Gene Summary

N(alpha)-acetyltransferase 10, NatA catalytic subunit
Te2,  2310039H09Rik,  Ard1,  Ard1a

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 lymph node morphology Naa10em1(IMPC)Mbp HEM Late adult 0.00
enlarged kidney Naa10em1(IMPC)Mbp HOM Late adult 0.00
increased lean body mass Naa10em1(IMPC)Mbp HOM   Early adult 3.48×10-05
small kidney Naa10em1(IMPC)Mbp HEM Early adult 0.00
abnormal liver morphology Naa10em1(IMPC)Mbp HEM Late adult 0.00
abnormal coat/hair pigmentation Naa10em1(IMPC)Mbp HOM Early adult 6.12×10-16
abnormal kidney morphology Naa10em1(IMPC)Mbp HOM Late adult 0.00
abnormal adrenal gland morphology Naa10em1(IMPC)Mbp HEM Late adult 0.00
decreased heart weight Naa10em1(IMPC)Mbp HEM   Late adult 5.76×10-07
improved glucose tolerance Naa10em1(IMPC)Mbp HOM   Late adult 2.28×10-07
enlarged kidney Naa10em1(IMPC)Mbp HEM Early adult 0.00
small testis Naa10em1(IMPC)Mbp HEM Early adult 0.00
abnormal ovary morphology Naa10em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Naa10em1(IMPC)Mbp HEM Late adult 0.00
abnormal skin morphology Naa10em1(IMPC)Mbp HEM Early adult 0.00
abnormal testis morphology Naa10em1(IMPC)Mbp HEM Early adult 0.00
abnormal coat/hair pigmentation Naa10em1(IMPC)Mbp HOM Middle aged adult 2.39×10-13
enlarged spleen Naa10em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Naa10em1(IMPC)Mbp HEM Late adult 0.00
abnormal skin morphology Naa10em1(IMPC)Mbp HOM Late adult 0.00
hydrocephaly Naa10em1(IMPC)Mbp HEM Late adult 0.00
abnormal seminal vesicle morphology Naa10em1(IMPC)Mbp HEM Late adult 0.00
abnormal spleen morphology Naa10em1(IMPC)Mbp HEM Early adult 0.00
abnormal lymph node morphology Naa10em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Naa10em1(IMPC)Mbp HOM Late adult 0.00
enlarged kidney Naa10em1(IMPC)Mbp HEM Late adult 0.00
enlarged seminal vesicle Naa10em1(IMPC)Mbp HEM Late adult 0.00
increased grip strength Naa10em1(IMPC)Mbp HOM   Late adult 2.77×10-05
abnormal skin morphology Naa10em1(IMPC)Mbp HEM Late adult 0.00
increased circulating alkaline phosphatase level Naa10em1(IMPC)Mbp HOM   Early adult 8.76×10-06
abnormal spleen morphology Naa10em1(IMPC)Mbp HOM Late adult 0.00
abnormal coat/hair pigmentation Naa10em1(IMPC)Mbp HEM Middle aged adult 2.48×10-13
enlarged heart Naa10em1(IMPC)Mbp HOM Late adult 0.00
small spleen Naa10em1(IMPC)Mbp HEM Early adult 0.00
abnormal coat/hair pigmentation Naa10em1(IMPC)Mbp HEM Early adult 1.98×10-13
decreased total body fat amount Naa10em1(IMPC)Mbp HOM   Early adult 6.17×10-05
enlarged lymph nodes Naa10em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Naa10em1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Naa10em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Naa10em1(IMPC)Mbp HOM Late adult 0.00
improved glucose tolerance Naa10em1(IMPC)Mbp HEM   Late adult 3.55×10-06
abnormal brain morphology Naa10em1(IMPC)Mbp HEM Late adult 0.00
abnormal trachea morphology Naa10em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Naa10em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Naa10em1(IMPC)Mbp HEM Early 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 Dorso Ventral

30 Images


XRay Images Whole Body Dorso Ventral

48 Images


XRay Images Whole Body Lateral Orientation

16 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Naa10 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.

The table below shows human diseases predicted to be associated to Naa10 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Book Syndrome
Premature graying of hair OMIM:112300
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Increased bone mineral density OMIM:166450
Increased bone mineral density OMIM:265880
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged kidney, Hirsutism, Insulin-resistant ... ORPHA:90301
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Pancreatic cysts, Polysplenia, Hepatic cysts, B... OMIM:208540
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Abnormal heart morphology, Enlarged kidney, Hypothyroidis... ORPHA:85445
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... ORPHA:2485
Cardiomegaly OMIM:227150
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Lymp... OMIM:618495
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Short nose, Generalized hyperpigmentation, Hypospadias, Anteverted nares ORPHA:1355
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting OMIM:201710
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2204
Crandall Syndrome
Abnormal testis morphology, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse bod... ORPHA:202
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Hydrocephalus, ... OMIM:314390
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Isolated Osteopoikilosis
Generalized osteosclerosis ORPHA:166119
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypoglycemia, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Lessel-Kubisch Syndrome
Premature graying of hair, Renal hypoplasia, Sparse pubic hair, Renal insufficiency, Hypogonadism OMIM:618681
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... OMIM:166600
H Syndrome
Abnormal eyebrow morphology, Azoospermia, Microcytic anemia, Enlarged kidney, Amenorrhea, Histioc... ORPHA:168569
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Enlarged kidney, Focal segmental glomerulosclerosis, Macrovesicular hepati... OMIM:617303
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell carcinoma, Re... ORPHA:97290
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... ORPHA:730
Beckwith-Wiedemann Syndrome
Cryptorchidism, Neonatal hypoglycemia, Renal cortical cysts, Enlarged kidney, Gonadoblastoma, Car... OMIM:130650
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Cryptorchidism, Ambiguous genitalia, Microphallus, Adrenal hypoplasia, Enlarged kidney, Sex rever... OMIM:612651
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Microphthalmia, Anemia, Cardiomegaly, Ascites, Lymphade... ORPHA:858
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Nail dysplasia, Reticulated skin p... OMIM:613987
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Hydrocephalus OMIM:209970
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Hydrocephalus OMIM:615938
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal lymphatic... ORPHA:464329
Kerion Celsi
Lymphadenopathy ORPHA:499
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Elevated hepatic transaminase, Enlarged kidney, Ventriculomegal... OMIM:608836
1Q21.1 Microduplication Syndrome
Cryptorchidism, Tetralogy of Fallot, Hydrocephalus, Hypospadias ORPHA:250994
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular... OMIM:276700
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Papillary renal cell ... ORPHA:319487
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Glucose intolerance, Ventricular septal defect, Ventriculomegaly, Impaired gluc... OMIM:615630
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Cholestasis, Renal tubular atrophy, Tub... OMIM:615862
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Dilated cardiomyopathy, Lymphadenopathy OMIM:615895
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... OMIM:300510
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Glucose intolerance, Hepatocellular carcinoma, Hepatomegaly, Testicular a... OMIM:235200
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Thrombocytopenia... ORPHA:290
Increased CSF protein, Hydrocephalus ORPHA:251912
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Hydrocephalus OMIM:615937
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... ORPHA:543
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Hypoplastic left atrium, Bicornuate uterus, Microphtha... OMIM:615524
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Horseshoe kidney, Renal hypoplasia, Abnormal spleen mo... ORPHA:2470
Developmental And Epileptic Encephalopathy 36
Hepatomegaly, Hydrocephalus OMIM:300884
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormality of the lymph nodes ORPHA:33111
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Pericarditis, Acute kidney injury, Thyroiditis, U... ORPHA:449395
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Generalized osteosclerosis OMIM:215045
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Enlarged kidney, Ovarian serous cystadenoma, Nephroblastoma, Abnormality of the... ORPHA:276280
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Wide anterior fontanel, Thin bony cortex, Increased bone mineral density ORPHA:85184
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density OMIM:231095
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Nanophthalmos 4
Microphthalmia OMIM:615972
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Diabete... OMIM:271500
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Mmep Syndrome
Cryptorchidism, Microphthalmia, Ventricular septal defect ORPHA:3434
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Cardiomyopathy OMIM:613313
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Diabetes mellitus, Nephrolithiasis, Macronodular adrenal hyperplasia ORPHA:189427
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Biemond Syndrome Type 2
Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Hydrocephalus ORPHA:141333
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Elevated hepatic transaminase, Abnormal testis morphology, Abnormality... ORPHA:54251
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Ventriculomegaly, CSF lymphocytic pleiocytosis, Hepatomegaly, Sple... OMIM:610333
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Osteopoik... ORPHA:1306
Faciothoracogenital Syndrome
Glandular hypospadias, Shawl scrotum, Microphthalmia, Prominent scrotal raphe OMIM:227320
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancre... ORPHA:79084
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Decreased circulating renin level, Adrenal... OMIM:103900
Hydrocephalus, Dandy-Walker malformation ORPHA:79332
Primary Pigmented Nodular Adrenocortical Disease
Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus ORPHA:189439
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed patellar ossification, Abnormal bone ossification, Wide anterior fontanel, Increased bone... ORPHA:163649
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Pulmonic stenosis, Aortic va... OMIM:220210
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
X-Linked Sideroblastic Anemia
Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepa... OMIM:200995
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Hydrocephalus OMIM:618709
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Abnormal vertebral segmentation and fus... ORPHA:90650
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Adrenal hyperplasia, Adrenogenital syndrome, Male pseudohermaphroditism OMIM:202110
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypert... ORPHA:335
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Increased serum serotonin, Adreno... ORPHA:100083
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Griscelli Syndrome Type 2
Hemophagocytosis, Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Neu... ORPHA:79477
Nephroblastomatosis, Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Abnormal liver lo... OMIM:608022
Diabetic Embryopathy
Abnormal morphology of female internal genitalia, Cryptorchidism, Ventricular septal defect, Spin... ORPHA:1926
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatic steatosis, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes m... OMIM:612526
Diencephalic Syndrome
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Long penis ORPHA:1672
Hypopigmentation of hair, Premature graying of hair, Abnormal testis morphology, Lymphopenia, Apl... ORPHA:100
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an... ORPHA:90790
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... ORPHA:1046
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Hemochromatosis, Type 2A
Cirrhosis, Azoospermia, Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Hypog... OMIM:602390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Ventriculomegaly, Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Decreased testicular ... OMIM:615287
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly... OMIM:256550
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232220
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Sabinas Brittle Hair Syndrome
Sparse hair, Dry hair, Nail dysplasia, Brittle hair, Nail dystrophy OMIM:211390
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Absent pubic hair, Absent axillar... ORPHA:99429
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, External genital hypoplasia, Hypogonadotropic hy... ORPHA:177910
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Chudley-Mccullough Syndrome
Ventriculomegaly, Hydrocephalus OMIM:604213
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Microphthalmia, Syndromic 9
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Single ventricle, Renal malrotation, Ve... OMIM:601186
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Edinburgh Malformation Syndrome
Jaundice, Hydrocephalus OMIM:129850
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Enlarged kidney, Membranoproliferative glomerulonephritis, Delayed pub... ORPHA:251004
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Beckwith-Wiedemann Syndrome
Cryptorchidism, Pseudohypoparathyroidism, Hypercalciuria, Vesicoureteral reflux, Cardiomegaly, Ad... ORPHA:116
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Synophrys, White eyelashes, White ... ORPHA:2884
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormality of mesentery morphology, Multicystic kidney dysplasia, Gonadal dysgen... ORPHA:2075
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Enlarged kidney, Abnormal heart morphology, Proteinuria, Urinary glycosamin... ORPHA:505248
Fasting hypoglycemia, Long penis, Hyperinsulinemia, Insulin resistance, Enlarged ovaries, Recurre... ORPHA:508
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Impaired gluconeogenesis, Decreased carnitine leve... OMIM:212140
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Ventriculomegaly, Normal pressure hydrocephalus OMIM:611808
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Multicystic kidney dysplasia, Hepatic fibrosis, Hepatom... OMIM:607361
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Band Heterotopia
Ventriculomegaly, Hydrocephalus OMIM:600348
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Hypercalciuria... ORPHA:251274
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Cardiomy... ORPHA:93476
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Red hair, Decreased response to growth hormone stimuation test, Pituitary hypot... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Red hair, Decreased response to growth hormone stimuation test, Pituitary hypot... ORPHA:71526
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Cushing Disease
Nephrolithiasis, Diabetes mellitus, Adrenal hyperplasia, Premature ovarian insufficiency, Cardiom... ORPHA:96253
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Hyperaldosteronism, Abnormal circulating reni... ORPHA:369929
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal hypoplasia, Red hair, Decreased response to growth hormone stimuation test, Cholestasis, ... OMIM:609734
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Ovarian neoplasm, Generalized hirsutism, F... ORPHA:2221
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Temple Syndrome
Cryptorchidism, Decreased testicular size, Hydrocephalus, Maturity-onset diabetes of the young OMIM:616222
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Temple Syndrome
Cryptorchidism, Hydrocephalus, Type II diabetes mellitus, Recurrent hypoglycemia, Precocious pube... ORPHA:254516
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Diab... OMIM:608709
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Horseshoe kidney, Ventricular septal defect, Ventriculomegaly, Hypospadias, Hydro... OMIM:218350
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Abnormal heart morphology, Ventriculomegaly, Hypospadias, Hyperglycemia, Hydrocep... OMIM:175700
Pallister-Hall-Like Syndrome
Abnormal heart morphology, Anterior hypopituitarism, Renal dysplasia, Micropenis, Hydrocephalus OMIM:241800
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Recurrent fractures, Increased b... ORPHA:1782
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Chronic noninfectious lym... ORPHA:97289
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Diabetes mel... OMIM:615830
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pathologic fracture, Calvarial o... OMIM:259700
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Wolfram Syndrome 1
Neurogenic bladder, Pigmentary retinopathy, Hydroureter, Megaloblastic anemia, Hypothyroidism, Si... OMIM:222300
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Bilater... OMIM:618156
Meckel Syndrome, Type 6
Anencephaly, Abnormal internal genitalia, Hepatic fibrosis, Cystic liver disease, Renal cyst, Bil... OMIM:612284
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hypoglycemia, Splenomegaly ORPHA:664
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy OMIM:617713
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Cryptorchidism, Ambiguous genitalia, Holoprosencephaly, Meningocele, Hepatomegaly, Abnormality of... ORPHA:3376
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepa... ORPHA:79259
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Atrial septal defect, Microphthalmia, Ventricular septal defect ORPHA:3469
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos, Vaginal fistula, Bicuspid ... OMIM:619318
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid... ORPHA:404
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anem... OMIM:618886
Diastrophic Dwarfism
Joint hyperflexibility, Joint stiffness, Camptodactyly of finger, Increased bone mineral density ORPHA:628
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Albers-Schönberg Osteopetrosis
Recurrent fractures, Generalized osteosclerosis, Mandibular osteomyelitis, Osteoarthritis, Osteom... ORPHA:53
Abnormality of the hepatic vasculature, Acute kidney injury, Polycystic ovaries, Thrombocytopenia... ORPHA:275555
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-... ORPHA:403
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Atrial septal defect, Horseshoe kidney, Ventricular septal defect, Ren... OMIM:609053
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Anophthalmia OMIM:221950
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Red hair, Fair hair, Congenital hypothyroidism, Hypospadias, Diabetes mellitus, B... OMIM:614613
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abnormality of the peritoneum, Hepatomegaly, Ascites, Anemia, Testicular neopla... ORPHA:83469
Bresek Syndrome
Cryptorchidism, Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Vesicoureteral refl... ORPHA:85284
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Hydrolethalus Syndrome 1
Bifid uterus, Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Ventricular... OMIM:236680
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Renal agenesis, Hypoplasia of the bladder, Ventricular septal defect, Sex reversal, Hy... OMIM:611812
Premature Ovarian Failure 7
Absent pubic hair, Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis, Premature ... OMIM:612964
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Coach Syndrome 2
Elevated hepatic transaminase, Hepatic fibrosis, Congenital hepatic fibrosis, Hyperechogenic kidn... OMIM:619111
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Tetraamelia Syndrome 1
Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian tube, Absent external genit... OMIM:273395
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Mitr... ORPHA:2183
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus, Hydrocephalus OMIM:258320
Abnormal renal morphology, Situs inversus totalis, Abnormal reproductive system morphology, Abnor... ORPHA:1666
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Renal hypoplasia, Hypospadias, Renal agenesis, Micropenis, Hydrocephalus ORPHA:171839
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Splenomegaly... OMIM:609981
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Genital ulcers OMIM:602450
Hyperaldosteronism, Familial, Type Iii
Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia OMIM:613677
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Ventriculomegaly, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increas... ORPHA:96181
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Micropht... OMIM:618652
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Microphthalmia, Abnormal localization of kidney ORPHA:195
Pentalogy Of Cantrell
Atrial septal defect, Renal agenesis, Ventricular septal defect, Polysplenia, Abnormal pericardiu... ORPHA:1335
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia ORPHA:2528
Biemond Syndrome Ii
Hydrocephalus, Abnormality of the endocrine system