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Gene: Zfp14 MGI:99160

Gene Summary

Name:

zinc finger protein 14

Synonyms:

Krox-9, 4732429I09Rik, Zfp-14

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
convulsive seizures		Zfp14^{tm1b(KOMP)Wtsi}	HOM		Early adult	5.27×10^-05
increased heart weight		Zfp14^{tm1b(KOMP)Wtsi}	HOM		Early adult	9.95×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Kidney	Section images	heterozygote	100% (2 of 2)
Large intestine	Section images	heterozygote	100% (2 of 2)
Ovary	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Small intestine	Section images	heterozygote	100% (2 of 2)
Spleen	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thymus	Section images	heterozygote	100% (2 of 2)
Thyroid gland	Section images	heterozygote	Ambiguous
Uterus	Section images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thalamus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	homozygote	0.0% (0 of 1)
Dorsal root ganglion	N/A	heterozygote	0.0% (0 of 2)
Dorsal root ganglion	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	0.0% (0 of 2)
Embryo	N/A	homozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 2)
Forebrain	N/A	homozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Fronto-nasal process	N/A	heterozygote	0.0% (0 of 2)
Fronto-nasal process	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 2)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	homozygote	0.0% (0 of 1)
Hindbrain	N/A	heterozygote	0.0% (0 of 2)
Hindbrain	N/A	homozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 1)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 1)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 1)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Nose	N/A	heterozygote	0.0% (0 of 2)
Nose	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 1)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 1)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	homozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 2)
Tail	N/A	homozygote	0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

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 Forepaw

10 Images

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Sleep Wake

Wake state (bmp file)

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Adult LacZ

LacZ Images Section

13 Images

View images

Eye Morphology

Images Ophthalmoscopy

4 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Zfp14 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 Zfp14 (0 diseases)
Human diseases predicted to be associated with Zfp14 (619 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Zfp14 by phenotypic similarity.

Disease	Matching phenotypes	Source
Epilepsy, Familial Temporal Lobe, 1	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ...	OMIM:600512
Epilepsy, Familial Temporal Lobe, 5	Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa...	OMIM:614417
Seizures, Benign Familial Neonatal, 2	Focal clonic seizure, Bilateral tonic-clonic seizure	OMIM:121201
Epilepsy, Idiopathic Generalized, Susceptibility To, 3	Seizure, Bilateral tonic-clonic seizure	OMIM:608762
Seizures, Benign Familial Infantile, 2	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:605751
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure	OMIM:619964
Epilepsy, Idiopathic Generalized, Susceptibility To, 12	Bilateral tonic-clonic seizure	OMIM:614847
Seizures, Benign Familial Neonatal, 3	Bilateral tonic-clonic seizure	OMIM:608217
Epilepsy, Familial Temporal Lobe, 8	Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se...	OMIM:616461
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:611364
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Bilateral tonic-clonic seizure, Myoclonus	OMIM:604827
Epilepsy, Familial Temporal Lobe, 3	Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura	OMIM:611630
Epilepsy, Idiopathic Generalized, Susceptibility To, 17	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:602477
Febrile Seizures, Familial, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:121210
Febrile Seizures, Familial, 5	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609255
Febrile Seizures, Familial, 6	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:609253
Febrile Seizures, Familial, 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At...	OMIM:604352
Seizures, Benign Familial Infantile, 5	Bilateral tonic-clonic seizure, Focal impaired awareness seizure	OMIM:617080
Succinic Semialdehyde Dehydrogenase Deficiency	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	ORPHA:22
Generalized Epilepsy With Febrile Seizures Plus, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp...	OMIM:616172
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Epilepsy, Nocturnal Frontal Lobe, 2	Bilateral tonic-clonic seizure, Status epilepticus	OMIM:603204
Centralopathic Epilepsy	Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures	OMIM:117100
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo...	OMIM:604403
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Epilepsy, Myoclonic Juvenile	Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:254770
Ethanolaminosis	Cardiomegaly	OMIM:227150
Generalized Epilepsy With Febrile Seizures Plus, Type 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:604233
Developmental And Epileptic Encephalopathy 9	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi...	OMIM:300088
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb...	OMIM:613863
Developmental And Epileptic Encephalopathy 15	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s...	OMIM:615006
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur...	OMIM:618357
Epilepsy, Idiopathic Generalized, Susceptibility To, 11	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607628
Seizures, Benign Familial Neonatal, 1	Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to...	OMIM:121200
Epilepsy, Idiopathic Generalized	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se...	OMIM:600669
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Bilateral tonic-clonic seizure, Left atrial enlarge...	OMIM:611556
Epilepsy, Familial Temporal Lobe, 6	Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept...	OMIM:615697
Epilepsy, Familial Temporal Lobe, 2	Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc...	OMIM:608096
Epilepsy, Idiopathic Generalized, Susceptibility To, 10	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen...	OMIM:613060
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10	Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil...	OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:609800
Developmental And Epileptic Encephalopathy 104	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im...	OMIM:619970
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Epilepsy, Juvenile Absence, Susceptibility To, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor...	OMIM:607631
Developmental And Epileptic Encephalopathy 26	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms...	OMIM:616056
Intellectual Developmental Disorder, X-Linked 100	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	OMIM:300923
Developmental And Epileptic Encephalopathy 94	Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a...	OMIM:615369
Epilepsy, Familial Adult Myoclonic, 5	Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur...	OMIM:615400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Developmental And Epileptic Encephalopathy 11	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus	OMIM:613721
Developmental And Epileptic Encephalopathy 12	Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure	OMIM:613722
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Dravet Syndrome	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in...	OMIM:607208
Febrile Seizures, Familial, 11	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo...	OMIM:614418
Juvenile Absence Epilepsy	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur...	ORPHA:1941
Perioral Myoclonia With Absences	Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen...	ORPHA:139426
Benign Familial Infantile Epilepsy	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s...	ORPHA:306
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly	Seizure, Bilateral tonic-clonic seizure	OMIM:614499
Developmental And Epileptic Encephalopathy 24	Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen...	OMIM:615871
Epilepsy, Familial Adult Myoclonic, 4	Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Intellectual Developmental Disorder, Autosomal Dominant 69	Bilateral tonic-clonic seizure	OMIM:617863
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Lymphoma, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of cla...	OMIM:619126
Developmental And Epileptic Encephalopathy 74	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon...	OMIM:618396
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton...	OMIM:617391
Autosomal Dominant Epilepsy With Auditory Features	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	ORPHA:101046
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Seizure precipitated by febrile infection, Takotsubo cardiomyopathy, Bilateral tonic-clonic seizu...	ORPHA:363549
Glycogen Storage Disease Ic	Hepatomegaly, Cyclic neutropenia, Hepatoblastoma, Chronic pancreatitis, Hepatocellular carcinoma,...	OMIM:232240
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Chylous Ascites	Ascites, Neoplasm, Pancreatitis	ORPHA:1160
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatic steatosis, Pancrea...	ORPHA:79084
Developmental And Epileptic Encephalopathy 108	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ...	OMIM:620115
Developmental And Epileptic Encephalopathy 31A	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic...	OMIM:616346
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu...	ORPHA:98908
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman...	ORPHA:2969
Seizures, Benign Familial Infantile, 3	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a...	OMIM:607745
Cortical Malformations, Occipital	Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure	OMIM:614115
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Bilateral tonic-clonic seizure, Myoclonus	ORPHA:139406
Developmental And Epileptic Encephalopathy 53	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu...	OMIM:617389
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu...	OMIM:617831
Epilepsy, Childhood Absence, Susceptibility To, 1	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:600131
Febrile Seizures, Familial, 8	Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge...	OMIM:607681
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,...	OMIM:607682
Epilepsy, Progressive Myoclonic 7	Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure	OMIM:616187
Female Restricted Epilepsy With Intellectual Disability	Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-...	ORPHA:101039
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus	OMIM:266100
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	OMIM:245570
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Hepatomegaly	OMIM:619175
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Hyperhi...	ORPHA:86893
Continuous Spikes And Waves During Sleep	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se...	ORPHA:725
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Papillary renal cel...	OMIM:145001
Myoclonic Epilepsy, Familial Infantile	Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr...	OMIM:605021
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Developmental And Epileptic Encephalopathy 13	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	OMIM:614558
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus	OMIM:608105
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure	OMIM:162350
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:300388
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts	Bilateral tonic-clonic seizure, Atypical absence seizure	OMIM:600176
Lennox-Gastaut Syndrome	Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General...	ORPHA:2382
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Developmental And Epileptic Encephalopathy 33	Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure	OMIM:616409
Developmental And Epileptic Encephalopathy 43	Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At...	OMIM:617113
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Unilateral Hemispheric Polymicrogyria	Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene...	ORPHA:101071
Episodic Ataxia, Type 9	Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus	OMIM:618924
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Epilepsy, Familial Focal, With Variable Foci 4	Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca...	OMIM:617935
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ...	OMIM:619164
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Epilepsy, Familial Adult Myoclonic, 3	Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Developmental And Epileptic Encephalopathy 27	Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My...	OMIM:616139
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Abnormal thyroid morp...	ORPHA:139507
Epilepsy, Progressive Myoclonic, 9	Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act...	OMIM:616540
Developmental And Epileptic Encephalopathy 52	Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene...	OMIM:617350
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure	OMIM:601068
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ge...	OMIM:619881
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis...	OMIM:240500
Congenital Macroglossia	Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Lipase Deficiency, Combined	Pancreatitis, Type II diabetes mellitus	OMIM:246650
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s...	OMIM:204300
Lissencephaly 10	Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo...	OMIM:618873
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Developmental And Epileptic Encephalopathy 109	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,...	OMIM:620145
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hep...	OMIM:618805
Developmental And Epileptic Encephalopathy 98	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ...	OMIM:619605
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recu...	OMIM:618935
Intellectual Developmental Disorder, X-Linked 1	Seizure, Bilateral tonic-clonic seizure, Atonic seizure	OMIM:309530
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, H...	OMIM:610717
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester...	OMIM:600803
Developmental And Epileptic Encephalopathy 59	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa...	OMIM:617904
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Developmental And Epileptic Encephalopathy 30	Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure	OMIM:616341
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis	OMIM:269840
Mahvash Disease	Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel...	OMIM:619290
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619386
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi...	OMIM:614470
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism, Adrenal insufficiency, Chronic pancreatitis	OMIM:307030
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton...	OMIM:618587
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Familial Focal Epilepsy With Variable Foci	Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo...	ORPHA:98820
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Cholesteryl Ester Storage Disease	Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi...	OMIM:278000
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta...	OMIM:614018
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopat...	ORPHA:2584
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Recurren...	OMIM:615122
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Developmental And Epileptic Encephalopathy 67	Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a...	OMIM:618141
Myoclonic Epilepsy Of Infancy	Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen...	ORPHA:86909
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden...	ORPHA:397596
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden...	ORPHA:98848
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Myoclonic Epilepsy Of Unverricht And Lundborg	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus	OMIM:254800
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent...	OMIM:620282
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm	ORPHA:172
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo...	OMIM:619157
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale, Bilateral tonic-clonic seizure	OMIM:618832
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function	OMIM:616829
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Developmental And Epileptic Encephalopathy 99	Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl...	OMIM:619606
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m...	ORPHA:36387
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Breast carcinoma, Abnormal lymp...	ORPHA:97290
Episodic Ataxia, Type 5	Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb...	OMIM:613855
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Anemia	ORPHA:37748
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial...	ORPHA:276
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat...	OMIM:617872
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy	ORPHA:545
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Lymphadenopathy, Hyperhidrosis, Neoplasm, Bone m...	ORPHA:391
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles...	ORPHA:69663
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Hepatic steatosis, Membranoproliferative glomerulonephritis, Polycystic ovaries	OMIM:608709
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome	Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure	ORPHA:79137
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis	ORPHA:436182
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neona...	OMIM:214900
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa...	OMIM:617106
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:435651
Peroxisomal Acyl-Coa Oxidase Deficiency	Very long chain fatty acid accumulation, Hepatomegaly, Diffuse hepatic steatosis, Elevated hepati...	OMIM:264470
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Legionnaires Disease	Pericarditis, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell...	ORPHA:79083
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Thrombocytopenia	ORPHA:721
Cataracts, Spastic Paraparesis, And Speech Delay	Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,...	OMIM:619338
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis	ORPHA:2348
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis	OMIM:620357
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619048
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Epilepsy, Progressive Myoclonic, 12	Bilateral tonic-clonic seizure, Myoclonus	OMIM:619191
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosp...	OMIM:209950
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Infectious encephalitis	ORPHA:42642
Morbid Obesity And Spermatogenic Failure	Hepatic steatosis, Type II diabetes mellitus	OMIM:615703
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ...	ORPHA:31205
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Precocious puberty, Jaundice, Spinal cord ...	ORPHA:370348
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Microcytic anemia, Hepatosplenomegaly, Hypopitu...	OMIM:619013
Benign Familial Neonatal-Infantile Seizures	Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure	ORPHA:140927
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Progressive Myoclonic Epilepsy Type 3	Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb...	ORPHA:263516
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Bilateral tonic-clonic seizure, Tonic seizure, Bilateral...	OMIM:618067
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Insulin-resistant diabetes mellitus, Acute pancreatitis	OMIM:608600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Macrocephaly-Intellectual Disability-Autism Syndrome	Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic steatosis	ORPHA:210548
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Autosomal Recessive Frontotemporal Pachygyria	Seizure, Bilateral tonic-clonic seizure	ORPHA:329329
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P...	ORPHA:436159
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis	ORPHA:79087
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti...	ORPHA:744
Guanidinoacetate Methyltransferase Deficiency	Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ...	ORPHA:382
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s...	OMIM:613101
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia,...	OMIM:150550
Cach Syndrome	Optic neuritis, Pancreatitis, Hepatosplenomegaly	ORPHA:135
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Seizure, Cardiomegaly	OMIM:300886
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hypogonadism, Hepatic fibrosis, Cirrho...	OMIM:613313
Amyloidosis, Familial Visceral	Splenomegaly, Skin rash, Cholestasis, Hepatomegaly	OMIM:105200
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis	OMIM:620137
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,...	OMIM:616433
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J...	ORPHA:103918
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis	ORPHA:26792
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp...	OMIM:618495
Malignant Migrating Focal Seizures Of Infancy	Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,...	ORPHA:293181
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 54	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Adrenocorticotropic hormone excess, Lym...	OMIM:609981
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ...	ORPHA:85414
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, B-cell lymphoma, Lymphoproli...	OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Lymphad...	OMIM:308240
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content	OMIM:232700
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Astrocytoma, Insulin-resistant diabetes mellitus, Lymphoma, Hyp...	ORPHA:79086
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Diabetes mel...	ORPHA:101330
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Mccune-Albright Syndrome	Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve...	ORPHA:562
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:3162
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Rotor Syndrome	Jaundice, Storage in hepatocytes, Intermittent jaundice	ORPHA:3111
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop...	OMIM:613179
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland...	ORPHA:2552
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Lymphoma,...	ORPHA:47612
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Developmental And Epileptic Encephalopathy 106	Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure	OMIM:620028
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Multiple myeloma, Pancreatitis	ORPHA:188
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Propionic Acidemia	Hepatomegaly, Pancytopenia, Eczema, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:606054
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Polymicrogyria With Optic Nerve Hypoplasia	Seizure, Bilateral tonic-clonic seizure, Infantile spasms	ORPHA:250972
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immunodeficiency 7	Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypereosinophi...	OMIM:615387
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ...	ORPHA:444490
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen...	OMIM:232220
Developmental And Epileptic Encephalopathy 93	Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz...	OMIM:618012
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatic steato...	OMIM:619487
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A...	OMIM:616100
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Lymphad...	ORPHA:39041
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:251000
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Myelodysplasia, Leukocytosis, He...	ORPHA:3260
Hypocalciuric Hypercalcemia, Familial, Type I	Parathyroid adenoma, Hyperparathyroidism, Pancreatitis	OMIM:145980
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Hypocalciuric Hypercalcemia, Familial, Type Ii	Multiple lipomas, Primary hyperparathyroidism, Pancreatitis	OMIM:145981
Gracile Syndrome	Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration	ORPHA:53693
Hereditary Chronic Pancreatitis	Diabetes mellitus, Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification	ORPHA:676
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Hepatic steatosis	OMIM:613877
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros...	ORPHA:541423
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonit...	ORPHA:342
Bardet-Biedl Syndrome 19	Hepatic steatosis, Hypogonadism	OMIM:615996
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Developmental And Epileptic Encephalopathy 103	Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General...	OMIM:619913
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Hepatomegaly	ORPHA:363400
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis, Hepatic...	OMIM:615238
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U...	ORPHA:727
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Abnormal erythrocyt...	ORPHA:264580
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo...	OMIM:203800
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis, Primary hypothyroidism	ORPHA:300536
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Familial Infantile Myoclonic Epilepsy	Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb...	ORPHA:352582
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, C...	ORPHA:169090
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:79085
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre...	OMIM:167800
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia, L...	OMIM:301078
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarch...	ORPHA:412057
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatocellular carcinoma, Portal fibrosis, Hepatic f...	ORPHA:369
Adult Acute Respiratory Distress Syndrome	Diabetic ketoacidosis, Pneumonia, Pancreatitis	ORPHA:70578
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv...	OMIM:212140
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Schimke Immuno-Osseous Dysplasia	Non-Hodgkin lymphoma, Lymphoproliferative disorder, Abnormality of thyroid physiology, Minimal ch...	ORPHA:1830
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastroin...	ORPHA:1572
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Delayed ...	ORPHA:247585
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Hepatocellular necrosis, Periportal fibros...	OMIM:201475
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane...	OMIM:226990
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cryptorchidism, Elevated circulat...	OMIM:615381
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell...	OMIM:618398
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
Zygomycosis	Fasciitis, Diabetes mellitus, Sinusitis, Pericarditis, Gastritis, Hematological neoplasm, Pustule...	ORPHA:73263
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevat...	OMIM:614921
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Typ...	OMIM:604367
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi...	ORPHA:99880
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Cholangitis, Orchitis, Keratitis, Retroperitoneal fibrosis, Abnormality ...	ORPHA:449563
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis	ORPHA:79322
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Decreased liver function, Hepatic stea...	ORPHA:42
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Splenomegal...	ORPHA:280365
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Pancreatitis	OMIM:236200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Acne, Paradoxical increased cortisol secreti...	ORPHA:189427
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Elev...	OMIM:615234
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi...	ORPHA:143
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Hepatic steatosis	OMIM:615980
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Incr...	OMIM:616005
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Vacuolated l...	ORPHA:565612
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Pneumonia, Abnormality of the endocrine sys...	ORPHA:228123
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout, Hepatic steatosis	ORPHA:412
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo...	OMIM:261680
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba...	ORPHA:117
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ...	OMIM:300755
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Cryptorchidism, Microvesicular hep...	OMIM:610198
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Igg4-Related Kidney Disease	Lymphadenitis, Lymphocytoma cutis, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Abn...	ORPHA:449395
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lympha...	OMIM:617591
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia...	ORPHA:93111
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly	OMIM:620296
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Cystic Fibrosis	Hepatomegaly, Recurrent pneumonia, Bronchiectasis, Biliary cirrhosis, Hepatosplenomegaly, Cirrhos...	OMIM:219700
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab...	ORPHA:521219
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Microcyt...	ORPHA:2959
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell co...	ORPHA:3261
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Hepatocellular carcinoma, Thyroiditis, Gout...	ORPHA:79259
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,...	OMIM:617388
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Maple Syrup Urine Disease	Pancreatitis	OMIM:248600
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating luteinizing ...	OMIM:617253
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased hepatic glycogen content, Enlarged tonsils, Abnormal circulating insulin concentration	ORPHA:293964
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Interstitial Lung And Liver Disease	Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser...	OMIM:608594
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hyperinsulinemia, Polycystic ovar...	ORPHA:528
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Atrophic gastritis, Chilblains, Pneu...	OMIM:615846
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity,...	OMIM:617303
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:435660
Sandhoff Disease, Infantile Form	Bilateral tonic-clonic seizure, Mitral valve prolapse, Myoclonic seizure, Seizure, Hepatosplenome...	ORPHA:309155
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p...	ORPHA:83471
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Adrenomyodystrophy	Hepatic steatosis, Primary adrenal insufficiency	ORPHA:977
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Developmental And Epileptic Encephalopathy 8	Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure	OMIM:300607
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatospleno...	OMIM:260920
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Delayed puberty, Gout, Hepatocellular carcinoma, Pan...	OMIM:232200
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple lipomas, Primary hyperparathyroidism, Pancreatitis	OMIM:600740
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hyperinsulinemia,...	OMIM:613327
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Acute hepatic failure, Elevated circulating a...	OMIM:277900
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Mac...	ORPHA:298
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Acute Lung Injury	Acute pancreatitis, Pneumonia	ORPHA:178320
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas...	OMIM:269700
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:369840
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hypothyroidism, Bone marrow hypocellularity, Infection associated ...	ORPHA:445038
Immunodeficiency 9	Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:612782
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Hepatic steatosis, Cholestasis, Elevated circulating alanine aminotransferase co...	OMIM:614300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Bloom Syndrome	Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Bronchiectasis, Squamous cell carcinoma, Type ...	OMIM:210900
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased liver function, Increa...	ORPHA:26791
Chylomicron Retention Disease	Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis, Acanth...	ORPHA:71
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hepatic steatosis	ORPHA:228305
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac...	ORPHA:20
Myoclonic Epilepsy Of Lafora	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-...	OMIM:254780
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis	ORPHA:52430
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia	OMIM:222700
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit...	OMIM:261515
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Hypochromic microcytic anemia, Hepatosp...	ORPHA:96123
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Sinusitis, Non-Hodgkin lymphoma, Lymphoma, Bronchiectasis...	OMIM:208900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:617093
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Hypoplastic nipples, Decreased liver function...	OMIM:618268
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Splenomegaly, Hyperhidrosis, Neoplasm of the skin	ORPHA:53715
19P13.12 Microdeletion Syndrome	Precocious puberty, Cryptorchidism, Hypothyroidism, Hepatic steatosis	ORPHA:254346
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphol...	ORPHA:98907
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst...	OMIM:151660
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz...	ORPHA:501
Crimean-Congo Hemorrhagic Fever	Hyperhidrosis, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutro...	ORPHA:99827
Childhood Absence Epilepsy	Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ...	ORPHA:64280
Syndromic Diarrhea	Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, ...	ORPHA:84064
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic...	OMIM:619991
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Decreased response to growth hormone stimulation tes...	ORPHA:470
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:212138
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplas...	OMIM:612541
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Pericarditis, Hepatomegaly, Hypergonadotropic h...	OMIM:212065
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice	OMIM:231680
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Prostatitis, Inflammatory ab...	ORPHA:900
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia	OMIM:616271
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Delaye...	OMIM:616263
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Hepatic steatosis, Thrombocytopenia, Elevated hepatic transaminase	ORPHA:99901
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Bone-marrow...	ORPHA:275761
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hepatic necrosis,...	ORPHA:71212
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash,...	ORPHA:99826
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni...	ORPHA:36426
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:605814
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemol...	ORPHA:90038
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Bilateral tonic-clonic seizure, Myoclonic seizure, Biventricular hyper...	OMIM:615474
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Anemia, Conjunctivitis, Neutropenia, Pancre...	ORPHA:537
Cimdag Syndrome	Cholelithiasis, Microvesicular hepatic steatosis, Hypogonadism, Hepatomegaly	OMIM:619273
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Male hypogonadism, Pancreatitis, Elevated hepatic transaminase	OMIM:619471
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus	OMIM:214110
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:348
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona...	OMIM:619377
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Granu...	ORPHA:93126
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Hepatic calcification, Tubulointerstitial nephritis, Hepatic failure,...	ORPHA:228308
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Cholestasis, Left ventricular hypertrophy, Diffuse hepatic steatosis, Chronic...	ORPHA:746
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypoch...	ORPHA:66634
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Hepatomegaly, Acanthocytosis, ...	ORPHA:14
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Anemia	ORPHA:436271
Fanconi-Bickel Syndrome	Hepatomegaly, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, H...	ORPHA:2088
Digeorge Syndrome	Hepatic steatosis, Parathyroid agenesis, Acne, Decreased circulating parathyroid hormone level, S...	OMIM:188400
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, B-cell lymphoma...	OMIM:619381
Melas	Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pancreatitis, Typ...	ORPHA:550
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I...	ORPHA:436252
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Diabetes mellitus, Acute colitis, Pneumonia, Myocarditis, Leukocytosis, Septic ...	ORPHA:544482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Esophagitis	OMIM:615356
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Hepatic s...	ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas...	OMIM:618329
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis	OMIM:616672
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis	OMIM:210200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa...	OMIM:220110
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis...	OMIM:617156
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Monosomy 13Q34	Hepatic steatosis	ORPHA:96168
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo...	OMIM:124000
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Familial Hypocalciuric Hypercalcemia	Lipoma, Pancreatitis	ORPHA:405
Atypical Werner Syndrome	Renal neoplasm, Hepatic steatosis, Diabetes mellitus, Abnormal circulating leptin concentration, ...	ORPHA:79474
Eec Syndrome	Decreased response to growth hormone stimulation test, Keratitis, Lymphoma, Xerostomia, Hypohidro...	ORPHA:1896
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:99413
Turner Syndrome	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:881
Mosaic Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi...	ORPHA:99226
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Hyperhidrosis, Increased intramyocellular lipid drop...	ORPHA:17
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Eczema, Facial capillary hemangioma, Precocious puberty, Cryptorchidism, Splenomega...	OMIM:270400
Visceral Myopathy 1	Pancreatitis	OMIM:155310
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg...	ORPHA:404454
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cholestasis, Bile duct prolifer...	OMIM:613658
Arima Syndrome	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:243910
Aromatase Deficiency	Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto...	ORPHA:91
1P36 Deletion Syndrome	Hepatic steatosis, Cryptorchidism, Abnormality of the spleen, Abnormality of the liver, Hypogonad...	ORPHA:1606
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc...	ORPHA:99829
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Osteomyelitis, Abnormal abdomen morphology, Jaundice, Neurofibroma...	OMIM:619475
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Recurrent pneumonia, Hypoplasia of the thymus, Ascites, Rig...	OMIM:613177
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepati...	OMIM:300868
Ogden Syndrome	Eczema, Maternal diabetes, Cardiomegaly, Cryptorchidism, Jaundice, Microvesicular hepatic steatos...	OMIM:300855
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Hepatic steatosis	OMIM:229600
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Acne, Abnormality of the tonsils, Seborrheic dermatitis, Cry...	ORPHA:567
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Decreased response to growth hormone stimulation test, Portal hypertension, Fet...	OMIM:619503
Scorpion Envenomation	Myocarditis, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, H...	ORPHA:466677
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis	OMIM:619934
Treacher-Collins Syndrome	Cryptorchidism, Multiple enchondromatosis, Abnormality of the adrenal glands, Hypoplasia of the t...	ORPHA:861
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size	OMIM:619321
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Elevated hemoglobin A1c, Macrovesicular hepatic stea...	OMIM:619127
Wiedemann-Rautenstrauch Syndrome	Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:3455
Lipodystrophy, Familial Partial, Type 7	Type I diabetes mellitus, Recurrent pancreatitis	OMIM:606721
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Left ventricular hypertrophy, Microvesicular hepatic steatosis, Increased hepatocellular lipid dr...	OMIM:220111
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hypoplasia of the thymus, Pneumonia, Increased serum testosterone level	OMIM:264090
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly	ORPHA:3384
Homozygous Familial Hypercholesterolemia	Hepatic steatosis	ORPHA:391665

Histopathology

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

There is no histopathology data for Zfp14

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 Zfp14.

No publications found that use IMPC mice or data for Zfp14.

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MGI Allele	Allele Type	Produced
Zfp14^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Zfp14^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Zfp14^{tm1e(KOMP)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: Zfp14 MGI:99160

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Sleep Wake

X-ray

X-ray

X-ray

Adult LacZ

Eye Morphology

X-ray

Auditory Brain Stem Response

Human diseases caused by Zfp14 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data