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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	System	Allele	Zyg	Sex	Life Stage	P Value
decreased lymphocyte cell number		Phyh^{tm1b(EUCOMM)Wtsi}	HOM		Early adult	8.98×10^-12
increased neutrophil cell number		Phyh^{tm1b(EUCOMM)Wtsi}	HOM		Early adult	9.51×10^-14

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

5 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

4 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

4 Images

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Eye Morphology

Images Ophthalmoscopy

10 Images

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Immunophenotyping

Panel B FCS file(s)

5 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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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 (607 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		Somatic sensory dysfunction, Elevated circulating phytanic acid concentration, Ataxia, Decreased ...	OMIM:266500
Refsum Disease		Splenomegaly, Ataxia, Abnormal pyramidal sign, Hemiplegia/hemiparesis	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	Elevated hepatic transaminase, Decreased distal sensory nerve action potential, Gait disturbance,...	OMIM:618400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Hepatomegaly, Clonus, Decreased nerve conduction velocity, Poor coo...	OMIM:238970
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Decreased motor nerve conduction velocity, Impaired vibratory sensation, Atax...	OMIM:607250
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Broad-based gait, Elevated circulating creatine kinase concentration, Impaired pain sensation, De...	ORPHA:435387
X-Linked Charcot-Marie-Tooth Disease Type 6	Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Impaired...	ORPHA:352675
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:610717
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,...	OMIM:618912
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi...	ORPHA:276435
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Extremely elevated creatine kinase, Somatic sensory dysfunction, Decreased nerve conduction veloc...	ORPHA:99939
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment...	OMIM:615376
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity...	OMIM:618404
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase...	OMIM:615703
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi...	OMIM:601098
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ...	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	Somatic sensory dysfunction, Decreased nerve conduction velocity, Unsteady gait, Motor conduction...	ORPHA:2932
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Ankle flexion contracture, Decreased nerve conduction ...	OMIM:611228
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega...	OMIM:300635
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Charcot-Marie-Tooth Disease Type 4A	Impaired distal proprioception, Decreased nerve conduction velocity, Inability to walk, Impaired ...	ORPHA:99948
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Myoclonus, Hypocholesterolemia, Intention tremor	OMIM:610539
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Hereditary Motor And Sensory Neuropathy V	Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Distal sensory...	OMIM:600361
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, O...	ORPHA:280234
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coord...	ORPHA:363400
Autosomal Recessive Spastic Paraplegia Type 21	Abnormal cerebellum morphology, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapy...	ORPHA:101001
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia...	ORPHA:98890
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Somatic sensory dysfunct...	ORPHA:3115
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Flexion contract...	OMIM:609260
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance	ORPHA:101078
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibratio...	OMIM:159550
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Decreased motor nerve conduction velocity, Achilles tendon contracture, Abolished vibration sense...	OMIM:620068
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Failure to thrive in infancy, Elevated circulating aspartate aminotransferase...	OMIM:611182
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Difficult...	OMIM:608323
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg...	OMIM:612526
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Elevated circulating phytanic acid...	OMIM:266510
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Distal sensory impairment, Sensory ataxia, Gait distur...	ORPHA:101081
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13	Decreased compound muscle action potential amplitude, Babinski sign, Difficulty walking, Frequent...	OMIM:619112
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J	Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment	OMIM:620111
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Abnormal circulating enzym...	ORPHA:206443
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Decreased motor nerve conduction velocity, Claw hand deformity, Distal sensory impairment, Steppa...	OMIM:606595
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar...	OMIM:615558
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Foot joint contracture, Decreased nerve conduction velocity, Inability to walk, Cryptorchidism, O...	ORPHA:457205
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception...	OMIM:616688
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2	Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment	OMIM:302801
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Impaired proprioception, ...	ORPHA:71
Chylomicron Retention Disease	Impaired vibratory sensation, Failure to thrive, Decreased LDL cholesterol concentration, Steator...	OMIM:246700
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdia...	OMIM:618356
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen...	DECIPHER:29
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk...	ORPHA:101077
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Impaired distal proprioception, Decreased nerve conduction velocity...	ORPHA:101097
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ...	OMIM:603516
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Steppage gait, Im...	OMIM:610100
Cataract-Ataxia-Deafness Syndrome	Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor	ORPHA:1368
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Charcot-Marie-Tooth Disease, Type 4H	Waddling gait, Decreased motor nerve conduction velocity, Hypoesthesia, Unsteady gait, Distal sen...	OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Impai...	OMIM:607706
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity	ORPHA:101075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Decreased nerve conduction velocity, Elbow flexion contracture, Elevated circulati...	OMIM:618138
Ataxia-Deafness-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Decreased nerve conduction velocity, Ataxia	ORPHA:1188
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-...	OMIM:278000
Autosomal Recessive Spastic Paraplegia Type 57	Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Spasticity, Abnormality of p...	ORPHA:431329
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre...	ORPHA:905
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2	Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ...	OMIM:605726
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes...	OMIM:615980
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Hypergonado...	OMIM:613724
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased nerve conduction velocity, Gait ataxia, Impaired vibratio...	ORPHA:90103
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Opt...	ORPHA:98755
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Foot osteomyelitis, Somatic sensory dysfunction, Decre...	OMIM:600882
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking	OMIM:615575
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D	Decreased motor nerve conduction velocity, Steppage gait	OMIM:607678
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Tremor, Flexion contracture, Dysmetria, Hypoalbuminemia, Hepatic fi...	OMIM:212065
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Ataxia, EEG with abnormally slow frequenci...	ORPHA:70472
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant	Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle...	OMIM:616040
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesi...	OMIM:302800
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit...	ORPHA:90117
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Steppage gait, Facial palsy, Distal sensory impairment	OMIM:118210
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Somatic sensory dysfunction, Elevated circulating creatine k...	ORPHA:101082
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Elevated circulating alanine aminot...	OMIM:618805
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,...	ORPHA:14
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia	ORPHA:640
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Bab...	OMIM:612674
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Lo...	OMIM:270550
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, Sensory ataxia	OMIM:618184
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Polycystic ovaries, Progressive loss of facial adipose ...	OMIM:608709
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Paraparesis, Steppage gait, Distal sensory impairment	OMIM:302802
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Foot osteomyelitis, Clonus, Impaired pain sensation, S...	ORPHA:139578
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia	OMIM:620357
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Spinocerebellar Ataxia 1	Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb...	OMIM:164400
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity	ORPHA:139536
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Claw hand deformity, Paralysis, Distal sensory impairm...	OMIM:605285
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce...	OMIM:616834
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am...	OMIM:249900
Congenital Myopathy 10A, Severe Variant	Facial palsy, Elevated circulating creatine kinase concentration, Abnormal motor nerve conduction...	OMIM:614399
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decreased distal sensory...	ORPHA:99953
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Ataxia, Elevated circulating creatine kinase concentration, ...	ORPHA:1933
Spastic Paraplegia 17, Autosomal Dominant	Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Impaired dista...	OMIM:270685
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Lower limb spasticity, Abnormal circulating enzyme concentration or activity, ...	ORPHA:565624
Charcot-Marie-Tooth Disease, Type 4B3	Loss of ambulation, Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment	OMIM:615284
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Optic atrophy, Hypertonia, Failure to thrive, H...	ORPHA:26792
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Decreased nerve conduction velocity, Truncal obesity, Gait disturbance, Camptodactyly of finger	ORPHA:2928
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, ...	OMIM:612577
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,...	OMIM:603472
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Krabbe Disease	Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, Reduced galactocerebrosidase...	OMIM:245200
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal...	ORPHA:528
Charcot-Marie-Tooth Disease, Axonal, Type 2B2	Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:605589
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Broad-based gait, Gait ataxia, Distal sensory impairme...	OMIM:614895
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment	ORPHA:99944
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n...	ORPHA:99014
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas...	OMIM:601455
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Reduced leukocyte arylsulfatase A activity, Chorea, ...	OMIM:250100
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Inability to walk...	OMIM:218000
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased motor nerve conduction velocity, Hypogonadotropic hypogo...	ORPHA:298
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemiparesis, Splenomegaly, Recurrent otitis media, Hepatitis	ORPHA:444463
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Abetalipoproteinemia, Elevated circulating creatine kinase concentr...	ORPHA:96180
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Potocki-Lupski Syndrome	EEG abnormality, Failure to thrive, Small for gestational age, Hypocholesterolemia	OMIM:610883
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, EEG with focal sharp waves, Optic atr...	OMIM:617302
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis...	OMIM:601382
Sialidosis Type 1	Ataxia, Decreased nerve conduction velocity, Splenomegaly, Tremor, Slurred speech, EEG abnormalit...	ORPHA:812
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Micropenis, Hydrocele testis, Cerebellar hypoplasia, Hypocholesterolemia, Spasticity	OMIM:618810
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O...	ORPHA:101085
Triose Phosphate-Isomerase Deficiency	Decreased nerve conduction velocity, Diaphragmatic paralysis	ORPHA:868
Charcot-Marie-Tooth Disease, Recessive Intermediate B	Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Dista...	OMIM:613641
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Increased C-peptide level	OMIM:615238
Wild Type Abeta2M Amyloidosis	Decreased nerve conduction velocity, Dysesthesia, Tetraplegia, Arthritis, Paresthesia, Tetrapares...	ORPHA:85446
Squalene Synthase Deficiency	Failure to thrive in infancy, Optic nerve hypoplasia, Hypospadias, Increased circulating farnesol...	OMIM:618156
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Decreased motor nerve conduction velocity, Lower limb spasticity, Foot osteomyelitis, Clonus, Spa...	OMIM:256840
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia, ...	OMIM:162500
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit...	ORPHA:99950
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased plasma fre...	OMIM:619048
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Ankle flexion contracture, Decreased nerve conduction velocity, Choreoathetosis,...	ORPHA:319514
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Rec...	ORPHA:101330
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Upper limb postural tremor, Distal sensory impairment,...	OMIM:180800
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment	OMIM:605588
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:613287
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	ORPHA:42
Dpm1-Cdg	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated circulating cre...	ORPHA:79322
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Decreased nerve conduction velocity	OMIM:614932
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,...	OMIM:277900
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12	Decreased motor nerve conduction velocity	OMIM:614751
Macular Degeneration, Age-Related, 3	Decreased nerve conduction velocity, Distal sensory impairment	OMIM:608895
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Elevated circulating creatinine ...	OMIM:617872
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab...	OMIM:256600
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Fasciculations, Diffi...	ORPHA:329478
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Polycystic ovaries, Increased intraabdominal f...	ORPHA:79085
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Babinski si...	OMIM:264470
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, ...	ORPHA:369
Spinal Muscular Atrophy, X-Linked 2	Inguinal hernia, Multiple joint contractures, Hypospadias, Facial palsy, Elevated circulating cre...	OMIM:301830
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr...	ORPHA:309256
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Chédiak-Higashi Syndrome	Tremor, Periodontitis, Hyponatremia, Ataxia, Parkinsonism, Hepatosplenomegaly, Gait disturbance, ...	ORPHA:167
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im...	OMIM:614436
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Hepatomegaly, Decreased sensory nerve conduction veloc...	ORPHA:456312
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Rigidity, Babin...	OMIM:608804
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta...	OMIM:619386
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Tremor, Vocal cord paralysis, Arthritis, Mitochondrial swell...	ORPHA:397744
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait...	OMIM:118300
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv...	ORPHA:309271
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness,...	OMIM:277460
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal sensory...	ORPHA:600
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic...	OMIM:619013
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Waddling gait, Ataxia, Elevated ...	OMIM:615356
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis...	ORPHA:98907
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Abnormal circulating creatine...	ORPHA:369840
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	OMIM:151660
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Abnormal glycosphi...	ORPHA:309263
Dystonia 31	Abnormal posturing, Parkinsonism, Difficulty walking	OMIM:619565
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Decreased compou...	OMIM:603511
Autosomal Dominant Spastic Paraplegia Type 17	Postural tremor, Abnormal motor nerve conduction velocity, Babinski sign, Distal sensory impairme...	ORPHA:100998
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Impaired vibratory sensation, Speech apraxia, Clonus...	ORPHA:415
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology	OMIM:605253
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Elevated circulating creatine kina...	OMIM:606002
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Decreased nerve co...	OMIM:615368
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre...	OMIM:301045
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Broad-based gait, Impaired distal vibration sensation,...	OMIM:145900
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Hurler-Scheie Syndrome	Hepatomegaly, Splenomegaly, Abnormal pyramidal sign, Rhinitis, Hernia, Abnormal nerve conduction ...	ORPHA:93476
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, I...	OMIM:208920
3-Methylglutaconic Aciduria, Type V	Ataxia, Elevated circulating aspartate aminotransferase concentration, Hypospadias, Microvesicula...	OMIM:610198
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Impaired distal pro...	OMIM:162400
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration,...	ORPHA:52430
Griscelli Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Hepatitis, Spasticity, Abnormal circulating lipid c...	ORPHA:381
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Prolonged neonatal j...	ORPHA:199296
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Myositis, Maculop...	ORPHA:39812
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri...	ORPHA:33110
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Hypogonadotropic hypogonadism, Camptodactyly of finger, Abnormal pyramidal sign, Dysmetri...	ORPHA:48431
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Decreased motor nerve conduction velocity, Elevated hemoglobin A1c, Babinski ...	OMIM:616192
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho...	OMIM:614602
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul...	ORPHA:65684
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste...	OMIM:606069
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia, Limb hypertonia	OMIM:615918
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp...	ORPHA:79083
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Distal sensory impairment, Decreased amplitude of sensory action potentials	OMIM:608673
Cednik Syndrome	Hypogonadism, Optic atrophy, Ataxia, Abnormality of peripheral nerve conduction	ORPHA:66631
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Truncal titubation, Abnormal cerebellum morphology, Ba...	OMIM:610532
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Spasticity, Weight loss, Opisthotonus, Tip-toe gait, Gait d...	ORPHA:216866
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Acute Disseminated Encephalomyelitis	Interictal EEG abnormality, Viral hepatitis, Somatic sensory dysfunction, Ataxia, Involuntary mov...	ORPHA:83597
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Steppage gait, Difficulty walking, Distal sensory impa...	OMIM:604563
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Flexion contracture of finger, Ataxia, Optic atrophy, Impaired vibration sensat...	OMIM:609033
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Camptodactyly of finger, Decreased nerve conduction velocity, Diaphrag...	OMIM:604320
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Lipoatrophy, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:79084
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac...	ORPHA:829
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Wrist ...	OMIM:619519
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi...	OMIM:618279
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Microvesicular hepatic steatosis, Chorea, Multifocal epileptiform discharges,...	OMIM:616672
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Abnormality of iron homeost...	ORPHA:848
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Tremor, Oromotor apraxia, Failure to thrive, Hepati...	ORPHA:300536
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Decreased nerve co...	ORPHA:512
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accum...	OMIM:261515
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased hepatic glycogen content, Large for gestational age, Increased circula...	ORPHA:293964
Cerebrotendinous Xanthomatosis	Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Ataxia, Parkinsonism, Gait dist...	ORPHA:909
Legionnaires Disease	Hyponatremia, Pericarditis, Ataxia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis,...	ORPHA:549
Acromicric Dysplasia	Decreased nerve conduction velocity	ORPHA:969
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment	OMIM:607734
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic fa...	ORPHA:186
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Abnormal circulating enzym...	ORPHA:206436
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment	OMIM:118220
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat...	OMIM:606070
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Failure to thrive in infancy, Flexion contracture, Spa...	OMIM:619026
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, Optic atroph...	ORPHA:35069
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Decreased motor nerve conduction velocity, Cryptorchidism, Optic atrophy, Abnormal pyramidal sign...	OMIM:615419
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated...	ORPHA:64753
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Truncal titubation, Impaired vibration sensation in the lower limbs, Impai...	ORPHA:88628
Charcot-Marie-Tooth Disease Type 1E	Impaired temperature sensation, Decreased nerve conduction velocity, Inability to walk, Impaired ...	ORPHA:90658
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen...	ORPHA:444490
Multifocal Motor Neuropathy	Ganglioside accumulation, Motor conduction block, Fasciculations	ORPHA:641
Friedreich Ataxia	Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Optic atroph...	ORPHA:95
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Ataxia, Hypogonadotropic hypogonadism, Hypergonadotrop...	OMIM:604168
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Portal hypertens...	OMIM:609136
Warburg Micro Syndrome 4	Cerebellar atrophy, Decreased motor nerve conduction velocity, Small scrotum, Inability to walk, ...	OMIM:615663
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein ...	OMIM:616267
Yuan-Harel-Lupski Syndrome	Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Distal sensory...	OMIM:616652
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc...	ORPHA:98908
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity	OMIM:608236
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis	ORPHA:79087
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,...	OMIM:261680
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Decre...	OMIM:614863
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit...	ORPHA:79324
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen...	OMIM:619405
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Inability...	OMIM:214400
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Inability to walk, Distal sensory impairment, Steppage...	ORPHA:98856
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v...	ORPHA:485421
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Lower limb spas...	ORPHA:90321
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment	OMIM:118200
Cimdag Syndrome	Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Lipodystrophy, Microvesicular hepatic steatos...	OMIM:619273
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Hepatic steatosis	OMIM:615119
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Decreased methionine synthase activit...	OMIM:614857
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Hepatitis	ORPHA:363523
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal...	OMIM:619487
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Unsteady...	OMIM:618733
Friedreich Ataxia	Impaired vibratory sensation, Ataxia, Babinski sign, Optic atrophy, Impaired proprioception, Limb...	OMIM:229300
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Gait ataxia, Scleros...	ORPHA:572
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Os...	ORPHA:36234
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Polycystic ovaries, Generalized lipodystr...	ORPHA:79086
19P13.12 Microdeletion Syndrome	Hypospadias, Aplasia/Hypoplasia of the cerebellar vermis, Precocious puberty, Cryptorchidism, Hyp...	ORPHA:254346
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Macroorchidism, Precocious puberty, Hepatitis, Cholestasis, Hepa...	ORPHA:562
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Late-Onset Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypercalcemia, Hyper...	ORPHA:199299
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis media, Chroni...	ORPHA:169160
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Decreased motor nerve conduction velocity, Limb joint contracture, Cachexia, ...	OMIM:618186
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Hypouricemia, Ataxia, Abnormal erythrocyte enzyme leve...	ORPHA:1187
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Bardet-Biedl Syndrome 19	Hypogonadism, Hepatic steatosis, Obesity, External genital hypoplasia	OMIM:615996
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Hepatomegaly, Pancreatic fibrosis, Ataxia, Achilles tendon contracture, Dysme...	OMIM:616263
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Ankle clonus, Sclerosing cholangitis, E...	OMIM:308230
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, E...	ORPHA:171
Immunodeficiency 95	Lymphopenia	OMIM:619773
Chediak-Higashi Syndrome	Hepatomegaly, Recurrent bacterial skin infections, Ataxia, Decreased nerve conduction velocity, S...	OMIM:214500
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st...	OMIM:615438
Immunodeficiency 56	Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis...	OMIM:615207
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Broad-based gait, Inability to walk, Vocal cord paraly...	OMIM:615490
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	ORPHA:280365
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Multiple joint contractures, Facial palsy, Tremor, Inability to ...	OMIM:128100
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hepatomegaly, Lower limb spasticity, Atrophic gastritis, Skin rash, Chilblain...	OMIM:615846
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Elevated hepatic transaminase, Optic atrophy, Hypoalbuminemia, Cerebellar hyp...	OMIM:618329
Cockayne Syndrome	Progressive gait ataxia, Hypertonia, Congenital contracture, Intention tremor, Hepatomegaly, Atax...	ORPHA:191
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:607831
Obesity And Hypopigmentation	Hepatic steatosis, Obesity	OMIM:620195
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Decreased motor nerve conduction velocity, Frequent falls, Impaired pain sens...	ORPHA:99949
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,...	ORPHA:139402
Congenital Enterovirus Infection	Skin rash, Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepatic failure,...	ORPHA:292
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,...	ORPHA:101076
Cockayne Syndrome A	Cerebellar atrophy, Hepatomegaly, Hip contracture, Reduced subcutaneous adipose tissue, Ataxia, A...	OMIM:216400
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Small for gestational age, Cerebellar calcific...	OMIM:133540
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Decreased motor nerve conduction velocity, Osteomyelitis, Impaired pain sensation, Dysesthesia, I...	OMIM:613640
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr...	ORPHA:99901
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C...	OMIM:619846
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Aromatase Deficiency	Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys...	ORPHA:91
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai...	OMIM:601152
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ...	ORPHA:225147
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Chiari type I malformation, Hypertonia, Hypoalbuminemia, Hypocholes...	OMIM:270400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test...	ORPHA:189427
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Macrocephaly-Intellectual Disability-Autism Syndrome	Multiple lipomas, Hepatic steatosis, Penile freckling	ORPHA:210548
Japanese Encephalitis	Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Res...	ORPHA:79139
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hype...	OMIM:201475
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen...	ORPHA:228426
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ...	OMIM:269200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, Ch...	OMIM:194380
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:608594
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait...	ORPHA:466768
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Hep...	OMIM:613385
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Hypogonadism	OMIM:610651
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc...	OMIM:610199
Scheie Syndrome	Hepatomegaly, Cerebral palsy, Splenomegaly, Rhinitis, Spastic paraparesis, Abnormal nerve conduct...	ORPHA:93474
Digital Extensor Muscle Aplasia-Polyneuropathy	Abnormal nerve conduction velocity, Camptodactyly of finger, Impaired pain sensation	ORPHA:2926
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Elevated hepatic transaminase, Abnormal pyramidal sign, Spasticity, Opisthoto...	ORPHA:445038
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Flexion contracture, Tongue fasciculations	OMIM:619851
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Osteomyelitis, Impaired temperature sensation, Inability to walk, Distal sens...	ORPHA:36386
Autosomal Recessive Spastic Paraplegia Type 25	Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction	ORPHA:101005
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Broad-based gait, Failure to thrive in infancy, Distal senso...	ORPHA:477817
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Indifference To Pain, Congenital, Autosomal Recessive	Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d...	OMIM:243000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Spasticity	OMIM:304700
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Tangier Disease	Hypertriglyceridemia, Impaired temperature sensation, Hepatosplenomegaly, Facial diplegia, Hypoch...	ORPHA:31150
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula...	OMIM:619418
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash...	OMIM:618549
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Optic atrophy, Babinski sign, Limb ataxia...	OMIM:619259
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Pain insensitivity, Involuntary movements, Elevated ...	OMIM:615273
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit...	OMIM:209920
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Bronchiectasis, Hepatitis, Infectious encephalitis	ORPHA:1163
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormal fallopian tu...	ORPHA:2552
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive	OMIM:304790
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Lower limb spasticity, Hypoplasia of penis, Ataxia, Bilateral cryp...	ORPHA:66634
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Cholangitis, Microve...	OMIM:124000
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu...	OMIM:201300
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypocholesterolemia, C...	ORPHA:90363
Myasthenic Syndrome, Congenital, 25, Presynaptic	Decreased compound muscle action potential amplitude, Flexion contracture	OMIM:618323
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve...	ORPHA:941
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration...	ORPHA:309854
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Recurrent pneumonia, Opisthotonus, Chore...	OMIM:616271
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Chorea, Hypotriglyceridemia, Hepatomegaly, Micronodular cirrhos...	ORPHA:404454
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Gait disturba...	ORPHA:436271
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Ataxia	OMIM:275630
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Thyroi...	ORPHA:79259
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac...	ORPHA:2959
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ataxia, Spastic hemiparesis, Jau...	ORPHA:20
Dominant Beta-Thalassemia	Failure to thrive in infancy, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Ch...	ORPHA:231226
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti...	ORPHA:91138
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate...	OMIM:617253
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608836
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib...	ORPHA:541423
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, P...	OMIM:236200
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:212138
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Babinski sign, Cholestasis, Tip-toe gait, Hypocalcemia, Diffuse hep...	ORPHA:746
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Hypoplastic labia majora, Hypocholesterolemia, Failure to thrive, Clitoral hyp...	OMIM:244450
Lichen Planopilaris	Hepatitis	ORPHA:525
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Opisthotonus	OMIM:210200
Immunodeficiency 44	Lymphopenia	OMIM:616636
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni...	ORPHA:183675
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,...	ORPHA:320375
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulminant hepa...	OMIM:308240
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal mitochondrial shape...	ORPHA:17
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal dental enamel morphology, Cheilitis, Hepatitis, Abnormal vagina morphology	ORPHA:1334
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczematoid dermatitis, Chroni...	ORPHA:83471
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Chorea, Hepatitis, Arthritis, Spasticity, Juvenile rheumatoid arthritis	ORPHA:1855
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Limb ataxia, Gait at...	OMIM:614575
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Elevated circu...	OMIM:619573
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Asplenia, Iridocyclitis, Chron...	OMIM:240300
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Myasthenia Gravis	Myositis, Hepatitis, Paresthesia, Rheumatoid arthritis, Hashimoto thyroiditis	ORPHA:589
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Paralysis, Paraparesis, Jaundice, Hepatitis, Uveitis, H...	ORPHA:319251
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Gaucher Disease	Hepatomegaly, Osteomyelitis, Ataxia, Elevated circulating C-reactive protein concentration, Tremo...	ORPHA:355
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Pneumonia, Dysesthesia, Babinski...	ORPHA:79138
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Inability to walk, Flexion contracture, Optic atrophy, Recurrent pneu...	OMIM:617303
Mucopolysaccharidosis Type 7	Splenomegaly, Inguinal hernia, Umbilical hernia, Hepatitis	ORPHA:584
Dubowitz Syndrome	Inguinal hernia, Hypospadias, Eczema, Cryptorchidism, Otitis media, Hypocholesterolemia	OMIM:223370
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Hurler Syndrome	Hepatomegaly, Cerebral palsy, Camptodactyly of finger, Splenomegaly, Abnormal pyramidal sign, Rhi...	ORPHA:93473
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Atax...	ORPHA:699
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Elevated circulating C-reactive protein concentration, Recur...	OMIM:619381
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra...	ORPHA:79102
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis	ORPHA:977
Acute Liver Failure	Elevated hepatic transaminase, Pain insensitivity, Incoordination, Ataxia, Skin rash, Jaundice, S...	ORPHA:90062
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, P...	OMIM:203700
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Arthritis, ...	ORPHA:91139
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Ataxia, Optic atrophy, Decreased liver function, Increased intramyocellular lipid d...	OMIM:220110
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Clonus, Hypertonia, Otitis media, Micropenis, Hepatic steatosis, Intention tremor,...	OMIM:619475
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He...	OMIM:231530
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased...	OMIM:616005
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Decreased liver function, Tongue fasciculations, Myoclonus, Hepatic steatosis	OMIM:614922
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Lower limb spasticity, Hip contracture, Large for gestational age, Seborrheic derma...	OMIM:300868
Zygomycosis	Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Hepatitis, Ente...	ORPHA:73263
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Tetraplegia, H...	OMIM:610768
Primary Sjögren Syndrome	Somatic sensory dysfunction, Chronic active hepatitis, Myositis, Glomerulonephritis, Lymphocytic ...	ORPHA:289390
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr...	OMIM:231680
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancre...	OMIM:619991
Poliomyelitis	Abnormal motor nerve conduction velocity, Paralysis, Inability to walk, Paraparesis, Hyperkinetic...	ORPHA:2912
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Inguinal hernia, Small scrotum, Small for gesta...	OMIM:613658
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Somatic sensory dysfunction, Inflammatory abnormality of the skin,...	ORPHA:3260
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Hepatitis, Biliary cirrhosis, ...	ORPHA:227990
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Psoriasiform dermatitis, Enterocolitis, Interface hepatitis, Enamel hypoplasia	OMIM:243150
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis	ORPHA:319218
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Epididymitis, Pyoderma, Conjunctivitis, Recurrent ot...	OMIM:307200
Alström Syndrome	Hypoplasia of the Leydig cells, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otiti...	ORPHA:64
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Hepatitis, Biliary cirrhosis, ...	ORPHA:227982
Lymphangiectasia, Intestinal	Lymphopenia	OMIM:152800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of ...	ORPHA:93111
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Clonus, Decreased compound...	OMIM:602433
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Gastritis, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Uveitis, Thy...	ORPHA:3261
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Loss of ambulation, Decre...	ORPHA:2388
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop...	OMIM:215600
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level	OMIM:619767
Mucopolysaccharidosis Type 2	Hepatomegaly, Papilledema, Inguinal hernia, Decreased nerve conduction velocity, Splenomegaly, Op...	ORPHA:580
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Bronchiectasis, Azoospermia, ...	OMIM:210900
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Flexion contracture, Optic atrophy, Abdominal obesity, Hypoplasia of the ...	OMIM:619321
Monosomy 13Q34	Hepatic steatosis, Hypercalcemia, Obesity	ORPHA:96168
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Optic atrophy, Abnormality of peripheral nerve conduction	ORPHA:585
Wiedemann-Rautenstrauch Syndrome	Tremor, Wide penis, Chiari type I malformation, Hypertonia, Hepatic steatosis, Loss of facial adi...	ORPHA:3455
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle...	ORPHA:728
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru...	OMIM:229600
Arima Syndrome	Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas...	OMIM:243910
Leptospirosis	Hepatomegaly, Papilledema, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemi...	ORPHA:509
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, Conjunctiviti...	OMIM:300755
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Decreased compound muscle action potential amplitude, Osteoarthritis, Bronchiectasis, Clonus	OMIM:620080
Vici Syndrome	Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Chronic mucocut...	OMIM:242840
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure	OMIM:611126
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Jaundice, Hepatitis, Cholestasis, Atypi...	ORPHA:198
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Abnormally low T cell receptor excision circl...	ORPHA:276
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ...	ORPHA:2331
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczema, Bronchiectasis, Hepatitis, Hepatosplenomegaly, Ente...	ORPHA:391487
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimot...	ORPHA:436252
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Sandifer Syndrome	Abnormal posturing, Torticollis, Esophagitis, Hiatus hernia	ORPHA:71272
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Splenomegaly, Unsteady gait, Flex...	ORPHA:90324
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative...	OMIM:618935
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the spleen, Hemiplegia/...	ORPHA:1606
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Cerebellar vermis hypoplasia, Small for gestational age, Ataxia, Hypospadias, Tr...	OMIM:220111
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph...	OMIM:619525
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Tetraplegia, Hepatocellular necrosis, Hepatosplen...	OMIM:618278
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Atypical Werner Syndrome	Hypertriglyceridemia, Lipoatrophy, Ovarian neoplasm, Generalized lipodystrophy, Hypogonadism, Dec...	ORPHA:79474
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Flexion contracture, Knee flexion contracture, Hypocalcemia, Chronic otitis media, Micropenis, He...	OMIM:619503
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Resting tremor, Maculopapular exanthema, Skin rash, Elevated circu...	ORPHA:319213
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil...	OMIM:600802
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Decreased nerve conduction velocity, Genital hernia, Cystocele, Osteoarthritis, ...	ORPHA:285
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Hereditary Sensory And Autonomic Neuropathy Type 4	Pain insensitivity, Somatic sensory dysfunction, Fasciitis, Osteomyelitis, Impaired temperature s...	ORPHA:642
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Friedreich Ataxia 2	Impaired vibratory sensation, Incoordination, Abnormal medulla oblongata morphology, Ataxia, Babi...	OMIM:601992
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Digeorge Syndrome	Inguinal hernia, Femoral hernia, Acne, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, ...	OMIM:188400
Ogden Syndrome	Torticollis, Inguinal hernia, Eczema, Microvesicular hepatic steatosis, Jaundice, Cryptorchidism,...	OMIM:300855
Homozygous Familial Hypercholesterolemia	Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, ...	ORPHA:391665
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, Hashimoto thyroiditis, Obesity, Bili...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Hashimoto thyroiditis, Obesity, Bili...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Hashimoto thyroiditis, Obesity, Bili...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Hashimoto thyroiditis, Obesity, Bili...	ORPHA:99226
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Refsum Disease, Classic	Somatic sensory dysfunction, Elevated circulating phytanic acid concentration, Ataxia, Decreased ...	OMIM:266500
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger	OMIM:619934
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Refsum Disease	Splenomegaly, Ataxia, Abnormal pyramidal sign, Hemiplegia/hemiparesis	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
Bone marrow - MPATH pathological process term hyperplasia	Phyh^{tm1b(EUCOMM)Wtsi}	HOM	Early adult
Testis - MPATH pathological process term dysplasia	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 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines.	Metabolites (August 2023)	Phyh^{tm1b(EUCOMM)Wtsi}	PMC10456929
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

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Gene: Phyh MGI:891978

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Eye Morphology

Gross Pathology and Tissue Collection

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Histopathology

Eye Morphology

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Human diseases caused by Phyh mutations

Histopathology

IMPC related publications

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