Gene Summary

programmed cell death 6 interacting protein
Alix,  AIP1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
abnormal lung morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
abnormal bone structure Pdcd6ipem1(IMPC)Mbp HOM Early adult 9.24×10-06
hydrocephaly Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
decreased brain size Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
microphthalmia Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased brain size Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
small heart Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
thick skin Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased body length Pdcd6ipem1(IMPC)Mbp HOM Early adult 3.09×10-06
abnormal seminal vesicle morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
small testis Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
small kidney Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
enlarged seminal vesicle Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal brain morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
increased circulating alkaline phosphatase level Pdcd6ipem1(IMPC)Mbp HOM   Early adult 7.85×10-05
abnormal skin morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
small testis Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased circulating bilirubin level Pdcd6ipem1(IMPC)Mbp HOM Late adult 1.19×10-05
enlarged stomach Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal stomach morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
decreased heart weight Pdcd6ipem1(IMPC)Mbp HOM Late adult 9.31×10-11
polycystic kidney Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal brain morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Pdcd6ipem1(IMPC)Hmgu HOM Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Whole Body Lateral Orientation

16 Images


XRay Images Whole Body Dorso Ventral

42 Images


XRay Images Whole Body Dorso Ventral

48 Images

Human diseases caused by Pdcd6ip 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.

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

The table below shows human diseases predicted to be associated to Pdcd6ip by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Megalencephaly, Hydrocephalus OMIM:615938
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hydrocep... OMIM:615937
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus... OMIM:600348
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormal corpus callosum morphology, Cortical dysplasia, Microcephaly, Hydrocep... OMIM:618709
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Endocardial fibrosis, Abnormality of the liver OMIM:235550
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Astrocytosis, Ventriculomegaly, Megalencephaly, Wide nasal bridge OMIM:611087
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Focal whi... OMIM:607341
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Hydrocephalus ORPHA:99966
Anteverted nares, Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Increased CSF protein, Hydrocephalus ORPHA:251912
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Anteverted nares, Hydrocephalus OMIM:300884
Renal-Hepatic-Pancreatic Dysplasia 1
Intestinal malrotation, Pancreatic fibrosis, Ureteral atresia, Renal insufficiency, Bile duct pro... OMIM:208540
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Beemer Lethal Malformation Syndrome
Hydrocephalus, Wide nasal bridge OMIM:209970
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Cerebral atrophy, Increased CSF protein, Hyperintensity of cerebral white ... ORPHA:204
Bardet-Biedl Syndrome 16
Renal agenesis, Bronchiolitis, Recurrent respiratory infections, External genital hypoplasia, Ren... OMIM:615993
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Abno... OMIM:618495
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Plasmacytosis, Follicular hyperplasia, Nodular pattern on pulmonary H... ORPHA:60026
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Dandy-Walker Syndrome
Dilated fourth ventricle, Posterior fossa cyst at the fourth ventricle, Hydrocephalus OMIM:220200
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Femoral-Facial Syndrome
Cryptorchidism, Maternal diabetes, Long penis, Short nose, Ventriculomegaly, Abnormal localizatio... ORPHA:1988
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Congenital Hydrocephalus
Colpocephaly, Bulbous nose, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, ... ORPHA:2185
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Hydrocephalus, Failure to thrive ORPHA:26
Meckel Syndrome, Type 1
Cryptorchidism, Hypoplasia of the bladder, Intestinal malrotation, Anencephaly, Lobulated tongue,... OMIM:249000
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Developmental And Epileptic Encephalopathy 49
Ventriculomegaly, Cerebral calcification, Microcephaly, Hydrocephalus, Dandy-Walker malformation,... OMIM:617281
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Buphthalmos, Pancreatic cysts, Choanal atresia, Cholestasis, Hepatic fibrosis, Hep... OMIM:610199
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Congenital Disorder Of Glycosylation, Type Il
Short nose, Pericardial effusion, Hepatomegaly, Ascites, Polycystic kidney dysplasia, Abnormal ca... OMIM:608776
Masa Syndrome
Microcephaly, Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:303350
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly, Wide nasal bridge OMIM:614870
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Horseshoe kidney, Abnormal lung morphology, Renal hypo... ORPHA:2470
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly ORPHA:52416
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Progressive Non-Fluent Aphasia
Astrocytosis, Abnormal cerebral white matter morphology, Temporal cortical atrophy, Frontotempora... ORPHA:100070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Ventriculomegaly, Type II lissencephaly, Hydrocephalus OMIM:614830
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst, Abnormality of the kidney OMIM:615987
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Basal ganglia cysts, Atrophy/Degeneration involving the caud... ORPHA:225154
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cell ca... OMIM:145001
Distal Tetrasomy 15Q
Hydrocele testis, Abnormality of the kidney, Atrial septal defect, Horseshoe kidney, Abnormal hea... ORPHA:314588
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Barrett e... ORPHA:70482
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Aminoaciduria, Intrahepatic biliary dysgenesis, Hypopl... OMIM:214110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Ventriculomegaly, Type II lissencephaly, Hydrocephalus OMIM:613154
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Wide nasal bridge OMIM:614859
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Conjugated hyperbilirubinem... ORPHA:53035
1Q21.1 Microduplication Syndrome
Cryptorchidism, Gastroesophageal reflux, Hypospadias, Tetralogy of Fallot, Hydrocephalus ORPHA:250994
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Meckel diverticulum, Abnormal renal morphology, Situs inversus totalis, Abnormal reproductive sys... ORPHA:1666
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Horseshoe kidney, Type I truncus arteriosus, Cystic renal dysplasia, Arrhinenceph... OMIM:156810
Pettigrew Syndrome
Ventriculomegaly, Abnormality of the basal ganglia, Cerebral calcification, Hydrocephalus, Dandy-... OMIM:304340
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Abnormal heart morphology, Periportal fibrosis, Bicornuate uterus, Pul... OMIM:263210
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Bardet-Biedl Syndrome 6
Hypospadias, Diabetes mellitus, Renal cyst, External genital hypoplasia OMIM:605231
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Narrow palate, Bulbous nose, Dilated cardiomyopathy, Enlarged kidney, ... OMIM:608836
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Unilateral renal agenesis, Testicular seminoma, Rena... ORPHA:281090
Caroli Syndrome
Conjugated hyperbilirubinemia, Melena, Jaundice, Hypersplenism, Leukopenia, Abnormality of the ki... ORPHA:480520
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Abnormality of the small intestine, Malabsorption, P... ORPHA:100025
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Macrosomia With Microphthalmia, Lethal
Respiratory infections in early life, Median cleft palate, Microphthalmia OMIM:248110
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver, Diabetes mellitus DECIPHER:47
Fanconi Anemia, Complementation Group O
Cryptorchidism, Abnormal heart morphology, External genital hypoplasia, Anal atresia, Hydronephro... OMIM:613390
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Osteoporosis, Cirrhosis, Azoospermia, Amenorrhea, H... OMIM:235200
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Trisomy 17P
Macroglossia, Urethral valve, Urethral stenosis, Cleft palate, Aortic valve stenosis, Hydronephro... ORPHA:261290
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Polycystic kidney dysplasia OMIM:211890
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Cirrhosis, Villous atrophy, Hypoplasia of the thymus, Bicus... ORPHA:84064
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell ... ORPHA:97290
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy OMIM:600333
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Hypoplasia of the corpus callosum, Abnormal cerebral w... OMIM:615191
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Gastroesophageal reflux, Barrett esophagus, Lymphadenopathy ORPHA:99976
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Wide nasal brid... OMIM:615524
Gombo Syndrome
Delayed puberty, Microphthalmia, Abnormal heart morphology OMIM:233270
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Morphological abnormality of the gastrointestin... ORPHA:1834
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology, Wide nose, Depressed na... ORPHA:488635
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Intestinal malrotation, Recurrent urinary tract infections, Abnormal... ORPHA:2970
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Abnormal cerebral white matter morphology, Frontotemporal cerebral atrophy ORPHA:275864
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Lymphadenopathy, Hepa... OMIM:615895
Fried Syndrome
Cerebral calcification, Hydrocephalus ORPHA:85335
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly, ... OMIM:269920
22Q11.2 Deletion Syndrome
Cryptorchidism, Bulbous nose, Intestinal malrotation, Choanal atresia, Vesicoureteral reflux, Abn... ORPHA:567
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Increased body weight, Hydrocep... ORPHA:759
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Hydrocephalus, Partial agenesis of the corpus callosum OMIM:304100
Faciothoracogenital Syndrome
Glandular hypospadias, Prominent scrotal raphe, Microphthalmia, Shawl scrotum, Anteverted nares OMIM:227320
Biemond Syndrome Type 2
Delayed puberty, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydroc... ORPHA:141333
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, High palate, Hepatic fibrosis, Short uvula, Pulmonary hypoplasia, Renal cyst, P... OMIM:614091
Hydrocephalus OMIM:148800
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Frontal Encephalocele
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification ORPHA:1931
Hydrolethalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Anencephaly OMIM:614120
Diabetic Embryopathy
Cryptorchidism, Abnormal morphology of female internal genitalia, Ventricular septal defect, Spin... ORPHA:1926
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Polycystic kidney dysplasia, Hydrocephalus OMIM:617866
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300864
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Abnormal heart morphology, Hepatic cysts, Abnormality of the te... ORPHA:400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Cerebral cortical atrophy OMIM:600795
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Cirrhosis, Azoospermia, Amenorrhea, He... OMIM:602390
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Burkitt Lymphoma
Abnormality of the ovary, Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helpe... ORPHA:543
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Mosaic Trisomy 9
Cryptorchidism, Bulbous nose, Intestinal malrotation, Dextrocardia, High palate, Abnormal fallopi... ORPHA:99776
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell ... ORPHA:319487
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal cerebral white matter morphology, Type II lissencephaly, Hydrocephalus ORPHA:352682
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ventriculomegaly, Type II lissencephaly, Hydrocephalus ORPHA:324416
Congenital Toxoplasmosis
Ventriculomegaly, Thrombocytopenia, Jaundice, Hepatomegaly, Microphthalmia, Anemia, Cardiomegaly,... ORPHA:858
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Gliosis, Hypoplasia of the co... ORPHA:79243
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Ventriculomegaly, Hepatomegaly, Ectopic kidney, Abnormali... OMIM:613730
Megalencephaly, Hydrocephalus, Depressed nasal bridge OMIM:100800
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Hepatic cysts, Polycystic kidney dysplasia, Colonic diverticula, Renal ins... OMIM:173900
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Megalencephaly, Polymicrogyria, Abnormal nasal morphology, Depressed nasal bridge ORPHA:83473
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Abnormal myocardium morphology, Cystic renal dysplasia, Hepatic steatosis, Renal... ORPHA:228308
Bresek Syndrome
Cryptorchidism, Hypoplasia of the bladder, Renal hypoplasia, Aganglionic megacolon, Renal dysplas... ORPHA:85284
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum,... ORPHA:1528
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Recurrent respiratory infections, Microphthalmia ORPHA:2432
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral atrophy, CSF lymphocytic pleiocytosis, Cerebral calcification, Progres... OMIM:610333
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Azoospermia, Hepatomegaly, Hypogonadis... OMIM:615234
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Short nose, Hydrocephalus, Glioma, Pulmonary hypoplasia, Anterior hypopit... OMIM:241800
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Polymicrogyria, Hydrocephalus, Depress... OMIM:602501
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Bardet-Biedl Syndrome 4
Cryptorchidism, External genital hypoplasia, Renal cyst, Hypogonadism, Abnormality of the kidney OMIM:615982
Microgastria-Limb Reduction Defect Syndrome
Crossed fused renal ectopia, Intestinal malrotation, Rectovaginal fistula, Anophthalmia, Renal hy... ORPHA:2538
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Bulbous nose, Abnormal cerebral white matter morphology, Wide nasal bridge, Anteverted nares, Hyd... OMIM:600991
Pontocerebellar Hypoplasia, Type 15
Simplified gyral pattern, Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the cor... OMIM:619302
Mmep Syndrome
Cryptorchidism, Microphthalmia, Ventricular septal defect ORPHA:3434
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Kerion Celsi
Lymphadenopathy ORPHA:499
Fanconi Anemia, Complementation Group L
Hydrocephalus, Renal hypoplasia, Esophageal atresia, Wide nasal bridge, Bone marrow hypocellulari... OMIM:614083
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal external genitalia, Anal atresia, Micro... ORPHA:3469
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Diffuse spongiform leukoencephalopathy, Focal T2 hyperintense basal ganglia lesion,... ORPHA:282166
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancrea... ORPHA:3032
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Hepatic steatosis, Proximal tubulopathy, Generalized ami... OMIM:231680
Gómez-López-Hernández Syndrome
Anteverted nares, Hydrocephalus ORPHA:1532
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Peutz-Jeghers Syndrome
Nasal polyposis, Anemia, Multiple renal cysts, Gastrointestinal infarctions, Abnormality of the g... ORPHA:2869
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, ... OMIM:263520
Holoprosencephaly, Spina bifida, Hydrocephalus, Abnormal lung lobation ORPHA:945
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Branchiootorenal Syndrome 1
Renal malrotation, Abnormal renal collecting system morphology, Renal agenesis, Renal steatosis, ... OMIM:113650
Short Rib-Polydactyly Syndrome
Nephronophthisis, Gastrointestinal atresia, Abnormality of the kidney, Urogenital sinus anomaly, ... ORPHA:1505
Distal Monosomy 12Q
Bulbous nose, Pyloric stenosis, Congenital hypertrophy of left ventricle, Vesicoureteral reflux, ... ORPHA:96149
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Unilateral renal agenesis, Septate vagina, Renal dysplasia, Vaginal at... ORPHA:2237
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Abnormal lung morphology, Abnormal testis morphology, Liver abscess, A... ORPHA:54251
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Increased serum serotonin, Oral-p... ORPHA:100083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Abnormal cerebral white matter morphology, Ventriculomegaly, A... OMIM:613153
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Horseshoe kidney, Ventricular septal defect, Ventriculomegaly, Hypospadias, Pylor... OMIM:218350
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Microcephaly, Agenesis of corpus callosum, Dand... OMIM:225790
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Hydrocephalus, Hypoplasia of the corpus callosum, Ventriculomegaly, Wide nasal bridge... OMIM:618577
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal sputum, Dysphagia, Abnormal pleura morphology, Abnormality ... ORPHA:2357
Temple Syndrome
Overweight, Truncal obesity, Small for gestational age, Anteverted nares, Hydrocephalus, Wide nos... OMIM:616222
Cryptorchidism, Macroglossia, Ambiguous genitalia, Holoprosencephaly, Intestinal malrotation, Hep... ORPHA:3376
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Aplasia/Hypoplasia of the lungs, Ascites, Anemia, Hypopl... ORPHA:1046
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Hepatic cysts, Recurrent urinary tract infections, Dextrocardia, Polycyst... OMIM:613095
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Colitis, Thr... OMIM:613101
Orofaciodigital Syndrome I
Ovarian cyst, Underdeveloped nasal alae, Tongue nodules, Abnormal heart morphology, Hepatic cysts... OMIM:311200
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydroureter, Aganglionic megacolon, Rectovaginal fistu... OMIM:236700
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Cerebral atrophy, Secondary microcephaly, Hydrocephalus ORPHA:397951
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Microphthalmia, Volvulu... ORPHA:335
Multiple Acyl-Coa Dehydrogenase Deficiency
Lacticaciduria, Abnormal heart morphology, Glutaric aciduria, Dysphagia, 3-Methylglutaric aciduri... ORPHA:26791
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:220210
Microphthalmia, Syndromic 9
Cryptorchidism, Single ventricle, Bicornuate uterus, Multilobulated spleen, Anophthalmia, Pelvic ... OMIM:601186
Craniofacial Dyssynostosis
Hypoplasia of the corpus callosum, Hydrocephalus, Underdeveloped nasal alae, Wide nasal bridge ORPHA:1516
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Female infertili... ORPHA:244
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Anophthalmia, Esopha... ORPHA:77298
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Hydroureter, Abnormality of the bladder, Microphthalmia, Hypoplasia of penis, Abnorma... ORPHA:2547
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatomegaly, Hepatic... ORPHA:157
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Vesicoureteral reflux, Cleft pal... ORPHA:1166
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Absent septum pellucidum, Holoprosencephaly, Aqueductal stenosis, Hy... ORPHA:2182
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos, Vaginal fistula, Laryngeal... OMIM:619318
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Hypogonadism, Microphthalmia ORPHA:2528
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Immunodeficiency 48
Hepatomegaly, Pneumonia, Splenomegaly OMIM:269840
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Colitis, Recurrent bronchiolitis, B lymphocy... OMIM:619164
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Carcinoid tumor, Chronic kidney disease, Parathyroid adenoma, Renal i... ORPHA:805
Dandy-Walker Malformation With Postaxial Polydactyly
Posterior fossa cyst at the fourth ventricle, Wide nasal bridge, Dilated fourth ventricle, Hydroc... OMIM:220220
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Genitopalatocardiac Syndrome
Abnormality of mesentery morphology, Cryptorchidism, Multicystic kidney dysplasia, Wide nasal bri... ORPHA:2075
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Abnormality of the larynx, Multicystic kidney dysplasia, Vaginal atresia, Anal at... ORPHA:3301
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Enlarged kidney, Hamartoma of tongue, Intestinal malrotation, Renal dysplasi... OMIM:613091
Trisomy 1Q
Cryptorchidism, Ambiguous genitalia, Ventricular septal defect, Congenital megaureter, Ventriculo... ORPHA:261344
Genitopalatocardiac Syndrome
Ventricular septal defect, Gonadal dysgenesis, male, Double outlet right ventricle, Renal cyst, C... OMIM:231060
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Colorectal polyp... ORPHA:157798
Cutis Laxa, Autosomal Recessive, Type Iib
Bulbous nose, Hydrocephalus, Failure to thrive, Microcephaly, Agenesis of corpus callosum OMIM:612940
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Absent septum pellucidum OMIM:307000
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus, Wide nasal bridge ORPHA:380
3C Syndrome
Intestinal malrotation, High, narrow palate, Hydrocephalus, Depressed nasal bridge, Abnormal tric... ORPHA:7
H Syndrome
Abnormality of the kidney, Recurrent pharyngitis, Azoospermia, Hydrocephalus, Microcytic anemia, ... ORPHA:168569
Odontochondrodysplasia 1
Recurrent respiratory infections, Nephronophthisis, Pulmonary hypoplasia, Polycystic kidney dyspl... OMIM:184260
Vacterl/Vater Association
Cryptorchidism, Anencephaly, Aplasia/Hypoplasia of the lungs, Abnormality of the urethra, Anal at... ORPHA:887
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Renal agenesis, Short nose, Anteverted nares, Renal hypoplasia, Laryngomalacia, H... ORPHA:171839
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia, Splenomegaly ORPHA:1802
Fanconi Anemia, Complementation Group B
Hydrocephalus, Ventricular septal defect, Hypergonadotropic hypogonadism, Optic disc hypoplasia, ... OMIM:300514
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Abnormal renal morphology... ORPHA:1655
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, ... OMIM:618935
Mental Retardation, Buenos Aires Type
Wide nasal bridge, Failure to thrive, Prominent nose, Microcephaly, Hydrocephalus, Partial agenes... OMIM:249630
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Osteoporosis, Cirrhosis, Infertility, Abnormality o... ORPHA:465508
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Decreased testicular ... OMIM:615287
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Short nose, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Abnormal cerebral cortex ... ORPHA:163961
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Gastroesophageal reflu... OMIM:617053
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Holoprosencephaly, Microphthalmia, Cleft palate, Anteverted nares, Depressed nasa... OMIM:612530
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesic... OMIM:617805
Krabbe Disease
Increased CSF protein, Diffuse cerebral atrophy, Hydrocephalus, Failure to thrive OMIM:245200
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Nanophthalmos 4
Microphthalmia OMIM:615972
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Fryns Syndrome
Cryptorchidism, Intestinal malrotation, Bicornuate uterus, Vesicoureteral reflux, High palate, Ve... ORPHA:2059
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydrocephalus, Enlarged kidney, Anal atresia, Hydronephrosis, Atrioventricular ... OMIM:314390
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Bulbous nose, Ventriculomegaly, Simplified gyral pattern, Communicating hydrocephal... OMIM:615219
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Nasu-Hakola Disease
Cerebral cortical atrophy, Ventriculomegaly, Cerebral calcification, Hydrocephalus ORPHA:2770
Trisomy 13
Cryptorchidism, Abnormal morphology of female internal genitalia, Multiple renal cysts, Atrial se... ORPHA:3378
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abnormality of the peritoneum, Hepatomegaly, Ascites, Anemia, Ileus, Mediastina... ORPHA:83469
Marden-Walker Syndrome
Cryptorchidism, Zollinger-Ellison syndrome, Anteverted nares, Renal hypoplasia, High palate, Dext... OMIM:248700
Phelan-Mcdermid Syndrome
Bulbous nose, Ventricular septal defect, Ventriculomegaly, Gastroesophageal reflux, Wide nasal br... OMIM:606232
Warburg Micro Syndrome 1
Cryptorchidism, Enlarged sylvian cistern, External genital hypoplasia, Wide nasal bridge, Microph... OMIM:600118
Abnormal morphology of female internal genitalia, Renal neoplasm, Multiple renal cysts, Hematuria... ORPHA:538
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Neutropenia, Splenomegaly, Anemia, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Cat-Eye Syndrome
Abnormal localization of kidney, Anal atresia, Hydronephrosis, Microphthalmia, Renal hypoplasia/a... ORPHA:195
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly,... OMIM:607616
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Autoimmune thrombocytopenia, Bronchiectasis, Decreased proportion of CD4-po... OMIM:300853
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Promin... OMIM:617751
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Hardikar Syndrome
Patent foramen ovale, Hydroureter, Ventricular septal defect, Hyperbilirubinemia, Intestinal malr... OMIM:612726
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Thrombocytopenia... ORPHA:290
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Obesity ORPHA:2183
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormality of the lymph nodes ORPHA:33111
Pallister-Hall Syndrome
Cryptorchidism, Hydroureter, Choanal atresia, Decreased testicular size, Micropenis, Precocious p... OMIM:146510
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate OMIM:616570
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Bronchiectasis, Increas... OMIM:615513
Meckel Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the tongue, Pancreatic fibrosis, Anencephaly, Anophthalmia,... ORPHA:564
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatomegaly, Anemia, Splenomegaly, He... OMIM:612840
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Malabsorption, Lymphadenopathy ORPHA:42642
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundic... OMIM:614866
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Mental Retardation, Autosomal Dominant 36
Hypoplasia of the corpus callosum, Ventriculomegaly, Microcephaly, Anteverted nares, Hydrocephalus OMIM:616362
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Short nose, Webbed neck, Pulmonic stenosis, Anteverted nares, Hydrocephalus, Hype... ORPHA:2701
Pierpont Syndrome
Cryptorchidism, Short nose, Microphthalmia, Broad nasal tip, Micropenis, Wide nose OMIM:602342
Temple Syndrome
Obesity, Small for gestational age, Hydrocephalus, Decreased response to growth hormone stimuatio... ORPHA:254516
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Reduced bone mineral density, Splenomegaly ORPHA:172
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Hydrocephalus OMIM:612247
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:139406
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Cryptorchidism, Tricuspid atresia, Adrenal hypoplasia, Atrial septal... OMIM:264480
Lig4 Syndrome
Cryptorchidism, Leukocytosis, Hypothyroidism, Wide nasal bridge, Pancytopenia, Hepatomegaly, Type... ORPHA:99812
Pleural Mesothelioma
Abnormal lung morphology, Dysphagia, Abnormal pleura morphology, Pleural effusion, Hepatomegaly, ... ORPHA:50251
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Recurrent upper and lower respiratory tract infections, Lymphadenopathy OMIM:608106
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly ORPHA:882
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Bardet-Biedl Syndrome 17
Situs inversus totalis, External genital hypoplasia, Dextrocardia, Renal cyst, Stage 5 chronic ki... OMIM:615994
Congenital Muscular Dystrophy, Fukuyama Type
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Type II lissencephaly, Hydrocephalus ORPHA:272
Fanconi Anemia, Complementation Group F
Cryptorchidism, Atrial septal defect, Microphallus, Renal hypoplasia, Pneumonia, Thrombocytopenia... OMIM:603467
Pentalogy Of Cantrell
Atrial septal defect, Renal agenesis, Ventricular septal defect, Polysplenia, Abnormal pericardiu... ORPHA:1335
Gracile Bone Dysplasia
Ankyloglossia, Aniridia, Asplenia, Microphthalmia, Ascites, Hypoplastic spleen, Micropenis, Hydro... OMIM:602361
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Failure to thrive in infancy... ORPHA:284417
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Astrocytosis, Gliosis, Increased CSF protein, Failure to thrive, Cerebral cortical neurodegeneration OMIM:203700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Oculocerebrocutaneous Syndrome
Cryptorchidism, Cleft palate, Microphthalmia, Anophthalmia, Dandy-Walker malformation OMIM:164180
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Duplicated collecting system, Neutropenia, Pancytopenia, Anemia, Pelvic kidney, M... OMIM:227646
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Anencephaly, Meningocele, Renal cyst, Microphtha... OMIM:611134
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomeg... ORPHA:79303
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Aminoaciduria, Hepatomegaly, Abnormality of ... ORPHA:417
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:614480
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese... OMIM:209950
Tetraamelia Syndrome 1
Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian tube, Choanal atresia, Abse... OMIM:273395
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Pleural effusion, Recurrent respirato... OMIM:618606
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:616100
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Atrial septal defect, Hyperechogenic kidneys, Ven... OMIM:614576
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Atrial septal defect, Lymphopenia, Neutropenia... OMIM:612541
Hodgkin Lymphoma
Hepatomegaly, Hemoptysis, Lymphadenopathy, Splenomegaly ORPHA:98293
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Floating-Harbor Syndrome
Cryptorchidism, Precocious puberty, Gastroesophageal reflux, Renal cyst, Broad nasal tip, Hypospa... ORPHA:2044
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Ventricular septal defect, Ventriculomegaly, Protein... OMIM:235255
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Anteverted nares, Colpocephaly OMIM:618731
Rosaï-Dorfman Disease
Anemia, Osteolysis, Lymphadenopathy ORPHA:158014
Greig Cephalopolysyndactyly Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Wide nasal bridge OMIM:175700
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Cofs Syndrome
Hypogonadism, Abnormal nasal morphology, Microphthalmia, Wide nasal bridge ORPHA:1466
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Conjugated hyperbilirubinemia, Hepatomegaly, Jaund... OMIM:214900
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Recurrent respiratory infections, Lymphad... OMIM:605258
Roberts-Sc Phocomelia Syndrome
Cryptorchidism, Narrow naris, Horseshoe kidney, Accessory spleen, Long penis, Underdeveloped nasa... OMIM:268300
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cryptorchidism, Hypogonadism, Hydrocephalus OMIM:601794
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Small for gestational age, Dilation of lateral ventricles OMIM:619278
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Ventriculomegaly, Cholestasis, Hepatic fibrosis, Hep... OMIM:615630
Pierpont Syndrome
Cryptorchidism, Ventriculomegaly, Microphthalmia ORPHA:487825
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Ren... OMIM:609053
Meckel Syndrome, Type 6
Anencephaly, Abnormal internal genitalia, Hepatic fibrosis, Cystic liver disease, Pulmonary hypop... OMIM:612284
Cryptorchidism, Arrhinencephaly, Anophthalmia, Tracheal atresia, Anencephaly, Laryngomalacia, Mic... ORPHA:2189
Edinburgh Malformation Syndrome
Short nose, Choanal atresia, Failure to thrive, Anteverted nares, Hydrocephalus ORPHA:1895
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Neutropenia in presence... OMIM:619220
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Gastrointestinal hemorrhage, Polycystic liver di... ORPHA:2924
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Hydrocephalus OMIM:236640
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Hepatic steatosis, Occipital meningocele, Hepatic ... OMIM:243910
Emanuel Syndrome
Cryptorchidism, High palate, Micropenis, Hydrocephalus, Truncus arteriosus, Ventriculomegaly, Gas... ORPHA:96170
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Abnormal heart morphology, Ventricular septal defect, Dysphagia, Ventriculomegaly... ORPHA:494344
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Osteoporosis, Hepatomegaly, Splenomegaly, Abnormal mast... ORPHA:98848
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Galactosemia Iii
Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly OMIM:230350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly, Leukoencephalopathy OMIM:615181
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery sten... OMIM:613001
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Bulbous nose, Wide nasal bridge, Obesity, Prominent nose, Anteverted nares, Hydrocephalus, Depres... ORPHA:2180
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Anteverted nares, Recurrent upper respiratory tract infections, Pneumonia, Multicysti... OMIM:300209
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Recurre... ORPHA:911
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Glutamine Deficiency, Congenital
Short nose, Hypoplasia of the corpus callosum, Wide nasal bridge, Subependymal cysts, Anteverted ... OMIM:610015
Mend Syndrome
Cryptorchidism, Aortic valve stenosis, High palate, Prominent nasal bridge, Hydrocephalus, Dandy-... OMIM:300960
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnorma... ORPHA:79301
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitar... ORPHA:2166
Sandhoff Disease
Hepatomegaly, Recurrent respiratory infections, Splenomegaly ORPHA:796
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Hypertri... OMIM:612526
Follicular Lymphoma
Pleural effusion, Abnormality of the peritoneum, Splenomegaly, Mediastinal lymphadenopathy, Lymph... ORPHA:545
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Meckel Syndrome, Type 10
Anencephaly, Renal cyst, Cleft palate, Hypospadias, Micropenis OMIM:614175
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Coach Syndrome 2
Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Cholestasis, Renal tubular atrophy, Tub... OMIM:615862
Fryns Syndrome
Cryptorchidism, Intestinal malrotation, Ectopic pancreatic tissue, Bicornuate uterus, Ureteral du... OMIM:229850
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Melanosis, Neurocutaneous
Dandy-Walker malformation, Hydrocephalus, Choroid plexus papilloma OMIM:249400
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Abnormal abdomen morphology, Unilateral renal agenesis, Esophageal v... OMIM:216360
Acrorenal-Mandibular Syndrome
Narrow palate, Absent nipple, Renal agenesis, Unicornuate uterus, Abnormality of the ureter, Bico... OMIM:200980
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus ORPHA:261102
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Bifid scrotum, High palate, Pyloric stenosis, Choanal atresia, Penoscrotal transp... OMIM:619148
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Ventriculomegaly, Abnormal cereb... OMIM:618476
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Microphthalmia, Anophthalmia, Prominent nose OMIM:221950
Roberts Syndrome
Cryptorchidism, Long penis, Underdeveloped nasal alae, Clitoral hypertrophy, Thrombocytopenia, Po... ORPHA:3103
Lowry-Maclean Syndrome
Short nose, Hydrocephalus, Short nasal bridge, Midgut malrotation, Bilateral cryptorchidism, Choa... ORPHA:2409
Aniridia, Hematuria, Neoplasm of the liver, Nephroblastoma, Neoplasm of the lung, Lymphadenopathy ORPHA:654
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424019
Chromosome 17P13.1 Deletion Syndrome
Prominent nasal bridge, Anteverted nares, Hydrocephalus OMIM:613776
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus OMIM:109120
Roifman Syndrome
Noncompaction cardiomyopathy, Underdeveloped nasal alae, Lymphadenopathy, Recurrent pneumonia, Hy... ORPHA:353298
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short nose, Hydrocephalus, Wide nasal bridge OMIM:613603
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Hyperbilirubinemia, Cholelithiasis, Wide nasal bridge, Double outlet right ... OMIM:614886
Kleefstra Syndrome
Cryptorchidism, Vesicoureteral reflux, Pulmonary artery stenosis, Renal insufficiency, Micropenis... ORPHA:261494
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Megaloblastic anemia, Dysphagia, Hypothyroidism, Sideroblastic a... OMIM:222300
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Legionnaires Disease
Recurrent pharyngitis, Hematuria, Abnormal lung morphology, Pericarditis, Endocarditis, Abnormal ... ORPHA:549
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis, Follicular hyperp... OMIM:240500
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Pulmonary hypopl... ORPHA:3033
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Failure to thrive, Hydrocephalus, Depressed nasal bridge ORPHA:60040
Vacterl With Hydrocephalus
Cryptorchidism, Spina bifida, Renal agenesis, Hydrocephalus, Arrhinencephaly, Esophageal atresia,... ORPHA:3412
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Hydrocephalus, Depressed nasal bridge ORPHA:2635
Mixed Connective Tissue Disease
Hemolytic anemia, Pleuritis, Gastrointestinal hemorrhage, Pulmonary fibrosis, Pericarditis, Gastr... ORPHA:809
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Micropht... OMIM:618652
Birt-Hogg-Dube Syndrome
Spontaneous pneumothorax, Renal neoplasm, Multiple pulmonary cysts, Renal cell carcinoma, Large i... OMIM:135150
Seckel Syndrome 2
Microglossia, Ectopic kidney, Microphthalmia, Hypospadias, Prominent nose OMIM:606744
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Conjugated hyperbilirubinem... OMIM:616860
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Ventriculomegaly, Unilateral renal agenesis, Hydronephrosis, Broad nasal tip, Hig... OMIM:609757
Cryptorchidism, Ambiguous genitalia, Microphallus, Adrenal hypoplasia, Hyperechogenic kidneys, En... OMIM:612651
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Nephropathy, Cholestasis, Hepatic fibrosis, Hepatomegaly, Renal d... OMIM:266920
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Femoral-Facial Syndrome
Cryptorchidism, Maternal diabetes, Truncus arteriosus, Abnormal renal collecting system morpholog... OMIM:134780
Kaposiform Lymphangiomatosis
Multiple renal cysts, Abnormal lung morphology, Enlarged kidney, Pancreatic cysts, Pleural effusi... ORPHA:464329
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bladder duplication, Vesicoureteral reflux, Bladder exstrophy, Rena... ORPHA:322
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:608184
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Dysphagia, Laryngotracheal stenosis, Neoplasm of the lung, ... ORPHA:142
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia, Intestinal malrotation, Anteverted nares OMIM:601163
Jacobsen Syndrome
Cryptorchidism, Atrial septal defect, Short nose, Ventricular septal defect, Holoprosencephaly, R... OMIM:147791
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Pagod Syndrome
Abnormal morphology of female internal genitalia, Spina bifida, Abnormality of the uterus, Ambigu... ORPHA:991
Beta-Thalassemia Intermedia