibratory sensation, Optic atrophy, Babinski sign, Impaired prop...	OMIM:164400
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Cerebellar atrophy, Failure to thrive, Splenomegaly, Lipodystrophy, Hypoalbuminemia...	OMIM:608776
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity	ORPHA:139536
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Congenital Myopathy 10A, Severe Variant	Tongue fasciculations, Diaphragmatic paralysis, Facial palsy, Elevated circulating creatine kinas...	OMIM:614399
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Babinski sign, Decreased nerve conduction velocity, Spastic tetraparesis, Gait ataxia, Loss of am...	OMIM:249900
Neuropathy, Hereditary Motor And Sensory, Russe Type	Difficulty walking, Distal sensory impairment, Claw hand deformity, Paralysis, Decreased motor ne...	OMIM:605285
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Distal sensory impairment, Claw hand deformity, Impaired dis...	OMIM:601455
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Difficulty walking, Distal sensory impairment, G...	ORPHA:99953
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Hypocholesterolemia, Blepharitis, Decreased LDL choleste...	OMIM:616834
Spastic Paraplegia 17, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Impaired distal proprioception, Impaired vibr...	OMIM:270685
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Loss of ambulation, Distal sensory impairment, Gait disturbance	OMIM:615284
Parkinsonism With Polyneuropathy	Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ...	OMIM:619279
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Hypertonia, Failure to thrive, Elevated circulating acylcarnitine concentration, H...	ORPHA:26792
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Decreased nerve conduction velocity, Truncal obesity, Gait disturbance	ORPHA:2928
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Babinski sign, Decreased nerve conduction velocity, Limb hypertonia, Abnormal circu...	ORPHA:565624
Neuronal Intranuclear Inclusion Disease	Decreased sensory nerve conduction velocity, Tremor, Gait disturbance, Rigidity, Ataxia, Decrease...	OMIM:603472
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, ...	OMIM:612577
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Elevated circulating C-reactive pro...	ORPHA:158061
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:605589
Krabbe Disease	Optic atrophy, Hypertonia, Decreased nerve conduction velocity, Abnormal flash visual evoked pote...	OMIM:245200
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Steppage gait, Difficulty walking, Distal sensory impairment, Broad-based gait, Sensory ataxia, G...	OMIM:614895
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Loss of gluteal subcuta...	OMIM:604367
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in female...	ORPHA:528
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance	ORPHA:99944
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11	Babinski sign, Steppage gait, Difficulty walking, Decreased compound muscle action potential ampl...	OMIM:620528
Metachromatic Leukodystrophy	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Gallbladder dysfunction, Chore...	OMIM:250100
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Optic nerve h...	OMIM:617302
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Decreased sensory nerve conduction velocity, Elevated circulating hepatic transaminase...	ORPHA:298
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba...	ORPHA:99014
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa...	OMIM:218000
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis	OMIM:114550
Sialidosis Type 1	Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia, Splenomegaly, Myoclonus, E...	ORPHA:812
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemiparesis, Recurrent otitis media, Hepatitis, Splenomegaly	ORPHA:444463
Adult-Onset Distal Myopathy Due To Vcp Mutation	Decreased nerve conduction velocity, Difficulty walking, Fasciculations, Facial diplegia, Tremor,...	ORPHA:329478
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal audi...	OMIM:601382
Potocki-Lupski Syndrome	Failure to thrive, Hypocholesterolemia, EEG abnormality, Small for gestational age	OMIM:610883
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Male...	OMIM:615381
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Steppage gait, Distal sensory impairment, Decreased compound muscle action potential amplitude, V...	OMIM:613641
Maternal Uniparental Disomy Of Chromosome 4	Spastic gait, Optic atrophy, Chaddock reflex, Impaired proprioception, Decreased body weight, Ele...	ORPHA:96180
Triose Phosphate-Isomerase Deficiency	Diaphragmatic paralysis, Decreased nerve conduction velocity	ORPHA:868
Wild Type Abeta2M Amyloidosis	Decreased nerve conduction velocity, Arthritis, Tetraplegia, Dysesthesia, Decreased amplitude of ...	ORPHA:85446
Charcot-Marie-Tooth Disease Type 1F	Limb ataxia, Steppage gait, Decreased nerve conduction velocity, Impaired proprioception, Inabili...	ORPHA:101085
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Scarring, Increased circulating ferritin concentration, Elevated ci...	ORPHA:101330
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Spasticity, Cerebellar hypoplasia, Hypocholesterolemia, Micropenis, Hydrocele testis	OMIM:618810
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand paresthesia, Vocal cord paralysis, Froment sign, Decreased motor nerve conduction velocity, ...	OMIM:162500
Metachromatic Leukodystrophy, Late Infantile Form	Tip-toe gait, Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Decerebrate rigi...	ORPHA:309256
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Spastic gait, Babinski sign, Decreased circulating apolipoprotein B concentration, Distal sensory...	OMIM:256840
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Hepatomegaly, Increased C-peptide level, Lipodystrophy, Hepatic steatosis	OMIM:615238
Charcot-Marie-Tooth Disease Type 4D	Distal sensory impairment, Inability to walk, Decreased amplitude of sensory action potentials, U...	ORPHA:99950
Combined Oxidative Phosphorylation Defect Type 13	Ankle flexion contracture, Decreased nerve conduction velocity, Failure to thrive, Lower limb hyp...	ORPHA:319514
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Failure to thrive, E...	OMIM:617872
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu...	OMIM:619048
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment	OMIM:605588
Roussy-Levy Hereditary Areflexic Dystasia	Distal sensory impairment, Gait ataxia, Action tremor, Upper limb postural tremor, Decreased moto...	OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:613287
Dpm1-Cdg	Optic atrophy, Pontocerebellar atrophy, Hepatomegaly, Elevated circulating hepatic transaminase c...	ORPHA:79322
Combined Oxidative Phosphorylation Deficiency 13	Decreased nerve conduction velocity, Choreoathetosis	OMIM:614932
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat...	ORPHA:247585
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Babinski sign, Difficulty walking, Decreased nerve conduction velocity, Chorea, De...	ORPHA:309271
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Distal sensory impairment	OMIM:608895
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubinemia...	OMIM:614300
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Babinski sign, Hypertonia, Hepatomegaly, Elevated circulating hepatic transaminase...	OMIM:264470
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Lo...	ORPHA:435651
Metachromatic Leukodystrophy, Juvenile Form	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Decerebrate rigidity, Spastici...	ORPHA:309263
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio...	OMIM:619386
Squalene Synthase Deficiency	Hypospadias, Optic nerve hypoplasia, Increased circulating farnesol concentration, Elbow flexion ...	OMIM:618156
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Decreased sensory nerve conduction velocity, Hyperechogenic...	ORPHA:456312
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Difficulty walking, Distal sensory impairment, Vocal cord pa...	ORPHA:600
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Arthritis, Tremor, Mildly elevated creatine kinase, Mitochon...	ORPHA:397744
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Increased intraabdominal fat, Lipodystrophy, Polycystic ovari...	ORPHA:79085
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Tip-toe gait, Steppage gait, Distal sensory impairment, Fasciculations, Impaired distal vibration...	OMIM:614436
Leukodystrophy, Hypomyelinating, 2	Optic atrophy, Babinski sign, Progressive spasticity, Facial palsy, Intention tremor, Head tituba...	OMIM:608804
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly...	OMIM:619013
Patent Ductus Venosus	Decreased liver function, Hyperammonemia, Hypergalactosemia, Hepatic steatosis	OMIM:601466
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Panniculitis, Hepatocellular carcinoma, Cholestasis, Bronchiec...	ORPHA:60
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Charcot-Marie-Tooth Disease And Deafness	Steppage gait, Distal sensory impairment, Tremor, Gait disturbance, Decreased motor nerve conduct...	OMIM:118300
Spinal Muscular Atrophy, X-Linked 2	Decreased compound muscle action potential amplitude, Hypospadias, Inguinal hernia, Multiple join...	OMIM:301830
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormal nerve conduction velocity, Impaired pain sensation, Increased body...	OMIM:182290
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Abnormality of visual evo...	OMIM:256600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Elevated circulating hepatic transaminase concentration, Inability to walk, H...	OMIM:615356
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Biliary cirrhosis, Splenomega...	ORPHA:186
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Impaired proprioception, Progressive cerebellar ataxia, Delaye...	OMIM:277460
Leukodystrophy, Hypomyelinating, 5	Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In...	OMIM:610532
X-Linked Agammaglobulinemia	Chronic otitis media, Hypocalcemia, Arthritis, Skin rash, Sinusitis, Failure to thrive, Recurrent...	ORPHA:47
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Dystonia 31	Abnormal posturing, Difficulty walking, Parkinsonism	OMIM:619565
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:214950
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase c...	ORPHA:415
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased intramuscu...	OMIM:151660
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating he...	ORPHA:264580
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration, Congenit...	OMIM:615368
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity	OMIM:605253
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Decreased compound muscle action potential amplitude, Facial palsy, Waddling gait, Elevated circu...	OMIM:603511
Autosomal Dominant Spastic Paraplegia Type 17	Spastic gait, Babinski sign, Distal sensory impairment, Abnormal motor nerve conduction velocity,...	ORPHA:100998
Primary Lateral Sclerosis, Juvenile	Spastic gait, Babinski sign, Spastic dysarthria, Decreased compound muscle action potential ampli...	OMIM:606353
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor...	OMIM:606002
Ataxia, Sensory, 1, Autosomal Dominant	Babinski sign, Gait instability, worse in the dark, Impaired distal proprioception, Positive Romb...	OMIM:608984
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal nerve conduction velocity, Rhinitis, Splenomegaly, Abnormal pyramidal sign...	ORPHA:93476
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Flexion contracture of toe, Chorea, Finger joint contracture, Intention tremor, Ataxia, Abnormal ...	ORPHA:48431
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Cereb...	OMIM:208920
Hypertrophic Neuropathy Of Dejerine-Sottas	Steppage gait, Decreased sensory nerve conduction velocity, Distal sensory impairment, Broad-base...	OMIM:145900
Wilson Disease	Portal fibrosis, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Acute...	OMIM:277900
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Distal sensory impairment, Foot osteomyelitis, Tongu...	OMIM:162400
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ...	OMIM:255120
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia	OMIM:247800
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Difficulty walking, Elevated circulating hepatic transaminase concentration...	ORPHA:98907
3-Methylglutaconic Aciduria, Type V	Optic atrophy, Hypospadias, Microvesicular hepatic steatosis, Elevated circulating alanine aminot...	OMIM:610198
Griscelli Syndrome	Abnormal circulating lipid concentration, Hepatomegaly, Jaundice, Spasticity, Ataxia, Splenomegal...	ORPHA:381
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hyponatremia, Decreased circulating cortisol level, Hepatitis	ORPHA:199296
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Sinusitis, Failure to thrive, Cellulitis, Conjunctivi...	ORPHA:33110
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Abnormal motor neuron morphology, Fascic...	ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hepatic steatosis, Limb hypertonia, Hyperalaninemia	OMIM:615918
Immunodeficiency 52	Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph...	OMIM:617514
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Babinski sign, Decreased sensory nerve conduction velocity, Cerebellar atrophy, Sensory ataxia, G...	OMIM:616192
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Lipoatrophy, Hepatomegaly, Pancreatitis, Loss of subcutaneous adipose tissu...	ORPHA:2348
Graft Versus Host Disease	Gastrointestinal inflammation, Dupuytren contracture, Jaundice, Elevated circulating hepatic tran...	ORPHA:39812
Classic Pantothenate Kinase-Associated Neurodegeneration	Tip-toe gait, Abnormal posturing, Inability to walk, Spasticity, Aspiration pneumonia, Gait distu...	ORPHA:216866
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Chronic hepatitis, Failure to thrive, Decreased circulating iron concent...	OMIM:614602
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp...	OMIM:617093
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circ...	OMIM:605911
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul...	ORPHA:65684
Metachromatic Leukodystrophy	Tip-toe gait, Decreased nerve conduction velocity, Abnormal circulating enzyme concentration or a...	ORPHA:512
Cednik Syndrome	Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia, Hypogonadism	ORPHA:66631
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased amplitude of sensory action potentials, Distal sensory impairment	OMIM:608673
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Osteoarthritis, Elevated transferrin saturation, Increased circulating f...	OMIM:606069
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Impaired proprioception, Broad-based ...	OMIM:609033
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Pancreatitis, Loss of facial adipose ...	ORPHA:79083
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Acute Disseminated Encephalomyelitis	Myelitis, EEG with focal slow activity, Herpes simplex encephalitis, Optic neuritis, EEG with foc...	ORPHA:83597
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Diaphragmatic paralysis, Failure to thrive, Camptodactyly of...	OMIM:604320
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Steppage gait, Difficulty walking, Distal sensory impa...	OMIM:604563
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Difficulty walking, Chronic pancreatitis, Elevated circulating hepatic tran...	OMIM:610717
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Prolonged neonatal jaundice, Ataxia, Palatal tremor, Optic atrophy, Babinski ...	ORPHA:909
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir...	OMIM:618528
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hepatomegaly, Pancreatitis, Polycystic ovaries, Hepatic steatosis	ORPHA:79084
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Wrist flexion contracture, Distal sensory impairment, Impaired distal vibration sensation, Decrea...	OMIM:619519
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Elevated circulating hepatic transaminase concen...	ORPHA:71212
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Chorea, Cerebellar atrophy, Hyperammonemia, Failure to thrive, ...	OMIM:616672
Beta-Thalassemia	Abnormality of iron homeostasis, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis, Hypogonad...	ORPHA:848
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ...	OMIM:614921
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Oromotor apraxia, Tremor, Failure to thr...	ORPHA:300536
Infantile Neuroaxonal Dystrophy	Optic atrophy, Spasticity, Progressive spasticity, Cerebellar atrophy, Abnormal autonomic nervous...	ORPHA:35069
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Failu...	OMIM:614582
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:613404
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Babinski sign, Steppage gait, Difficulty walking, Distal sensory impairment, Decreased compound m...	OMIM:618279
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:208085
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin...	OMIM:261515
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Decreased circulating carnitine concentration, Microvesicular hepatic steatosis, Re...	OMIM:212140
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Pericarditis, Hyponatremia, Ataxia, Splenomegaly, Endocardit...	ORPHA:549
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Perianal abscess, Jaundice, Increased circulating chylomicron concentration...	ORPHA:444490
Complement Component 4B Deficiency	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis	OMIM:614379
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Hepatomegaly, Elevated circulating hepatic...	ORPHA:829
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment	OMIM:607734
Amyotrophic Lateral Sclerosis 21	Decreased nerve conduction velocity, Distal sensory impairment, Abnormal upper motor neuron morph...	OMIM:606070
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormal mitochondrial shape,...	ORPHA:485421
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment	OMIM:118220
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Reduced...	OMIM:261680
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased sensory nerve conduction velocity, Spastic paraplegia, Failure to thrive in infancy, Fl...	OMIM:619026
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced tissue carnitine O...	ORPHA:228305
Charcot-Marie-Tooth Disease Type 1E	Steppage gait, Difficulty walking, Decreased nerve conduction velocity, Inability to walk, Gait i...	ORPHA:90658
Friedreich Ataxia	Limb ataxia, Optic atrophy, Decreased sensory nerve conduction velocity, Babinski sign, Impaired ...	OMIM:229300
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Steatorrhea, Inguinal hernia, Cholestasis, Portal hypertension, Flexio...	ORPHA:440713
Friedreich Ataxia	Limb ataxia, Optic atrophy, Babinski sign, Impaired proprioception, Gait imbalance, Inability to ...	ORPHA:95
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Optic atrophy, Joint contracture, Abnormal pyramidal sign, Decreased motor nerve conduction veloc...	OMIM:615419
Multifocal Motor Neuropathy	Fasciculations, Motor conduction block, Ganglioside accumulation	ORPHA:641
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, S...	ORPHA:294
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Impaired proprioception, Truncal titubation, Positive Romberg sign, Impaired vibration sensation ...	ORPHA:88628
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Aganglionic megacolon, Distal sensory impairment, Torticolli...	OMIM:609136
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepa...	ORPHA:75234
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Prolonged neonatal jaundice, Ataxia, Acute hepatic failure, Micronodular cirrhosis, ...	OMIM:256810
Peroxisome Biogenesis Disorder 4B	Decreased liver function, Optic atrophy, Decreased nerve conduction velocity, Hepatomegaly, Gait ...	OMIM:614863
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Elevated circulatin...	ORPHA:64753
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Babinski sign, Chorea, Hypergonadotropic hypogonadism, Decreased testicular size, Ataxia, Decreas...	OMIM:604168
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity, Distal sensory impairment, Broad-based gait, Gait ataxia, Fa...	OMIM:616652
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler...	OMIM:619662
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity	OMIM:608236
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis	ORPHA:79087
Charcot-Marie-Tooth Disease, Type 4A	Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Distal s...	OMIM:214400
Avian Influenza	Elevated circulating hepatic transaminase concentration, Myelitis, Elevated circulating C-reactiv...	ORPHA:454836
Charcot-Marie-Tooth Disease Type 2B1	Steppage gait, Distal sensory impairment, Inability to walk, Decreased amplitude of sensory actio...	ORPHA:98856
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Lower limb spasticity	OMIM:615119
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im...	OMIM:601596
Ataxia-Oculomotor Apraxia 4	Oculomotor apraxia, Tetraplegia, Cerebellar atrophy, Obesity, Ataxia, Elevated circulating alpha-...	OMIM:616267
Warburg Micro Syndrome 4	Optic atrophy, Babinski sign, Inability to walk, Small scrotum, Cerebellar atrophy, Decreased tes...	OMIM:615663
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Difficulty walking, Chronic pancreatitis, Elevated circulating hepatic tran...	ORPHA:98908
Alg12-Cdg	Elevated circulating hepatic transaminase concentration, Hypospadias, Abnormal adipose tissue mor...	ORPHA:79324
Cockayne Syndrome Type 1	Optic atrophy, Scarring, Difficulty walking, Elevated circulating hepatic transaminase concentrat...	ORPHA:90321
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Cerebellar atrophy, Elevated circulating creatine kinase concentration,...	OMIM:619405
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch...	ORPHA:412
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Hepatitis	ORPHA:363523
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Wrist flexion contracture, Elevated circulating creatine kin...	OMIM:618733
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment	OMIM:118200
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Abnormal posturing, Methylmalonic acidemia, Inguinal hern...	OMIM:614857
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Cachexia, Splenomegaly, Abnormal blood i...	ORPHA:37042
Immunodeficiency By Defective Expression Of Mhc Class Ii	Acute otitis media, Sclerosing cholangitis, Skin rash, Chronic mucocutaneous candidiasis, Gait at...	ORPHA:572
Idiopathic Copper-Associated Cirrhosis	Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea...	ORPHA:209919
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple...	ORPHA:171
Aicardi-Goutieres Syndrome 9	Optic atrophy, Hypertonia, Hepatomegaly, Elevated circulating hepatic transaminase concentration,...	OMIM:619487
Lethal Ataxia With Deafness And Optic Atrophy	Optic atrophy, Hypouricemia, Tetraplegia, Abnormal erythrocyte enzyme concentration or activity, ...	ORPHA:1187
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Cimdag Syndrome	Pontocerebellar atrophy, Hepatomegaly, Cholelithiasis, Cerebellar vermis hypoplasia, Microvesicul...	OMIM:619273
Bacterial Toxic-Shock Syndrome	Myocarditis, Fasciitis, Elevated circulating creatinine concentration, Myositis, Arthritis, Skin ...	ORPHA:36234
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Pannicul...	ORPHA:79086
Neuropathy, Congenital Hypomyelinating, 3	Babinski sign, Cachexia, Spasticity, Facial diplegia, Cerebellar atrophy, Limb joint contracture,...	OMIM:618186
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elev...	OMIM:613327
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
19P13.12 Microdeletion Syndrome	Hypospadias, Hyperlipidemia, Arthrogryposis multiplex congenita, Precocious puberty, Obesity, Apl...	ORPHA:254346
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Steatorrhea, Hepatomegaly, Cerebellar atrophy, Failure to thrive, Achilles tendon contracture, At...	OMIM:616263
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In...	ORPHA:53693
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Hyperuricemia, Hashimoto thyroiditis, Hyponatremia, Decreased circulatin...	ORPHA:199299
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute h...	OMIM:615438
Immunodeficiency 76	B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia	OMIM:619164
Bardet-Biedl Syndrome 19	Obesity, External genital hypoplasia, Hepatic steatosis, Hypogonadism	OMIM:615996
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Vocal cord paralysis, Knee flexion contracture, Decreased mo...	OMIM:615490
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Paresthesia, Cholestasis, Abnormal testis morphology, Preco...	ORPHA:562
Immunodeficiency 56	Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Failure to thrive, Recurrent pneu...	OMIM:615207
Cockayne Syndrome	Elevated circulating hepatic transaminase concentration, Cachexia, Cerebellar atrophy, Cerebellar...	ORPHA:191
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Erythroderma, Recu...	ORPHA:169160
Cockayne Syndrome A	Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Tremor, Cerebellar atrophy, Abn...	OMIM:216400
Aicardi-Goutieres Syndrome 7	Hypertonia, Hepatomegaly, Limb hypertonia, Lower limb spasticity, Tetraparesis, Arthritis, Skin r...	OMIM:615846
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Decreased nerve conduction velocity, Periodontitis, Tremor, Recurrent bac...	OMIM:214500
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Stomatitis, Enterovira...	OMIM:308230
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Babinski sign, Hypertonia, Inability to walk, Torticollis, Tremor, Facial pal...	OMIM:128100
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Optic atrophy, Elevated circulating hepatic transaminase concentration,...	OMIM:618329
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Pancrea...	ORPHA:280365
X-Linked Charcot-Marie-Tooth Disease Type 2	Babinski sign, Steppage gait, Distal sensory impairment, Optic neuropathy, Gait disturbance, Decr...	ORPHA:101076
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:607831
Obesity And Hypopigmentation	Obesity, Hepatic steatosis	OMIM:620195
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Thyroiditis, Skin rash, Pus...	ORPHA:139402
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Difficulty walking, Inability to walk, Impaired pain sensation, Tongue fasciculati...	ORPHA:99949
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Reduced tissue carnitine O-palmitoyltransferase 2 activity, Cerebellar vermis hypop...	ORPHA:228308
Congenital Enterovirus Infection	Myocarditis, Skin rash, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatitis, Infectious encep...	ORPHA:292
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypercholestero...	OMIM:300972
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Steppage gait, Distal sensory impairment, Positive Romberg sign, Abnormality of vi...	OMIM:601152
Cockayne Syndrome B	Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Severe failure to thrive, Cereb...	OMIM:133540
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	ORPHA:99901
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:203800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Decreased circulating carnitine concentration, Necrotizing ent...	OMIM:201475
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:562639
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Liver Failure, Infantile, Transient	Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos...	OMIM:613070
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Hand paresthesia, Distal sensory impairment, Impaired pain sensation, Impaired vibration sensatio...	OMIM:613640
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Cholangitis, Thyroiditis, Portal hypertension, Camptodactyly, Hepatosplenomegaly, Acut...	ORPHA:228426
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Babinski sign, Bradykinesia, Progressive extrapyramidal muscular rigidity, Ch...	ORPHA:225147
Japanese Encephalitis	Opisthotonus, Myoclonus, Abnormal pons morphology, Weakness due to upper motor neuron dysfunction...	ORPHA:79139
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Portal hypertension, Camptodactyly, Hashimoto thyroiditis, Splenomegaly, Failure to...	OMIM:613385
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis, Penile freckling	ORPHA:210548
Scheie Syndrome	Hepatomegaly, Abnormal nerve conduction velocity, Cerebral palsy, Rhinitis, Splenomegaly, Spastic...	ORPHA:93474
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Cerebellar atrophy, Ataxia, Hypogonadism	OMIM:610651
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Cerebellar atrophy, Bifid scrotum, Splenomegaly, Small scrotum, Septat...	OMIM:270400
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Steppage gait, Abnormal female external genitalia morphology, Hypoplasia of t...	ORPHA:168563
Hereditary Sensory And Autonomic Neuropathy Type 1	Steppage gait, Distal sensory impairment, Inability to walk, Gait imbalance, Trophic changes rela...	ORPHA:36386
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Hyperlipidemia, Hyperaldosteronism, Acne, Dorsocervical fat pad, Abdominal...	ORPHA:189427
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Increased circulating ferritin concentratio...	OMIM:194380
Aromatase Deficiency	Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo...	ORPHA:91
Digital Extensor Muscle Aplasia-Polyneuropathy	Impaired pain sensation, Camptodactyly of finger, Abnormal nerve conduction velocity	ORPHA:2926
3-Methylglutaconic Aciduria Type 7	Hypertonia, Elevated circulating hepatic transaminase concentration, Abnormality of extrapyramida...	ORPHA:445038
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Steatorrhea, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asplenia, Chroni...	OMIM:269200
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Tongue fasciculations, Flexion contracture	OMIM:619851
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla...	OMIM:610199
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Fasciculations, Cerebellar atrophy, Congenital finger flexion contractures, Flexion contracture o...	ORPHA:466768
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Failure to thrive in infancy, Decreased nerve conduction velocity, Distal sensory impairment, Bro...	ORPHA:477817
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Hepatomegaly, Elevated circulating hepatic transamin...	OMIM:615273
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Spasticity, Tremor	OMIM:304700
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:269700
Autosomal Recessive Spastic Paraplegia Type 25	Spastic paraplegia, Abnormality of peripheral nerve conduction, Paraparesis	ORPHA:101005
Aspergillosis	Bronchiectasis, Sinusitis, Osteomyelitis, Keratitis, Pneumonia, Hepatitis, Infectious encephalitis	ORPHA:1163
Indifference To Pain, Congenital, Autosomal Recessive	Impaired proprioception, Abnormal nerve conduction velocity, Impaired temperature sensation, Impa...	OMIM:243000
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D...	OMIM:619846
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Limb ataxia, Optic atrophy, Babinski sign, Increased hepatic glycogen content, Truncal ataxia, Dy...	OMIM:619259
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Biliary tract abnormality, Failu...	OMIM:209920
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Accessory spleen, Micro...	OMIM:619418
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Intraalveolar phospholipid accumulation, Cholestasis, Elevated circulati...	OMIM:615486
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Hepatomegaly, Elevated circulating h...	OMIM:212138
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr...	OMIM:619802
Q Fever	Myocarditis, Pneumonia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pe...	ORPHA:781
Combined Oxidative Phosphorylation Deficiency 12	Bradykinesia, Babinski sign, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Spastic...	OMIM:614924
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Arthritis, Eczematoid dermatitis, Failure to thrive, Erythroderma, Hepatitis, Glomerulonephritis	OMIM:304790
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph...	ORPHA:169154
Lysosomal Acid Lipase Deficiency	Decreased liver function, Xanthelasma, Hypertriglyceridemia, Jaundice, Elevated circulating hepat...	ORPHA:275761
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated circulating hepatic transaminase concentration, Oculomotor apraxia, Hypotriglyceridemia,...	ORPHA:404454
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co...	OMIM:201300
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E...	OMIM:124000
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Elevated circulating hepatic transaminase concentration, Perineal hypospadias, Low...	ORPHA:66634
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced ...	ORPHA:90363
Melioidosis	Pneumonia, Liver abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Splenic ab...	ORPHA:31202
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma,...	ORPHA:2088
Chanarin-Dorfman Syndrome	Hepatic steatosis, Hepatomegaly, Ataxia	OMIM:275630
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Action tremor, Rigidity, Splenomegaly, M...	ORPHA:309854
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Spastic hemipare...	ORPHA:20
Microsporidiosis	Cachexia, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Abnormal e...	ORPHA:2552
Myasthenic Syndrome, Congenital, 25, Presynaptic	Flexion contracture, Decreased compound muscle action potential amplitude	OMIM:618323
3-Methylglutaconic Aciduria, Type Viib	Hyperkinetic movements, Spasticity, Tremor, Cerebellar atrophy, Recurrent pneumonia, Ataxia, Opis...	OMIM:616271
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Optic atrophy, Hepatomegaly, Spastic tetraparesis, Gait disturbance, Fa...	ORPHA:436271
Tangier Disease	Hypertriglyceridemia, Impaired temperature sensation, Facial diplegia, Hepatosplenomegaly, Hypoch...	ORPHA:31150
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hepatocellular carcinoma, Chronic hepatitis...	ORPHA:231226
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, Hypospadias, B...	ORPHA:2959
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Hyperchole...	ORPHA:79259
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Reduced cystathionine beta-synthase activity ...	OMIM:236200
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ...	OMIM:618986
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hepatomegaly, Elevated circulating C-reactive protein concentration, Minimal change glomeruloneph...	OMIM:620565
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:608836
Cryoglobulinemic Vasculitis	Hepatomegaly, Arthritis, Viral hepatitis, Splenomegaly, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Limb ataxia, Decreased distal sensory nerve action potential, Impaired pain sensation, Cerebellar...	OMIM:614575
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Reduced 3-methylcrotonyl CoA carboxylase activity in ...	OMIM:210200
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Spasticity, Cholestasis, Esophagitis, He...	ORPHA:541423
Seckel Syndrome 10	Hypertriglyceridemia, Acute pancreatitis, Elevated circulating alanine aminotransferase concentra...	OMIM:617253
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M...	OMIM:617156
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Micr...	OMIM:203700
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Babinski sign, Hypocalcemia, Chronic hepatic failure, Cholestasis, Frequent falls, ...	ORPHA:746
Lichen Planopilaris	Hepatitis	ORPHA:525
Hemochromatosis, Type 3	Neutropenia, Anemia, Lymphopenia	OMIM:604250
Gaucher Disease	Cirrhosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cholelithiasis, Elevated circul...	ORPHA:355
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Failure to thrive, Hypocholesterolemia, Optic disc pallor, Hypoplastic labi...	OMIM:244450
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida...	OMIM:226990
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Distal sensory impairm...	ORPHA:320375
Postinfectious Vasculitis	Gastrointestinal inflammation, Elevated circulating C-reactive protein concentration, Abnormality...	ORPHA:48435
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypertonia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Methylmalonic ...	ORPHA:17
Osteootohepatoenteric Syndrome	Portal fibrosis, Increased serum bile acid concentration, Hypokalemia, Microvesicular hepatic ste...	OMIM:619377
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Liver abscess, Recurrent otitis media, Cholangitis, Chronic gastritis, Skin rash, Arthritis, Vira...	ORPHA:183675
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating C-reactive protei...	OMIM:619573
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal vagina morphology, Abnormal dental enamel morphology, Skin rash, Hepatitis	ORPHA:1334
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypocalcemia, Hy...	ORPHA:26793
Rift Valley Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Decerebrate rigidity, Skin ras...	ORPHA:319251
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Splenom...	OMIM:308240
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Sinusitis, Fa...	ORPHA:83471
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Cholelithiasis, Chronic active hepatitis, Chronic mucocutaneous candidi...	OMIM:240300
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Spondyloenchondrodysplasia	Arthritis, Skin rash, Chorea, Spasticity, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis	ORPHA:1855
Mucopolysaccharidosis Type 7	Hepatitis, Splenomegaly, Inguinal hernia, Umbilical hernia	ORPHA:584
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis, Paresthesia	ORPHA:589
Bickerstaff Brainstem Encephalitis	Babinski sign, Impaired proprioception, Abnormal cranial nerve morphology, Tetraplegia, Dysesthes...	ORPHA:79138
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Hepatomegaly, Macrovesicular hepatic steatosis, Inability to walk, Nephritis, Recu...	OMIM:617303
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, T lymphocytopenia	ORPHA:277
Hurler Syndrome	Hepatomegaly, Abnormal nerve conduction velocity, Cerebral palsy, Camptodactyly of finger, Rhinit...	ORPHA:93473
Immunodeficiency 82 With Systemic Inflammation	Recurrent otitis media, Gastritis, Anoperineal fistula, Elevated circulating C-reactive protein c...	OMIM:619381
Immunodeficiency 40	Chronic oral candidiasis, Hepatomegaly, Macrovesicular hepatic steatosis, Recurrent otitis media,...	OMIM:616433
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym...	ORPHA:348
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Pearson Syndrome	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypokalemia, ...	ORPHA:699
Acute Liver Failure	Jaundice, Elevated circulating hepatic transaminase concentration, Incoordination, Skin rash, Hep...	ORPHA:90062
Dubowitz Syndrome	Hypospadias, Inguinal hernia, Eczematoid dermatitis, Otitis media, Hypocholesterolemia, Cryptorch...	OMIM:223370
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis	ORPHA:977
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Optic atrophy, Hepatomegaly, Truncal ataxia, Failure to thrive, Ataxia,...	OMIM:220110
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Bifid scrotum, Cerebral palsy, Head titu...	OMIM:619475
Simple Cryoglobulinemia	Arthritis, Spontaneous pain sensation, Viral hepatitis, Pericarditis, Nephritis, Weight loss, Mem...	ORPHA:91139
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis, Decreased 3-hydroxyacyl-CoA dehyd...	OMIM:231530
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Zygomycosis	Myocarditis, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumonia, Abnormal cranial ner...	ORPHA:73263
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Primary Sjögren Syndrome	Vaginal dryness, Arteritis, Chronic active hepatitis, Myositis, Optic neuritis, Thyroiditis, Arth...	ORPHA:289390
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Hepatomegaly, Tongue fasciculations, Myoclonus, Hepatic steatosis	OMIM:614922
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ing...	OMIM:613658
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Hepatic periportal necrosis, Elevated circulating glutaric acid concentra...	OMIM:231680
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Cirrhosis, Hepatomegaly, Lower limb spasticity, Knee flexion contractu...	OMIM:300868
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentration, Pancreatit...	ORPHA:3260
Poliomyelitis	Hyperkinetic movements, Myelitis, Inability to walk, Fasciculations, Paraparesis, Abnormal motor ...	ORPHA:2912
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Maculopapular exanthema	ORPHA:319218
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy...	OMIM:619991
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto...	ORPHA:3226
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia, Enterocolitis, Psoriasiform dermatitis, Interface hepatitis	OMIM:243150
Alström Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormali...	ORPHA:93111
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Tubulointerstitial nephritis, Hypergonadotro...	ORPHA:227990
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, E...	ORPHA:110
Kawasaki Disease	Myocarditis, Cheilitis, Jaundice, Elevated circulating C-reactive protein concentration, Arthriti...	ORPHA:2331
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Enteroviral hepatitis, Sinusitis, Epidi...	OMIM:307200
Cirrhosis, Familial	Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Biliary c...	OMIM:215600
Choreoacanthocytosis	Chorea, Abnormal erythrocyte enzyme concentration or activity, Abnormal autonomic nervous system ...	ORPHA:2388
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Tubulointerstitial nephritis, Hypergonadotro...	ORPHA:227982
Mucopolysaccharidosis Type 2	Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Hip osteoarthritis, Inguinal he...	ORPHA:580
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Difficulty walking, Decreased compound muscle action potential amplitude, Clonus, ...	OMIM:602433
Bloom Syndrome	Azoospermia, Malar rash, Elevated hemoglobin A1c, Bronchiectasis, Cryptorchidism, Hepatic steatos...	OMIM:210900
Monosomy 13Q34	Hypercalcemia, Obesity, Hepatic steatosis	ORPHA:96168
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Abnormality of peripheral nerve conduction, Splenomegaly	ORPHA:585
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Gastritis, Recurrent aphthous stomatitis, Panniculitis, Thyroiditis, Colitis, Hepat...	ORPHA:3261
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Cerebellar cortical atrophy, Azotemia, Hypoplasia of the ovary, Optic nerve hypopl...	OMIM:619321
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia	OMIM:619752
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia	OMIM:619767
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Action tremor, Ataxia, Hepatic steatosis, Optic atrophy, Hyper...	ORPHA:3455
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:229600
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Relapsing Polychondritis	Myocarditis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Arthritis, Episc...	ORPHA:728
Leptospirosis	Jaundice, Hepatomegaly, Optic neuritis, Skin rash, Pericarditis, Papilledema, Elevated serum tran...	ORPHA:509
Arima Syndrome	Optic atrophy, Cirrhosis, Hepatomegaly, Cerebellar vermis hypoplasia, Dilated fourth ventricle, A...	OMIM:243910
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic...	OMIM:300835
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Prostatitis, Hepatocellular carcinoma, Enteroviral hepatitis, B...	OMIM:300755
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Bronchiectasis, Clonus, Osteoarthritis, Decreased compound muscle action potential amplitude	OMIM:620080
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Vici Syndrome	Abnormal posturing, Cerebellar vermis hypoplasia, Chronic mucocutaneous candidiasis, Elevated cir...	OMIM:242840
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Mitochondrial Complex I Deficiency, Nuclear Type 20	Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepati...	OMIM:611126
Occipital Horn Syndrome	Scarring, Jaundice, Inguinal hernia, Cholestasis, Esophagitis, Femoral hernia, Atypical scarring ...	ORPHA:198
Sandifer Syndrome	Abnormal posturing, Torticollis, Esophagitis, Hiatus hernia	ORPHA:71272
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr...	ORPHA:276
Relapsing Fever	Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia	ORPHA:91547
Cockayne Syndrome Type 3	Difficulty walking, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Optic ...	ORPHA:90324
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Thyroiditis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Enterocolitis, Inflammator...	ORPHA:391487
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Omphalocele, Hashimoto thyroiditis, Psoriasiform dermatitis, Abnormal ductus ...	ORPHA:436252
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Unilateral Polymicrogyria	Abnormal posturing, Poor fine motor coordination, Involuntary movements, Hemiparesis, Giant somat...	ORPHA:268943
Garg-Mishra Progeroid Syndrome	Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis	OMIM:620601
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent otitis media, El...	OMIM:619525
1P36 Deletion Syndrome	Optic atrophy, Annular pancreas, Abnormal female external genitalia morphology, Hypospadias, Hypo...	ORPHA:1606
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Inguinal hernia, Cerebellar vermis hypoplasia, Truncal ataxia, Microvesicular hepati...	OMIM:220111
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally low T cell recept...	OMIM:602450
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi...	OMIM:618935
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macr...	OMIM:619127
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Tetraplegia, Unconjugated hyperbilirubinemia, Hep...	OMIM:618278
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Cholestasis, Unicornuate uterus, EEG abnormality, Hepatic steatosis, Tip-to...	OMIM:619503
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reac...	ORPHA:319213
Atypical Werner Syndrome	Hypertriglyceridemia, Lipoatrophy, Generalized lipodystrophy, Ovarian neoplasm, Decreased body we...	ORPHA:79474
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Neutrophilia, Brain abscess	ORPHA:54251
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Inguinal hernia, Genital hernia, Abnormal autonomic nervous ...	ORPHA:285
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti...	OMIM:600802
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphopenia, Neutropenia	ORPHA:508542
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphopenia	OMIM:617827
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Lymphopenia	OMIM:620365
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia	ORPHA:293173
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of peripheral nerve conduction, Difficulty walking, Distal sensory impairment, Impair...	ORPHA:642
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph...	OMIM:102700
Ogden Syndrome	Hypertonia, Jaundice, Macrovesicular hepatic steatosis, Recurrent otitis media, Torticollis, Ingu...	OMIM:300855
Digeorge Syndrome	Recurrent otitis media, Cholelithiasis, Inguinal hernia, Hypocalcemia, Seborrheic dermatitis, Fem...	OMIM:188400
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Recurrent otitis media, Elev...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Recurrent otitis media, Elev...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Recurrent otitis media, Elev...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Recurrent otitis media, Elev...	ORPHA:99226
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Optic neuropathy, Hepatic steatosis, Hyp...	ORPHA:391665
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Friedreich Ataxia 2	Babinski sign, Decreased pyruvate carboxylase activity, Incoordination, Abnormal medulla oblongat...	OMIM:601992
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Refsum Disease, Classic	Elevated circulating phytanic acid concentration, Reduced phytanic acid oxidase activity in cultu...	OMIM:266500
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Refsum Disease	Abnormal pyramidal sign, Hemiplegia/hemiparesis, Ataxia, Splenomegaly	ORPHA:773

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	Life Stage
Testis - MPATH pathological process term spermatogenesis defect	Phyh^{tm1b(EUCOMM)Wtsi}	HOM	Early adult
Testis - MPATH pathological process term dysplasia	Phyh^{tm1b(EUCOMM)Wtsi}	HOM	Early adult
Bone marrow - MPATH pathological process term hyperplasia	Phyh^{tm1b(EUCOMM)Wtsi}	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 Phyh.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.	NPJ systems biology and applications (May 2021)	Phyh^{tm1c(EUCOMM)Wtsi}	PMC8163790

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
Phyh^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Phyh^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Phyh^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Phyh^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

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: Phyh MGI:891978

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

X-ray

Gross Pathology and Tissue Collection

Eye Morphology

X-ray

X-ray

Histopathology

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Phyh mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data