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Gene: Naa10 MGI:1915255

Gene Summary

Name:

N(alpha)-acetyltransferase 10, NatA catalytic subunit

Synonyms:

2310039H09Rik, Te2, Ard1, Ard1a

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
small testis	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal lymph node morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal coat/hair pigmentation	Naa10^em1(IMPC)Mbp	HEM	Late adult	2.36×10^-08
increased circulating alkaline phosphatase level	Naa10^em1(IMPC)Mbp	HOM	Early adult	5.10×10^-05
abnormal liver morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
increased grip strength	Naa10^em1(IMPC)Mbp	HOM	Late adult	4.86×10^-07
decreased circulating bilirubin level	Naa10^em1(IMPC)Mbp	HOM	Late adult	4.45×10^-05
small kidney	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
decreased total body fat amount	Naa10^em1(IMPC)Mbp	HOM	Early adult	5.13×10^-05
enlarged heart	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal ovary morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
enlarged lymph nodes	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
enlarged kidney	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged kidney	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal coat/hair pigmentation	Naa10^em1(IMPC)Mbp	HEM	Early adult	8.05×10^-14
enlarged spleen	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
small spleen	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
decreased heart weight	Naa10^em1(IMPC)Mbp	HEM	Late adult	3.22×10^-07
abnormal coat/hair pigmentation	Naa10^em1(IMPC)Mbp	HOM	Middle aged adult	1.68×10^-13
abnormal skin morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal coat/hair pigmentation	Naa10^em1(IMPC)Mbp	HEM	Middle aged adult	1.87×10^-13
increased lean body mass	Naa10^em1(IMPC)Mbp	HOM	Early adult	4.24×10^-05
improved glucose tolerance	Naa10^em1(IMPC)Mbp	HOM	Late adult	3.07×10^-07
abnormal kidney morphology	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal kidney morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
abnormal seminal vesicle morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal trachea morphology	Naa10^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged seminal vesicle	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
microphthalmia	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal brain morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
hydrocephaly	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal skin morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal lymph node morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal testis morphology	Naa10^em1(IMPC)Mbp	HEM	Early adult	0.00
enlarged kidney	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal kidney morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal coat/hair pigmentation	Naa10^em1(IMPC)Mbp	HOM	Early adult	1.53×10^-16
abnormal uterus morphology	Naa10^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Naa10^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal adrenal gland morphology	Naa10^em1(IMPC)Mbp	HEM	Late adult	0.00
abnormal heart morphology	Naa10^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Naa10^em1(IMPC)Mbp	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.

X-ray

XRay Images Whole Body Dorso Ventral

72 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

28 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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.

Human diseases associated with Naa10 (4 diseases)
Human diseases predicted to be associated with Naa10 (1718 diseases)

The table below shows human diseases associated to Naa10 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Cardiomegaly, Bicuspid aortic valve, Ventriculomegaly, ...	OMIM:300855
Microphthalmia, Lenz Type	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism	ORPHA:568
Ogden Syndrome	Fine hair, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow	ORPHA:276432
Microphthalmia, Syndromic 1	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasi...	OMIM:309800

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

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Elevated circulating hepatic transaminase concentration, Cirrhosis, Tu...	OMIM:619902
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology	ORPHA:3416
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Hirsutism, Enlarged polycystic ovaries, Elevated circulating growth hormone conc...	ORPHA:90301
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones	ORPHA:564003
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Sclerosteosis	Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis	ORPHA:3152
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Pericardial effusion,...	OMIM:613885
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Ethanolaminosis	Cardiomegaly	OMIM:227150
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
Griscelli Syndrome, Type 2	Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation ...	OMIM:607624
Mueller-Weiss Syndrome	Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f...	ORPHA:566943
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J...	ORPHA:2485
Uncombable Hair Syndrome 3	Curly hair, Uncombable hair, Pili canaliculi, Brittle hair	OMIM:617252
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros...	OMIM:607634
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevu...	ORPHA:1008
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair	ORPHA:1355
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Lipoid Congenital Adrenal Hyperplasia	Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia	OMIM:201710
Lessel-Kubisch Syndrome	Premature graying of hair, Renal hypoplasia, Sparse pubic hair, Hypogonadism, Renal insufficiency	OMIM:618681
Uncombable Hair Syndrome 1	Uncombable hair, Pili canaliculi, Dry hair	OMIM:191480
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Crandall Syndrome	Brittle hair, Hypoplasia of penis, Abnormal testis morphology, Sparse body hair, Hypogonadism, Ap...	ORPHA:202
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Kerion Celsi	Lymphadenopathy, Alopecia	ORPHA:499
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noni...	ORPHA:97290
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ...	OMIM:166600
Intermediate Osteopetrosis	Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc...	ORPHA:210110
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
1Q21.1 Microduplication Syndrome	Hydrocephalus, Cryptorchidism, Tetralogy of Fallot, Hypospadias	ORPHA:250994
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis	OMIM:122860
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardi...	ORPHA:858
H Syndrome	Delayed puberty, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hyperpigmentation o...	ORPHA:168569
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Hirsutism, Low posterior...	OMIM:617303
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Meacham Syndrome	Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a...	OMIM:608978
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Proteinuria, Splenomegaly, Conjugated hy...	OMIM:620010
Beemer Lethal Malformation Syndrome	Hydrocephalus, Ambiguous genitalia	OMIM:209970
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat...	ORPHA:79414
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ...	ORPHA:90793
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro...	ORPHA:90791
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture	OMIM:620366
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys...	OMIM:144750
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath...	ORPHA:319487
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Dandy-Walker malformation, Gonadoblastoma, V...	OMIM:130650
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial...	OMIM:306955
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Low posterior hairline, Hypergonadotropic hypogonadism, Abnormality o...	ORPHA:2183
Autoimmune Polyendocrinopathy Type 1	Hypopigmented skin patches, Abnormal circulating calcium-phosphate regulating hormone concentrati...	ORPHA:3453
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Premature graying of hair	OMIM:616371
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Conjugated hyper...	OMIM:269920
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy...	OMIM:618280
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin...	OMIM:201910
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Griscelli Syndrome	Premature graying of hair, Hypopigmented skin patches, Jaundice, Hepatomegaly, Lymphadenopathy, E...	ORPHA:381
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Long-chain...	OMIM:608836
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr...	OMIM:201810
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Edinburgh Malformation Syndrome	Frontal hirsutism, Jaundice, Hydrocephalus	OMIM:129850
Congenital Rubella Syndrome	Atrial septal defect, Microphthalmia, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the i...	ORPHA:290
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Nephronophthisis 18	Nephronophthisis, Portal fibrosis, Hydrocephalus, Cholestasis, Thickened glomerular basement memb...	OMIM:615862
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Ventricular septal defect, Cystic r...	OMIM:613730
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis	OMIM:231095
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Testicul...	OMIM:235200
Nanophthalmos 2	Microphthalmia	OMIM:609549
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, Wide anterior fontanel, Thin bony cortex, Osteopenia	ORPHA:85184
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Hydrocephalus	OMIM:300886
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:277580
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U...	ORPHA:449395
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Wide anterior fontanel, Abnormal bone ossification, Delayed patel...	ORPHA:163649
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Hydrocephalus, Dandy-Walker m...	OMIM:220210
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia...	OMIM:314390
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Hypoplastic left atrium, Bicornuate uterus, Cryptorchidism, Ventric...	OMIM:615524
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis...	OMIM:103900
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Elevated circulating aspartate aminotransferase concent...	OMIM:607091
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Ambiguous genitalia, Hypospadias, Hydrocephalus, Adrenal hypoplasia, Microphallu...	OMIM:612651
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Hypopigmentation of hair, Pan...	ORPHA:79477
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Red hai...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Red hai...	ORPHA:71526
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Hydrocephalus, Dandy-Walker malformation, Bile duct prolif...	OMIM:607361
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Elevated circulating hepatic transaminase concentration...	ORPHA:54251
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ...	ORPHA:897
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Biemond Syndrome Type 2	Delayed puberty, Hypospadias, Hydrocephalus, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Mmep Syndrome	Microphthalmia, Ventricular septal defect, Cryptorchidism	ORPHA:3434
Schnitzler Syndrome	Increased bone mineral density, Arthritis	ORPHA:37748
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Communicating hydrocephalus, Ovarian cy...	OMIM:618188
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrocephalus, CSF lymphoc...	OMIM:610333
Ataxia-Telangiectasia	Premature graying of hair, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:100
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased ...	OMIM:615830
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased total bilirubin, Splenomegaly, Conjugated hype...	OMIM:619868
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone secretion, Chronic noninfe...	ORPHA:100083
Holoprosencephaly 5	Semilobar holoprosencephaly, Central diabetes insipidus, Alobar holoprosencephaly, Hydrocephalus,...	OMIM:609637
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventr...	ORPHA:335
Diaphanospondylodysostosis	Enlarged kidney, Hypoplastic fingernail, Abnormal liver lobulation, Nephroblastomatosis, Nephroge...	OMIM:608022
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Thick hair, Heavy proteinuria, Hydrocephalus, Patent foramen ovale, Hypertrophic...	ORPHA:505248
Obesity And Hypopigmentation	Red hair	OMIM:620195
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism	OMIM:202110
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Hydrocephalus, Cholestasis, Splenomegaly, Chronic kidney disease,...	OMIM:615630
Diabetic Embryopathy	Transposition of the great arteries, Ureteral duplication, Renal hypoplasia/aplasia, Hydrocephalu...	ORPHA:1926
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ...	ORPHA:731
Diencephalic Syndrome	Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Long penis	ORPHA:1672
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Hepatic fibrosis, Pancreatic fibrosis, Pol...	OMIM:200995
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Hyperpigmentation of the skin,...	OMIM:609981
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification	OMIM:215045
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopig...	ORPHA:177910
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:3437
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Hepatomegaly	OMIM:300884
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypoplastic toenails, Hydrocephalus, Sparse scalp hair, Low posterior hairline, Hypertrophic card...	ORPHA:2701
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Classic Mycosis Fungoides	Irregular hyperpigmentation, Hypopigmented skin patches, Hepatomegaly, Lymphadenopathy, Abnormali...	ORPHA:2584
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Absent pubic hair, Te...	ORPHA:99429
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert...	OMIM:202010
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Renal interstitial amyloid deposits, Hepatomegaly, Abnormal lymph node ...	ORPHA:85450
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Bresek Syndrome	Hydrocephalus, Vesicoureteral reflux, Hypoplasia of the bladder, Decreased testicular size, Renal...	ORPHA:85284
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Hypopigmentation of hair, Abnormal eyebrow morphology, General...	ORPHA:2221
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Glycogen Storage Disease Ia	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, ...	ORPHA:251004
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Abnormal circulating renin, Nephrolithiasis, Adrenal hyperplasia, Hypera...	ORPHA:369929
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:251274
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hirsutism, Renal cell...	ORPHA:189427
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:615297
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo...	ORPHA:97289
Kimura Disease	Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Cryptorchidism	ORPHA:261102
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenome...	OMIM:618541
Gómez-López-Hernández Syndrome	Hydrocephalus, Alopecia of scalp, Toenail dysplasia	ORPHA:1532
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Patholog...	OMIM:259700
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Increased serum testosterone level, Hydrocele testis, Ventriculomegaly, Con...	ORPHA:96181
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Hydrocephalus, Male pseudohermaphroditism, Abnormal ...	ORPHA:2075
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
X-Linked Sideroblastic Anemia	Glucose intolerance, Anemia, Splenomegaly	ORPHA:75563
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Hydrocephalus, Cryptorchidism, Ventriculomegaly, Ventricular septal defect, Horsesho...	OMIM:218350
Dyskeratosis Congenita, Autosomal Recessive 2	Nail dystrophy, Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombo...	OMIM:613987
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus	OMIM:166990
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Hydrocephalus, ...	OMIM:609757
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly, Conjugated h...	OMIM:214900
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Hypog...	OMIM:602390
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus, Adrenal medullary hypoplasia, Calcium oxalate nephrolithiasis	OMIM:248000
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal...	ORPHA:116
Alg9-Cdg	Atrial septal defect, Enlarged kidney, Hepatomegaly, Abnormal left ventricular outflow tract morp...	ORPHA:79328
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabetes mellitus, Hepatic st...	OMIM:612526
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Dysosteosclerosis	Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio...	ORPHA:1782
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Coronal craniosynostosis	OMIM:616943
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Diastrophic Dysplasia	Increased bone mineral density, Joint stiffness, Camptodactyly of finger, Joint hypermobility	ORPHA:628
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Meningocele, Hydrocephalus, Hypoplasia...	ORPHA:3376
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defec...	OMIM:618652
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Microphthalmia, Syndromic 9	Renal malrotation, Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic lef...	OMIM:601186
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus, Abnormal internal genitalia, Aplasia of the ...	OMIM:612284
Albers-Schönberg Osteopetrosis	Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibular osteomyeli...	ORPHA:53
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Generalized Glucocorticoid Resistance Syndrome	Frontal balding, Abnormal circulating testosterone concentration, Ambiguous genitalia, Hirsutism,...	ORPHA:786
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Renal cyst, Bi...	OMIM:611134
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Osteop...	OMIM:614856
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fibrosis, Chronic ne...	ORPHA:79259
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Mirage Syndrome	Anemia, Hypospadias, Recurrent urinary tract infections, Adrenal hypoplasia, Microphallus, Hyperg...	OMIM:617053
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi...	ORPHA:85188
Griscelli Syndrome Type 1	Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism	ORPHA:79476
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Ovotestis, Renal agenesis, Sex reversal, Hypoplasia of the bladder, Ventricular sept...	OMIM:611812
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism	OMIM:613677
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hypoplastic female external genitalia, Hydrocephalus, Long eyelashes, Ventriculomegaly, Cryptorch...	OMIM:618577
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal external genitalia, Microphthalmia	ORPHA:3469
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hypospadias, Congenital hypothyroidism, Diabetes mellitus, Cryptorchidism, Blue irides,...	OMIM:614613
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Spondyloepiphyseal Dysplasia Tarda	Localized osteoporosis, Limited elbow movement, Stiff knee, Hip osteoarthritis, Increased bone mi...	ORPHA:93284
Coach Syndrome 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Congenit...	OMIM:619111
Leprechaunism	Enlarged kidney, Hepatomegaly, Hyperinsulinemia, Clitoral hypertrophy, Fasting hypoglycemia, Long...	ORPHA:508
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ...	OMIM:219080
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Functioning Gonadotropic Adenoma	Abnormality of secondary sexual hair, Delayed puberty, Decreased response to growth hormone stimu...	ORPHA:91348
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Red hair, Decreased growth hormone respons...	OMIM:609734
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, H...	OMIM:612783
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal localization of kidney, Ventricular septal defect, Abnormal cardiac septu...	ORPHA:83473
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus	OMIM:258320
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Abnormal reproductive system morphology, Hypopigmentation of hair, Incr...	ORPHA:70472
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Coombs-positive hemolytic anemia, ...	OMIM:614034
Pentalogy Of Cantrell	Hypospadias, Anencephaly, Encephalocele, Hydrocephalus, Renal dysplasia, Renal agenesis, Abnormal...	ORPHA:1335
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Per...	OMIM:261740
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ...	OMIM:212140
Wolfram Syndrome 1	Hydroureter, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Hypothyroidism, Sidero...	OMIM:222300
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Hyperbilirubinemia, Portal hyper...	OMIM:616278
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t...	OMIM:618886
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Hydrocephalus, Renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis	ORPHA:171839
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Fanconi Anemia, Complementation Group I	Microphthalmia, Decreased response to growth hormone stimulation test, Abnormal renal morphology,...	OMIM:609053
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Temple Syndrome	Decreased response to growth hormone stimulation test, Hydrocephalus, Precocious puberty, Type II...	ORPHA:254516
Dextrocardia	Situs inversus totalis, Dextrocardia, Hydrocephalus, Abnormal renal morphology, Pancreatic hypopl...	ORPHA:1666
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl...	OMIM:259710
Biemond Syndrome Ii	Hydrocephalus, Abnormality of the endocrine system	OMIM:210350
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Greig Cephalopolysyndactyly Syndrome	Nail dysplasia, Hypospadias, Hydrocephalus, Hirsutism, Abnormal heart morphology, Ventriculomegal...	OMIM:175700
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos, Bicuspid aortic valve, Hors...	OMIM:619318
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Nanophthalmos	Microphthalmia	ORPHA:35612
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level	OMIM:274270
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Facial hirsutism, Abnormal vagina morphology, Hirsutism,...	ORPHA:247768
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Small nail	OMIM:619470
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Tetraamelia Syndrome 1	Hydrocephalus, Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Renal agene...	OMIM:273395
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Anencephaly, Hypospadias, Accessory spleen, Abnormal vagina morphology,...	OMIM:236680
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Mosaic Trisomy 9	Microphthalmia, Hypoplastic female external genitalia, Abnormal liver lobulation, Dextrocardia, H...	ORPHA:99776
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Hydrocephalus, Renal cyst, Abnormality of the ureter, Hydronephrosis, A...	ORPHA:1834
Syndromic Diarrhea	Abnormal heart morphology, Splenomegaly, Bicuspid aortic valve, Brittle hair, Polycystic kidney d...	ORPHA:84064
Bone Marrow Failure Syndrome 5	Nail dystrophy, Anemia, Erythroid hypoplasia, Reticular hyperpigmentation, Pure red cell aplasia,...	OMIM:618165
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Brittle hair, Hypopigmentation of the skin, Hypertrophic cardiomyo...	OMIM:252500
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Hyperpigmentation of the...	ORPHA:2035
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Splenic cyst, Abnormal peritoneum morphology, ...	ORPHA:400
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Hydrocephalus, Pelvic kidney, Dandy-Walker malformation, Cryptorchidism...	OMIM:613001
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, N...	OMIM:619644
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria	OMIM:619053
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Abnormal heart morphology, Colpocephaly	ORPHA:2185
Glycogen Storage Disease Ixb	Hypoglycemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Ovarian Dysgenesis 2	Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Dilated cardiomyopathy, Hepatic steatosis, Microcytic...	OMIM:618805
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hyperbilirubinemia, Hepatocellula...	ORPHA:158057
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Hypoketotic hypoglycemia, Cardiomegaly, Dilated c...	OMIM:600649
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hypoglycemia, Splenomegaly	ORPHA:664
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Increased bone density with cystic changes, Diaphyseal sclerosis	ORPHA:94089
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Nephroblastoma	Hematuria, Lymphadenopathy, Aniridia, Nephroblastoma, Neoplasm of the liver	ORPHA:654
3C Syndrome	Atrioventricular canal defect, Hypoplastic fingernail, Abnormal tricuspid valve morphology, Hypos...	ORPHA:7
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hydrocephalus, Hepatic f...	OMIM:614886
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Osteopathia Striata-Cranial Sclerosis Syndrome	Osteopetrosis, Spina bifida occulta, Increased bone mineral density, Coarse metaphyseal trabecula...	ORPHA:2780
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Cardiomegaly, Hyperpigmentation of the skin, Hepat...	ORPHA:465508
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, Adrenal hypoplasia, Bicornuate ute...	OMIM:264480
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Cardiomegaly, Bicuspid aortic valve, Ventriculomegaly, ...	OMIM:300855
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pericarditis, Hepatomegaly, Splenomegaly	ORPHA:163596
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Unilateral renal agenesis, Patent foramen ovale, Cryptorchidism, Renal hypoplasia...	OMIM:618494
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Decreased response to growth hormone stimulation test, Hepatomegaly, Lympha...	OMIM:602782
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Majeed Syndrome	Increased bone mineral density, Synovitis, Flexion contracture, Osteomyelitis, Increased suscepti...	ORPHA:77297
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Microphthalmia, Ventricular septal defect, Leukemia	OMIM:602501
Trisomy 1Q	Ambiguous genitalia, Congenital megaureter, Hydrocephalus, Cryptorchidism, Hydronephrosis, Aplasi...	ORPHA:261344
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os...	OMIM:112250
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	OMIM:301108
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conce...	ORPHA:1454
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Trisomy 13	Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormality of the ureter, Cryptorc...	ORPHA:3378
Partial Androgen Insensitivity Syndrome	Abnormality of secondary sexual hair, Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermi...	ORPHA:90797
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite...	ORPHA:36412
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus, Absent pubic hair	OMIM:612964
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypopigmentation of the skin, Hypogonadism, Hypothalamic luteinizing hormo...	ORPHA:398079
Congenital Respiratory-Biliary Fistula	Tracheal stenosis	ORPHA:2040
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi...	ORPHA:79312
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Hyperconvex nail, Prominent ey...	ORPHA:353298
Squalene Synthase Deficiency	Hypospadias, Increased circulating farnesol concentration, Elbow flexion contracture, Abnormality...	OMIM:618156
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Ectopic kidney, Hydrocephalus, Renal agenesis, Lateral ventricle dilatation...	OMIM:602200
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Nanophthalmos 4	Microphthalmia	OMIM:615972
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co...	OMIM:615954
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Osteoporosis, Ankylosis, Recurrent fractures	OMIM:239000
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hematuria	OMIM:120433
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Tracheal stenosis, Hypoplasia of penis, Abnormal hair morphology	OMIM:601427
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormally large globe, Abnormal fallopian tube morphology, Abnormal renal morpholo...	ORPHA:1655
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow...	ORPHA:549
Trisomy 17P	High anterior hairline, Broad eyebrow, Hypoplasia of penis, Hydrocephalus, Polycystic kidney dysp...	ORPHA:261290
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agen...	OMIM:617914
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hypertrophic cardiomyopathy, Splenomega...	ORPHA:79083
Lig4 Syndrome	Hepatomegaly, Lymphadenopathy, Hypoplasia of penis, Hypothyroidism, Low anterior hairline, Type I...	ORPHA:99812
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Proteus-Like Syndrome	Irregular hyperpigmentation, Hydrocephalus, Heterochromia iridis, Communicating hydrocephalus, Sp...	ORPHA:2969
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Increased urinary potassium, Glucocortoco...	ORPHA:231580
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Cryptorchidism, Hypogonadism	OMIM:601794
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Restrictive cardiomyop...	ORPHA:160
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Satoyoshi Syndrome	Mildly elevated creatine kinase, Alopecia universalis, Hypoplasia of the uterus, Alopecia	OMIM:600705
Carney Complex, Type 1	Multiple lentigines, Thyroid carcinoma, Red hair, Pheochromocytoma, Hirsutism, Cardiac myxoma, Th...	OMIM:160980
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Distal Triplication 15Q	Abnormality of the kidney, Hydrocephalus, Polycystic kidney dysplasia, Dandy-Walker malformation,...	ORPHA:314588
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Fried Syndrome	Hydrocephalus	ORPHA:85335
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Omenn Syndrome	Hepatomegaly, Lymphadenopathy, Thyroiditis, Nephrotic syndrome, Hypothyroidism, Splenomegaly, Apl...	ORPHA:39041
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Hypoglyce...	OMIM:620609
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Membranous subvalvular aortic stenosis, Biliary tract abnormality, Type II diabet...	ORPHA:3191
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Insulin re...	ORPHA:2348
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal rena...	OMIM:227650
Pallister-Hall-Like Syndrome	Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Renal dysplasia, Micropenis	OMIM:241800
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly	OMIM:617967
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Renal hypoplasia, Abnormal heart morphology, Hydrocephalus	OMIM:276950
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Combined Oxidative Phosphorylation Deficiency 10	Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Hypoglycemia	OMIM:614702
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the ...	ORPHA:2547
Fanconi Anemia, Complementation Group F	Microphthalmia, Decreased response to growth hormone stimulation test, Anemia, Pelvic kidney, Ves...	OMIM:603467
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Scrub Typhus	Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Sézary Syndrome	Irregular hyperpigmentation, Nail dystrophy, Hepatomegaly, Lymphadenopathy, Splenomegaly, Alopecia	ORPHA:3162
B4Galt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Dandy-Walke...	ORPHA:79332
Papa Syndrome	Proteinuria, Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytop...	OMIM:600901
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
47,Xyy Syndrome	Increased serum testosterone level, Hypospadias, Azoospermia, Hydrocephalus, Oligozoospermia, Var...	ORPHA:8
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Emanuel Syndrome	Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Recurrent urinary tract infe...	OMIM:609029
Czeizel-Losonci Syndrome	Dextrocardia, Congenital megaureter, Spina bifida occulta, Hydrocephalus, Hypoplastic nipples, My...	ORPHA:2437
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Mullerian Aplasia And Hyperandrogenism	Aplasia of the vagina, Abnormal external genitalia, Hirsutism, Aplasia of the uterus, Aplasia of ...	OMIM:158330
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia	OMIM:300887
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Refsum Disease	Cardiomyopathy, Microphthalmia, Renal insufficiency, Splenomegaly	ORPHA:773
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Absent pubic hair, Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism...	OMIM:614841
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastoma	OMIM:253250
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Neonatal Lupus Erythematosus	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hydrocephalus, Abnormal he...	ORPHA:398124
Helsmoortel-Van Der Aa Syndrome	High anterior hairline, Enlarged kidney, Decreased response to growth hormone stimulation test, R...	OMIM:615873
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal vagina ...	ORPHA:3440
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Highly arched eyebrow, Hydrocephalus, Vesicoureteral reflux, Secundum ...	OMIM:619951
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatic steatosis, Hepatomegaly, Hydroc...	ORPHA:228308
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Anencephaly, Encephalocele, Accessory spleen, Hydro...	ORPHA:564
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
6P22 Microdeletion Syndrome	Hydrocephalus, Hydronephrosis	ORPHA:251046
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy, Alopecia, Hypothyroidism, Ventriculomegaly, Type I diabetes mellitus, Hepatitis,...	OMIM:304790
Poems Syndrome	Leukonychia, Hepatomegaly, Lymphadenopathy, Hyperpigmentation of the skin, Abnormality of the end...	ORPHA:2905
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Splenomegaly, Duplication of renal pelvis, Tr...	OMIM:312870
Myotonic Dystrophy 1	Hypogonadism, Frontal balding, Testicular atrophy, Cholelithiasis	OMIM:160900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Broad eyebrow, Synophrys	OMIM:618302
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Thyroid Lymphoma	Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter	ORPHA:97285
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Glycogen Storage Disease Ixa1	Hypoglycemia, Hepatomegaly, Splenomegaly	OMIM:306000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Dandy-Walker malformation, Low anterior hairline, Left ventricular hypertrophy, Ve...	OMIM:613153
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Ascites, Abnormality of the ovary, Peritonitis, Gonadal calcifi...	ORPHA:314473
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Laryngotracheoesophageal Cleft Type 4	Cachexia, Tracheoesophageal fistula, Tracheal stenosis	ORPHA:93941
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Hypertr...	OMIM:201475
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Anem...	ORPHA:231222
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Multiple Sulfatase Deficiency	Hepatomegaly, Hydrocephalus, Mucopolysacchariduria, Abnormality of retinal pigmentation, Thick ey...	ORPHA:585
2,4-Dienoyl-Coa Reductase Deficiency	Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysi...	OMIM:616034
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Bicuspid aortic valve, Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardiomegaly, Elevated urinary 3-hydroxybutyri...	ORPHA:42
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypospadias, Hypoplasia of penis, Hydrocephalus, Cryptorchidism, Holoprosencephaly, Ventricular s...	ORPHA:77298
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Neurooculorenal Syndrome	Aqueductal stenosis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Unilateral renal ...	OMIM:620305
Neural Tube Defects, Susceptibility To	Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele	OMIM:182940
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytop...	OMIM:227645
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Edinburgh Malformation Syndrome	Hydrocephalus, Hirsutism, Low posterior hairline, Synophrys, Generalized hirsutism, Brushfield spots	ORPHA:1895
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Chylopericardium, Hydrocephalus, Abnormality of the l...	ORPHA:538
Stormorken Syndrome	Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Hydrocephalus, Hyperechogenic kidneys, Ventriculomegaly, Ventricular ...	OMIM:219730
Pycnodysostosis	Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal...	ORPHA:763
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:75234
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Tra...	ORPHA:500095
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Renal hypoplasia/aplasia, Rectovaginal fistula, Anophthalmia, Trunc...	ORPHA:2538
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Camurati-Engelmann Disease	Increased bone mineral density, Cortical thickening of long bone diaphyses, Sclerosis of skull ba...	OMIM:131300
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Dysosteosclerosis	Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap...	OMIM:224300
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Impaired glucose tolerance, Biliary tract a...	OMIM:137920
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
Satoyoshi Syndrome	Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe...	ORPHA:829
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Hypopigmentation of hair, Abnormality of hair texture, Vesicou...	ORPHA:96169
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme...	ORPHA:999
Cardiofaciocutaneous Syndrome	Atrial septal defect, Multiple lentigines, Dystrophic fingernails, Sparse or absent eyelashes, Br...	ORPHA:1340
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Temple Syndrome	Maturity-onset diabetes of the young, Hydrocephalus, Precocious puberty, Decreased testicular siz...	OMIM:616222
Mody	Abnormality of the kidney, Hepatocellular adenoma, Neonatal hypoglycemia, Pancreatic hypoplasia, ...	ORPHA:552
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Holoprosencephaly-Postaxial Polydactyly Syndrome	Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, Adrenal...	ORPHA:2166
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Ventriculomegaly	ORPHA:324416
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Lacrimal gland hypoplasia, Heterochromia i...	OMIM:613266
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Splenomegaly, Type II diabetes mellitus, Type I diabetes...	ORPHA:1133
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Proteus Syndrome	Irregular hyperpigmentation, Enlarged kidney, Lymphangioma, Splenomegaly, Thymus hyperplasia, Gen...	ORPHA:744
Chediak-Higashi Syndrome	Jaundice, Neutropenia, Hemophagocytosis, Hypopigmentation of hair, Silver-gray hair, Hepatomegaly...	OMIM:214500
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Aplastic/hypoplastic toenail, Hydrocephalus, Hypothyroidism, Aplasia/Hypopla...	ORPHA:1812
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Hydrocephalus, Dandy-Walker malformation, Sparse scalp hair, Enuresis,...	ORPHA:459061
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Abnormal ...	ORPHA:322
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hypothyroidism, Hepatosplenomegaly, Lymphadenopathy, Hypertrichosis	OMIM:619750
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:98754
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Hydrocephalus, Abnormal heart valve morphology, Dermatan sulfate excretion in urine...	OMIM:309900
Fanconi Anemia, Complementation Group D2	Annular pancreas, Ectopic kidney, Duplicated collecting system, Hydrocephalus, Pelvic kidney, Hyp...	OMIM:227646
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia, Anemia	OMIM:618838
Fryns Microphthalmia Syndrome	Unicornuate uterus, Microphthalmia, Anophthalmia	OMIM:600776
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Melanocytic nevus	OMIM:612247
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Pontocerebellar Hypoplasia, Type 7	Ambiguous genitalia, Hydrocephalus, Hirsutism, Hypopigmentation of the skin, Synophrys, Ventricul...	OMIM:614969
Houge-Janssens Syndrome 2	Hydrocephalus, Ventriculomegaly, Abnormal hair whorl, Unilateral renal agenesis	OMIM:616362
Emanuel Syndrome	Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Truncus arteriosus, Cryptorc...	ORPHA:96170
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy	OMIM:613155
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv...	ORPHA:168558
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Thanatophoric Dysplasia Type 2	Abnormality of the kidney, Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Atr...	ORPHA:93274
Vacterl/Vater Association	Congenital diaphragmatic hernia, Hypospadias, Hypoplasia of penis, Bifid scrotum, Tracheoesophage...	ORPHA:887
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Cryptorchidism, Abnormal heart morphology, Ve...	ORPHA:494344
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:98793
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Lymphopenia, Ascites, Nephrotic sy...	ORPHA:93552
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Small nail, Meningocele, Hydrocephalus, Abnor...	ORPHA:1908
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Werner Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis	ORPHA:902
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadeno...	OMIM:615895
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:177904
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyperkalemia, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in indiv...	ORPHA:289548
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Delayed puberty, Decreased circulating gonadotropin concentration, Hypopigmentation of the skin, ...	ORPHA:177901
Hec Syndrome	Vaginal hydrocele, Cardiomyopathy, Communicating hydrocephalus, Endocardial fibroelastosis	ORPHA:2119
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Ovarian Fibrothecoma	Ovarian fibroma, Ascites, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis,...	ORPHA:314478
Lowry-Maclean Syndrome	Atrioventricular canal defect, Hypospadias, Hydrocephalus, Generalized hypertrichosis, Abnormalit...	ORPHA:2409
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal tubular acidosis, Cardiomega...	OMIM:255120
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Whipple Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Hydrocephalus, Hypothyroidism, Pericardit...	ORPHA:3452
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Hematuria	ORPHA:1473
Coccidioidomycosis	Abnormality of the kidney, Abnormality of the female genitalia, Mediastinal lymphadenopathy, Lymp...	ORPHA:228123
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In...	ORPHA:99889
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Ectopic kidney, Unilateral renal agenesis, Acute myeloid leukemi...	OMIM:610832
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Hydrocephalus, Myoglobinuria, Polycystic kidney ...	ORPHA:157
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocytic nevi, Choroid plexus pa...	OMIM:249400
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Jung Syndrome	Low posterior hairline, Tracheal stenosis	ORPHA:2321
Mounier-Kühn Syndrome	Tracheal stenosis	ORPHA:3347
Tracheal Agenesis	Tracheal atresia	ORPHA:3346
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran...	ORPHA:244
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Increased total ...	OMIM:603553
Oculocerebrocutaneous Syndrome	Hypopigmented skin patches, Hydrocephalus, Dandy-Walker malformation, Abnormal fingernail morphol...	ORPHA:1647
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Dandy-Walker malformation, Hypertrophic cardiomyopathy, Cryptorchidism, Hypoplasti...	OMIM:612938
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Increased total bilirubin, Leu...	OMIM:267700
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Timothy Syndrome	Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Hypoglycemia, Ventricular septal defect	OMIM:601005
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia	OMIM:617244
Adams-Oliver Syndrome	Cirrhosis, Hypoplastic fingernail, Encephalocele, Aplastic/hypoplastic toenail, Hydrocephalus, Ab...	ORPHA:974
Pearson Syndrome	Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Pancreatic fibrosis, Hepatic steatosi...	ORPHA:699
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Abnormal heart morphology, Hypospadias, Cryptorchidism	OMIM:601499
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele	ORPHA:352682
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
1Q44 Microdeletion Syndrome	Hydrocephalus, Vesicoureteral reflux, Synophrys, Ventriculomegaly, Horseshoe kidney, Abnormal car...	ORPHA:238769
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Patent foramen ovale, Pulmonic stenosis, Renal hypoplasia, Lens coloboma	OMIM:618914
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He...	ORPHA:294
Cat Eye Syndrome	Microphthalmia, Tricuspid atresia, Biliary atresia, Vesicoureteral reflux, Total anomalous pulmon...	OMIM:115470
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Hypoglycemia, Abnormal concentration of acylcarnitine ...	ORPHA:391428
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Mosaic Variegated Aneuploidy Syndrome 1	Ambiguous genitalia, Hypospadias, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malfo...	OMIM:257300
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept...	OMIM:616897
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thyroiditi...	ORPHA:139402
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly, Dilated cardiomyopathy	ORPHA:272
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Anaplastic Thyroid Carcinoma	Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Congenital Sialidosis Type 2	Abnormality of the kidney, Hepatomegaly, Hydrocephalus, Generalized hypertrichosis, Abnormal hear...	ORPHA:93400
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Atrial septal defect, Horseshoe kidney	OMIM:614846
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, External genital hypoplasia, Hypopigmentation of hair, Small pituitary gland,...	ORPHA:398069
Seckel Syndrome 2	Microphthalmia, Ectopic kidney, Hypospadias	OMIM:606744
Hurler-Scheie Syndrome	Inguinal hernia, Hirsutism, Umbilical hernia, Camptodactyly of finger, Contracture of the distal ...	OMIM:607015
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Abnormal heart valve morphology, P...	ORPHA:781
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis	OMIM:618476
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypo...	OMIM:617666
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Dyskeratosis Congenita, Autosomal Dominant 2	Nail dysplasia, Premature graying of hair, Nail dystrophy, Aplastic anemia, Pancytopenia, White f...	OMIM:613989
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Hyperuricosuria, Testicular atrophy	OMIM:300322
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, S...	ORPHA:100093
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, Cryptorchidism, Elevated circulating hepatic transamina...	OMIM:310400
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Papillorenal Syndrome	Microphthalmia, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithi...	OMIM:120330
Meckel Syndrome, Type 1	Occipital encephalocele, Ambiguous genitalia, male, Anencephaly, Splenomegaly, Ventriculomegaly, ...	OMIM:249000
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Anencephaly, Periportal fibrosis, Hydrocephalus, Patent foramen ovale, Hypoplastic ...	OMIM:269860
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count	OMIM:259720
Multiple Sulfatase Deficiency	Hepatomegaly, Hydrocephalus, Increased CSF protein concentration, Mucopolysacchariduria, Splenome...	OMIM:272200
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Jaundice, Elevated circulating hepatic trans...	ORPHA:540
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Optic Pathway Glioma	Hydrocephalus, Precocious puberty	ORPHA:2086
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Neonatal hypoglycemi...	OMIM:619418
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Prader-Willi Syndrome	Small pituitary gland, Decreased circulating gonadotropin concentration, Hypopigmentation of the ...	ORPHA:739
Adams-Oliver Syndrome 2	Small nail, Hydrocephalus, Low anterior hairline, Lateral ventricle dilatation, Alopecia	OMIM:614219
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Dyskeratosis Congenita	Premature graying of hair, Hypermelanotic macule, Nail dystrophy, Neoplasm of the pancreas, Aplas...	ORPHA:1775
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Dandy-Walker Malformation With Postaxial Polydactyly	Aortic valve stenosis, Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus	OMIM:220220
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcin...	OMIM:300755
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Microcephaly 30, Primary, Autosomal Recessive	Cafe-au-lait spot, Inguinal hernia, Tracheal stenosis	OMIM:620183
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f...	OMIM:258040
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Microphthalmia, Cryptorchidism	OMIM:214150
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve, Cryptorchidism, Micropenis	OMIM:243310
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
Oxoglutaric Aciduria	Hydrocephalus, Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Marden-Walker Syndrome	Microphthalmia, Dextrocardia, Hypospadias, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:248700
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly, Atrial septal defect, Abnormality of the kidney	ORPHA:2655
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Elevated circulat...	ORPHA:97287
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Nail dystrophy, Absent peripheral lymph nodes in presence of infection, Sparse hair	ORPHA:98813
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis	OMIM:259730
Kaposi Sarcoma	Abnormality of the liver, Hypermelanotic macule, Generalized lymphadenopathy, Abnormality of the ...	ORPHA:33276
Fanconi Anemia, Complementation Group B	Hydrocephalus, Hypergonadotropic hypogonadism, Renal agenesis, Hypogonadism, Ventriculomegaly, Ve...	OMIM:300514
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Ascit...	OMIM:251880
Hurler Syndrome	Hepatomegaly, Hydrocephalus, Hirsutism, Cardiomyopathy, Dermatan sulfate excretion in urine, Enla...	OMIM:607014
Hurler Syndrome	Hepatomegaly, Hydrocephalus, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiom...	ORPHA:93473
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611561
Fanconi Anemia	Irregular hyperpigmentation, Renal hypoplasia/aplasia, Abnormal renal morphology, Hypogonadism, V...	ORPHA:84
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypopigmented skin patches, Abnormal female external genitalia morphology, Multiple cafe-au-lait ...	ORPHA:2637
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic ...	ORPHA:2328
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Subependymal nodules, Pheochromocytoma, Pituitary adenoma, Parathyroid adeno...	ORPHA:805
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair, Cardiomyopathy, Communicating hydrocephalus, Nephrocalcinosis, Splenomegaly, Aminoa...	OMIM:616084
Chondrodysplasia Punctata 2, X-Linked Dominant	Patchy alopecia, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Sparse hair, Elevated 8(9)-...	OMIM:302960
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Thrombocytopenia, Hepatosplenomegaly, Left ventricular...	ORPHA:79330
Doors Syndrome	Ambiguous genitalia, Toenail dysplasia, Spina bifida occulta, Dandy-Walker malformation, Absent f...	ORPHA:79500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Fasting hypoglycemia, Renal tubular acid...	ORPHA:79240
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria, Small scrotum, Atrial septal defect, C...	ORPHA:2728
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Mucopolysaccharidosis Type 1	Abnormal aortic valve morphology, Hydrocephalus, Abnormal heart valve morphology, Abnormality of ...	ORPHA:579
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Hydrocephalus, Abnormal heart valve morphology, Hirsutism, Cardiomyopathy, Dermatan...	OMIM:253220
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia	OMIM:617883
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Abnormality of the ovary, Decreased testicular size, Biliary tract abn...	OMIM:209900
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Hydrocephalus, Hypopigmentation of hair	ORPHA:53271
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Lissencephaly 5	Hydrocephalus, Occipital encephalocele	OMIM:615191
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepatitis, Chronic he...	OMIM:614921
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Melanocytic nevus, Albinism, Freckling, F...	OMIM:203300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Autoimmune Hepatitis	Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular...	ORPHA:2137
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Anemia, Abnormal leukocyte morphology, Sparse scalp ha...	ORPHA:3322
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath...	ORPHA:231214
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Hyperinsulinemia, Ventricular septal hypertrophy, Clitoral hypertrophy, ...	OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Hyperinsulinemia, Clitoral hypertrophy, Acute pancreatitis, Nephrolithia...	OMIM:608594
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Microphthalmia, Anemia, Accessory spleen, Patent foramen ovale, Portal hype...	OMIM:620005
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Tracheal atresia	OMIM:601612
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Hydrocephalus, Abnormality of the liver, Ventriculomegaly	ORPHA:2169
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Knobloch Syndrome	Occipital encephalocele, Dextrocardia, Abnormal hair morphology, Hydrocephalus, Vesicoureteral re...	ORPHA:1571
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Joubert Syndrome 14	Encephalocele, Meningocele, Highly arched eyebrow, Hydrocephalus, Dandy-Walker malformation, Rena...	OMIM:614424
Sarcoidosis	Decreased liver function, Hypopigmentation of the skin, Nephrocalcinosis, Abnormal reproductive s...	ORPHA:797
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormality of the kidney, Abnormal salivary gland morphology, Prostati...	ORPHA:449432
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Ureterocele, Sparse axillary hair, Urethral stenosis, Transverse vaginal septum, ...	OMIM:604292
Lenz-Majewski Hyperostotic Dwarfism	Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de...	ORPHA:2658
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H...	OMIM:610377
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Hypopigmentation of the skin,...	OMIM:219800
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Ureteral triplication, Absent nipple, Hydronephrosis, Mitral valve prolapse	OMIM:104350
12Q14 Microdeletion Syndrome	Osteopoikilosis	ORPHA:94063
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Frontonasal Dysplasia 1	Microphthalmia, Tetralogy of Fallot	OMIM:136760
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Abnormality of the nail, Hydrocephalus, Bifid scrotum, Prominent scrotal raphe, Melanocytic nevus...	ORPHA:1555
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Fg Syndrome Type 1	Frontal upsweep of hair, Hypospadias, Small pituitary gland, Hydrocephalus, Mitral valve prolapse...	ORPHA:93932
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly	OMIM:617713
Kabuki Syndrome	Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Highly ...	ORPHA:2322
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hepatomegaly, Hypopigmentation of hair, He...	ORPHA:163746
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Increased bone mineral density, Synostosis of carpal bones, Camptodactyly of f...	ORPHA:90652
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf...	ORPHA:3214
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Atrial septal defect, Ventricular septal defect, Abno...	OMIM:244300
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Microphthalmia, Beta-alaninuria, Elevated urinary 3-hydrox...	OMIM:614105
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:101800
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Decreased serum testosterone concentration, Elevated c...	OMIM:305400
X-Linked Hypophosphatemia	Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob...	ORPHA:89936
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Keutel Syndrome	Tracheal atresia, Alopecia	ORPHA:85202
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Cardiofaciocutaneous Syndrome 1	Multiple lentigines, Hyperpigmentation of the skin, Slow-growing hair, Hydrocephalus, Absent eyel...	OMIM:115150
Trisomy 8P	Annular pancreas, Abnormal left ventricle morphology, Hydrocephalus, Dandy-Walker malformation, H...	ORPHA:264450
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi...	ORPHA:77259
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Thick hair, Recurrent tonsillitis, Hydrocephalus,...	ORPHA:581
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Clitoral hypertrophy, Hypospadias, Hydronephrosis, Atrial septal defect, Ventricu...	OMIM:616449
Marden-Walker Syndrome	Epispadias, Situs inversus totalis, Abnormal anatomic location of the heart, Renal hypoplasia/apl...	ORPHA:2461
Chromosome 6Q24-Q25 Deletion Syndrome	Atrial septal defect, Medial flaring of the eyebrow, Dysplastic pulmonary valve, Hydrocephalus, L...	OMIM:612863
Hydrolethalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Anencephaly	OMIM:614120
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Osteootohepatoenteric Syndrome	Portal fibrosis, Hydrocephalus, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal...	OMIM:619377
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Hirsutism, Abnormal heart morphology, Cryptorchidism	ORPHA:1865
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Histiocytoid Cardiomyopathy	Microphthalmia, Hepatomegaly, Congenital aphakia, Renal cyst, Cardiomegaly, Hypoglycemia, Ventric...	ORPHA:137675
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Spondylo-Ocular Syndrome	Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens	ORPHA:85194
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Renal artery aneurysm, Leukocytosis, Portal ...	OMIM:615688
Cushing Disease	Hyperpigmentation of the skin, Hirsutism, Sparse scalp hair, Adrenal hyperplasia, Pituitary corti...	ORPHA:96253
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Tetralogy ...	ORPHA:2059
Pelvis-Shoulder Dysplasia	Facial hirsutism, Hydranencephaly, Hydrocephalus, Spina bifida, Hydronephrosis, Ambiguous genitalia	ORPHA:2839
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones	OMIM:127000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Abnormal heart morphology, Ventricular septal defect, Cryptorchidism	ORPHA:404440
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Large Congenital Melanocytic Nevus	Hypopigmented skin patches, Congenital giant melanocytic nevus, Hydrocephalus, Abnormality of ski...	ORPHA:626
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Lateral Meningocele Syndrome	Meningocele, Hydrocephalus, Neurogenic bladder, Cryptorchidism, Bicuspid aortic valve, Ventricula...	OMIM:130720
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Highly arched eyebrow, Hydrocephalus, Dandy-Walker malformati...	ORPHA:2162
Middle Ear Neuroendocrine Tumor	Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm	ORPHA:100084
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis	ORPHA:35687
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus	ORPHA:380
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Amed Syndrome, Digenic	Failure to thrive, Hypoplasia of the uterus, Hyperpigmentation of the skin	OMIM:619151
Monosomy 18Q	Pulmonary valve defects, Dysplastic pulmonary valve, Hydrocephalus, Absence of the pulmonary valv...	ORPHA:1600
Hydrolethalus	Hydrocephalus, Cryptorchidism, Anencephaly, Abnormal fallopian tube morphology	ORPHA:2189
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Bifid scrotum, Colpocephaly, Splenomegaly, Small scrotum, Septate vagi...	OMIM:270400
Trichothiodystrophy	Increased bone mineral density, Craniosynostosis, Multiple joint contractures, Osteopenia	ORPHA:33364
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia, Hypothyroidism, Left ventricular hypert...	ORPHA:90065
Chromosome 6Pter-P24 Deletion Syndrome	Frontal upsweep of hair, Hydrocephalus, Dandy-Walker malformation, Patent foramen ovale, Tetralog...	OMIM:612582
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Micro Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia, Hydronephrosi...	ORPHA:2510
Koolen-De Vries Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Bicus...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypopigmentation of the skin, Cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, Bicus...	ORPHA:363958
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal renal tubule morphology, Hydrocephalus, Generalized hypopigmentation, White hair, Iris h...	ORPHA:2720
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Raine Syndrome	Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita	OMIM:259775
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Tenorio Syndrome	Hydrocephalus, Hypoinsulinemia, Enuresis, Thick eyebrow, Ventriculomegaly, Hypertrichosis	OMIM:616260
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Degcags Syndrome	Premature graying of hair, Hypopigmentation of the skin, Abnormal spleen morphology, Low posterio...	OMIM:619488
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:603194
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Dandy-Walker malformation, Pericardial effusion, Small scrotum, Ventriculomegaly, ...	OMIM:617822
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le...	ORPHA:57777
Crouzon Syndrome	Hypopigmented skin patches, Hydrocephalus, Melanocytic nevus	ORPHA:207
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Isosexual precocious puberty	ORPHA:2788
Orofaciodigital Syndrome I	Hydrocephalus, Polycystic kidney dysplasia, Myelomeningocele, Abnormal heart morphology, Ovarian ...	OMIM:311200
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Patent foramen ovale, Cryptorchidism, Abnormal heart morphology, Ventri...	ORPHA:369891
Schwartz-Jampel Syndrome	Flexion contracture of toe, Increased bone mineral density, Shoulder flexion contracture, Abnorma...	ORPHA:800
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic ...	OMIM:619879
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Hypopigmentation of hair, Ureteral stenosis, Iris hypopigmentation, Cryptorchidism, Abnor...	ORPHA:2719
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia	ORPHA:3301
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Hydrocephalus, Long eyelashes, Thick eyebrow, Colpocephaly, Ventri...	OMIM:619833
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Ureterocele, Sparse axillary hair, Sparse hair, Transverse vaginal septum, Decrea...	OMIM:129900
Classic Phenylketonuria	Hyperphenylalaninemia, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Duane-Radial Ray Syndrome	Renal malrotation, Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Renal agenesis, ...	OMIM:607323
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Hydrocephalus, Histiocyto...	OMIM:309801
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Hydrocephalus, Pituitary ...	ORPHA:91350
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Hydranencephaly, Highly arched eyebrow, Hydrocephalus, Patent foramen ovale, Spleni...	OMIM:620371
Joubert Syndrome With Oculorenal Defect	Encephalocele, Highly arched eyebrow, Hydrocephalus, Nephropathy, Abnormality of the hypothalamus...	ORPHA:2318
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Dilated third ventricle, Hypogonadism, Ventriculomegaly, Cryptorchidism, Micropenis	ORPHA:500055
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Hyperbilirubinemia, Chronic hepatit...	ORPHA:39812
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Fryns Syndrome	Microphthalmia, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, ...	OMIM:229850
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi...	ORPHA:499009
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Lissencephaly 8	Microphthalmia	OMIM:617255
Joubert Syndrome With Renal Defect	Encephalocele, Highly arched eyebrow, Hydrocephalus, Nephropathy, Abnormality of the hypothalamus...	ORPHA:220497
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Jacobsen Syndrome	Annular pancreas, Hypospadias, Hydrocephalus, Labial hypoplasia, Abnormal eyelash morphology, Cry...	OMIM:147791
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Cardiomyopathy, Dilated fourth ventricle, Ventriculomegaly	ORPHA:370959
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Atrial septal defect, Microphthalmia	OMIM:611961
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Sandestig-Stefanova Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia	OMIM:618804
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis...	ORPHA:50918
Ring Chromosome 10 Syndrome	Microphthalmia, Renal hypoplasia/aplasia	ORPHA:1438
Intellectual Developmental Disorder, Autosomal Dominant 65	Low posterior hairline, Synophrys, Thin eyebrow, Noncommunicating hydrocephalus, Sparse hair	OMIM:619320
Walker-Warburg Syndrome	Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Cryptorchidism	ORPHA:899
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Generalized hypopigmentation, Hypoplasia of the ovary, Decreased testicular size, ...	OMIM:619321
Dubowitz Syndrome	Abnormal female external genitalia morphology, Hypoparathyroidism, Hypospadias, Spina bifida occu...	ORPHA:235
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Hydrocephalus, Enuresis, Long eyelashes, Cafe-au-lait spo...	ORPHA:96121
Glutaric Acidemia I	Glutaric aciduria, Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation, Ketonuria	OMIM:231670
Joubert Syndrome 2	Nephronophthisis, Encephalocele, Hydrocephalus, Hypoplastic male external genitalia, Renal cyst, ...	OMIM:608091
Hajdu-Cheney Syndrome	Delayed puberty, Hepatomegaly, Hypospadias, Hydrocephalus, Synophrys, Aortic valve stenosis, Abno...	ORPHA:955
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Anencephaly, Hypospadias, Hydrocephalus, Ren...	OMIM:313850
Hemangioblastoma	Hydrocephalus, Neurogenic bladder	ORPHA:252054
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism, Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Perrault Syndrome 3	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:614129
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C...	OMIM:619991
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Pallister-Hall Syndrome	Microphthalmia, Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidne...	OMIM:146510
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly	ORPHA:2182
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Mitral valve prolapse, Hypogonadis...	ORPHA:251066
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Fucosidosis	Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly	ORPHA:349
22Q11.2 Deletion Syndrome	Multiple renal cysts, Splenomegaly, Tricuspid atresia, Hypospadias, Meningocele, Hydrocephalus, P...	ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hydrocephalus, Cryptorchidism, Hydronephrosis, Aplasia/Hypoplasia of the nails, Abse...	ORPHA:163979
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal...	ORPHA:33226
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Abnormal renal morphology, Fused labia minora, Vaginal atresia, Atrial septal defe...	OMIM:207410
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Warburg Micro Syndrome 3	Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis	OMIM:614222
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Hypomandibular Faciocranial Dysostosis	Abnormal morphology of female internal genitalia, Tracheal stenosis	ORPHA:1790
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Waardenburg Syndrome, Type 2E	Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, White forelock, Cafe...	OMIM:611584
Plasminogen Deficiency, Type I	Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Nephritis, Ventriculomegaly	OMIM:217090
Desmosterolosis	Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand	OMIM:602398
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Hypoplasminogenemia	Abnormal fallopian tube morphology, Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Ab...	ORPHA:722
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Small pituitary gland	OMIM:614195
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Pathologic fracture	OMIM:259900
Hydrocephaly-Low Insertion Umbilicus Syndrome	Abnormality of the urinary system, Anomalous pulmonary venous return, Tetralogy of Fallot, Commun...	ORPHA:2184
Gaucher Disease	Delayed puberty, Cirrhosis, Hepatomegaly, Hematuria, Cholelithiasis, Hydrocephalus, Abnormal hear...	ORPHA:355
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hyperpigmentation of th...	ORPHA:293173
Hajdu-Cheney Syndrome	Hypospadias, Hydrocephalus, Polycystic kidney dysplasia, Hirsutism, Renal cyst, Synophrys, Long e...	OMIM:102500
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl...	ORPHA:29073
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Mosaic Trisomy 1	Microphthalmia, Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Ventricul...	ORPHA:1692
Fraser Syndrome 1	Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Small nail, Hydroceph...	OMIM:219000
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Urinary incontinence, Splenomegaly	OMIM:232300
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Pulmonic stenosis, Left ve...	OMIM:619148
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Polycystic kidney dysplasia, Choroid plexus cyst, Hyperechogenic kidneys, Ventricu...	OMIM:617866
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellula...	OMIM:614083
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Epispadias, Tricuspid valve prolapse, Clitoral hypertrophy, Hypospadi...	ORPHA:2556
Rhombencephalosynapsis	Hydrocephalus, Ventriculomegaly, Abnormality of the uterus, Abnormal renal morphology	ORPHA:59315
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones	OMIM:620558
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Reduced bone mineral density, Ectopic ossification, Hyperostosis ...	ORPHA:79443
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Atrial septal defect, Ventricular septal defect	OMIM:603387
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Small nail, Highly arched eyebrow, Hydrocephalus, Abnormal renal morphology, Abnormal heart morph...	OMIM:239300
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,...	ORPHA:565612
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation, Ventricular septal defect	OMIM:147800
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Vesicoureteral reflux, Hydronephrosis, Cryptorchidism, Abnormal cardiac septum mor...	ORPHA:250989
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Frontal balding, Precocious puberty in fe...	ORPHA:90794
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Abnormality of skin pigmentation	ORPHA:2180
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Elevated urinary catecholamine level, Elevated ur...	ORPHA:653
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly, Ventriculomeg...	OMIM:615219
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Vacterl With Hydrocephalus	Aqueductal stenosis, Renal hypoplasia/aplasia, Abnormal fallopian tube morphology, Hydrocephalus,...	ORPHA:3412
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints	ORPHA:50945
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Cardiom...	ORPHA:90324
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Tricuspid stenosis, Sma...	ORPHA:100078
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Pseudoaminopterin Syndrome	Highly arched eyebrow, Hydrocephalus, Patent foramen ovale, Sparse scalp hair, Asplenia, Frontal ...	ORPHA:221120
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cryptorchidism, Hernia, Hypospadias, Tracheal stenosis	OMIM:217980
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Renal dysplasia, Microphthalmia, Abnormal heart morphology	OMIM:618571
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Ectopic ossification	ORPHA:79444
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Pendred Syndrome	Tracheal stenosis	ORPHA:705
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect, Cryptorchidism	OMIM:619135
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Microphthalmia, Lenz Type	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism	ORPHA:568
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Brittle Cornea Syndrome 1	Atypical scarring of skin, Red hair, Dentinogenesis imperfecta	OMIM:229200
Chédiak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hypopigmentation of hair, Pancytopenia, Abnormal natural kill...	ORPHA:167
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Opitz-Kaveggia Syndrome	Hypospadias, Hydrocephalus, Cryptorchidism, Abnormal heart morphology, Sparse hair, Frontal upswe...	OMIM:305450
Perrault Syndrome 4	Hypoplasia of the ovary, Obesity, Hypoplasia of the uterus, Bicornuate uterus	OMIM:615300
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Microcytic anemia	OMIM:612379
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Dextrocardia, Spina bifida occulta, Hydrocephalus, Neurogenic bladder, My...	OMIM:613686
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Microphthalmia, Hypospad...	ORPHA:508498
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Martsolf Syndrome 1	Microphthalmia, Cardiomyopathy, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Craniopharyngioma	Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Hydrocephalus, Pituitary h...	ORPHA:54595
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Bicornuate uterus, Azoospermia	OMIM:601076
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton...	OMIM:249100
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Adrenal o...	ORPHA:139411
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly, Atrial septal defect, Abnormality of the kidney	ORPHA:1860
Cockayne Syndrome A	Normal pressure hydrocephalus, Hepatomegaly, Renal insufficiency, Pigmentary retinopathy, Thymic ...	OMIM:216400
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Ascites, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmo...	ORPHA:2136
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus, Polycystic kidney dysplasia, Occipital meningocele, Ventriculomegaly,...	OMIM:616546
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myocardium morph...	ORPHA:32960
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Ventricular septal defect, Supernumerary nipple, Cryptorchidism	OMIM:612530
Beare-Stevenson Cutis Gyrata Syndrome	Hypoplastic fingernail, Hypospadias, Small nail, Hydrocephalus, Bifid scrotum, Prominent scrotal ...	OMIM:123790
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hyp...	OMIM:241080
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Cousin Syndrome	Ambiguous genitalia, male, Facial hirsutism, Hydranencephaly, Hydrocephalus, Hydronephrosis, Low ...	OMIM:260660
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly, Synophrys	OMIM:620156
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd...	OMIM:615287
Joubert Syndrome	Situs inversus totalis, Encephalocele, Highly arched eyebrow, Hydrocephalus, Abnormality of the h...	ORPHA:475
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Atria...	ORPHA:464738
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S...	OMIM:239200
Hermansky-Pudlak Syndrome	Neutropenia, Hypopigmentation of hair, Hypopigmentation of the skin, Long eyelashes, Iris hypopig...	ORPHA:79430
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Microphthalmia	ORPHA:435638
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100075
Intellectual Developmental Disorder, Autosomal Dominant 70	Highly arched eyebrow, Hydrocephalus	OMIM:620157
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Chiari Malformation Type Ii	Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida	OMIM:207950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ...	OMIM:613154
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Chronic pancreatitis, Cardiomyopathy, Splenomegaly, Diabetes mellitus, Hepatic stea...	OMIM:610717
Chromosome 17P13.1 Deletion Syndrome	Highly arched eyebrow, Hydrocephalus, Spina bifida, Synophrys, Low anterior hairline, Hydrocele t...	OMIM:613776
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
3Q29 Microdeletion Syndrome	Microphthalmia, Subvalvular aortic stenosis, Horseshoe kidney, Hypospadias	ORPHA:65286
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis	OMIM:307000
Fraser Syndrome 3	Small scrotum, Hypoplasia of penis, Hydrocephalus, Bilateral renal agenesis, Ureteral agenesis, H...	OMIM:617667
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cryptorchidism, Precocious puberty, Cardiomegaly, Ventricular septal defect, Labial...	ORPHA:96191
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ...	ORPHA:100086
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Joubert Syndrome With Ocular Defect	Dextrocardia, Encephalocele, Highly arched eyebrow, Hydrocephalus, Abnormality of the hypothalamu...	ORPHA:220493
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Prader-Willi Syndrome Due To Translocation	Abnormality of the kidney, Decreased response to growth hormone stimulation test, External genita...	ORPHA:177907
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil...	ORPHA:31150
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathi...	OMIM:277400
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hepatomegaly, Hydrocephalus, Hirsutism, Cardiomyopathy, Dermatan sulfate exc...	OMIM:253200
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Smith-Lemli-Opitz Syndrome	Clitoral hypertrophy, Atrioventricular canal defect, Abnormality of the gallbladder, Hypospadias,...	ORPHA:818
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology	OMIM:612301
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia, Hydronephrosis, Microphthalmia	ORPHA:35173
Tetrasomy 9P	Jaundice, Dextrocardia, Biliary atresia, Hydrocephalus, Dandy-Walker malformation, Pilomatrixoma,...	ORPHA:3310
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Aymé-Gripp Syndrome	Breast hypoplasia, Hydrocephalus, Sparse scalp hair, Long eyelashes, Pericardial effusion, Perica...	ORPHA:1272
Kabuki Syndrome 1	Anoperineal fistula, Highly arched eyebrow, Hydrocephalus, Hirsutism, Ventricular septal defect, ...	OMIM:147920
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Lhermitte-Duclos Disease	Hydrocephalus, Trichilemmoma, Ovarian neoplasm, Neoplasm of the thyroid gland	ORPHA:65285
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Vici Syndrome	Atrial septal defect, Hypopigmentation of hair, Cardiomyopathy, Hypopigmentation of the skin, Abn...	OMIM:242840
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Highly arched eyebrow, Hypoplastic fifth toenail, Sparse scalp hair, Lo...	OMIM:615866
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Hypermelanotic macule	ORPHA:60040
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Cryptococcosis	Cirrhosis, Prostatitis, Mediastinal lymphadenopathy, Hydrocephalus, Peritonitis	ORPHA:1546
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Oculofaciocardiodental Syndrome	Microphthalmia, Mitral valve prolapse, Abnormal cardiac septum morphology	ORPHA:2712
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly	OMIM:109120
Thakker-Donnai Syndrome	Transposition of the great arteries, Rectovaginal fistula, Communicating hydrocephalus, Hydroneph...	ORPHA:1780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic stenosis, Myocardial ...	OMIM:253800
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome...	ORPHA:333
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Ascites, Vaginal neoplasm, Acute lymphoblastic leukemia, Nephroblastoma, Ambiguou...	ORPHA:1052
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Focal Dermal Hypoplasia	Microphthalmia, Renal hypoplasia/aplasia, Hypoplasia of the iris, Hydronephrosis, Ventricular sep...	ORPHA:2092
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, High anterior hairline, Hydrocephalus, Synophrys, Thick eyebrow, Low anterio...	OMIM:619512
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Hydrocephalus, Dysplastic aortic valve, Synophrys, Cryptorch...	OMIM:602535
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Abnormally large globe, Patent foramen ovale, Mitral valve prolapse, Left ...	OMIM:245600
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Periungual erythema, Paratracheal lymphadenopathy, Nailfold capillary tortuosity,...	OMIM:615934
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:139471
Limb-Mammary Syndrome	Nail dysplasia, Aplasia of the ovary, Breast aplasia, Hypoplastic nipples, Aplasia of the uterus,...	ORPHA:69085
Charge Syndrome	Microphthalmia, Pulmonic stenosis, Dysplastic tricuspid valve, Lymphopenia, Decreased response to...	OMIM:214800
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Ventricular septal defe...	OMIM:272950
Atypical Werner Syndrome	Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Increased bone min...	ORPHA:79474
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco...	ORPHA:100079
Tracheobronchopathia Osteochondroplastica	Tracheal stenosis	ORPHA:3348
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Highly arched eyebrow, Omphalocele, Clitoral hypoplasia, Sparse eyebrow, Spar...	OMIM:618419
Monosomy 18P	Microphthalmia	ORPHA:1598
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Crossed fused renal ectopia, Cry...	OMIM:300960
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Aortic valve atresia, Hydrocephalus, Dandy-Walker malfor...	OMIM:619895
Trisomy 18	Microphthalmia, Abnormality of the upper urinary tract, Cryptorchidism, Hydronephrosis, Atrial se...	ORPHA:3380
Acro-Renal-Ocular Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Optic disc hypoplasia, Vesicoureteral reflux, Tetralogy...	ORPHA:959
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Townes-Brocks Syndrome	Abnormality of the kidney, Microphthalmia, Hypospadias, Ectopic kidney, Hypoplasia of penis, Abno...	ORPHA:857
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Atrial septal defect, Muscular ventricular septal defect, Hydrocephalus, Polycystic kidney dyspla...	OMIM:210710
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Hydranencephaly	OMIM:225790
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Chromosome 17Q12 Deletion Syndrome	Nail dysplasia, Nail dystrophy, Small nail, Highly arched eyebrow, Aplasia of the vagina, Aplasia...	OMIM:614527
Cockayne Syndrome B	Normal pressure hydrocephalus, Hepatomegaly, Abnormal hair morphology, Renal insufficiency, Pigme...	OMIM:133540
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Lymphadenopathy, Hydrocephalus, Abnormality of hair texture, Splenomegaly, Abnormal...	ORPHA:667
Frontometaphyseal Dysplasia 2	Hirsutism, Camptodactyly, Hip contracture, Thick eyebrow, Low anterior hairline, Cryptorchidism, ...	OMIM:617137
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch...	ORPHA:308552
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Synophrys, Sparse eyebrow, Patchy h...	ORPHA:3063
Neurofibromatosis, Type I	Inguinal freckling, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Renal artery stenosis, ...	OMIM:162200
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Costello Syndrome	Lymphangiectasis, Thin nail, Hyperpigmentation of the skin, Hydrocephalus, Hypertrophic cardiomyo...	OMIM:218040
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Thyroiditis, Recurrent urinary tract infections, Hypothyroidism, Atypical or pro...	ORPHA:83471
Temtamy Syndrome	Microphthalmia	OMIM:218340
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Hypoplastic male external geni...	OMIM:236670
Microphthalmia With Limb Anomalies	Microphthalmia, Unilateral cryptorchidism, Anophthalmia	OMIM:206920
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Apert Syndrome	Hydrocephalus, Cryptorchidism, Hydronephrosis, Vaginal atresia, Overriding aorta, Ventriculomegal...	OMIM:101200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Hydrocephalus, Aplasia of the uterus, Ventricul...	ORPHA:457284
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Focal Dermal Hypoplasia	Nail dysplasia, Nail dystrophy, Ureteral duplication, Ridged nail, Hypopigmentation of the skin, ...	OMIM:305600
Cohen Syndrome	Microphthalmia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Neutropenia	ORPHA:193
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Abnormality of the lymphatic system, Neurogenic bladder, Abnormal heart morphology	ORPHA:137667
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Patent foramen ovale, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Unc...	OMIM:620186
Gorlin Syndrome	Hydrocephalus, Ovarian fibroma, Cardiac fibroma, Melanocytic nevus, Cryptorchidism, Hypogonadotro...	ORPHA:377
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Mitral valve prolapse, Macroorchidism	OMIM:618874
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Cholelithiasis, Azoospermia, Hydrocephalus, Bacterial endocarditis, Mitral valve...	ORPHA:2072
Cockayne Syndrome	Microphthalmia, Hepatomegaly, Urinary incontinence, Unilateral renal agenesis, Neurogenic bladder...	ORPHA:191
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Spondyloenchondrodysplasia With Immune Dysregulation	Hypermelanotic macule, Lymphadenopathy, Tubulointerstitial fibrosis, Hypothyroidism, Vitiligo, Hy...	OMIM:607944
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Fontaine Progeroid Syndrome	Small scrotum, Small nail, Hydrocephalus, Hypoplastic nipples, Absent nipple, Sparse scalp hair, ...	OMIM:612289
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Dandy-Walker malformation, Long eyelashes, Thick eyebrow, Ventriculomegaly	OMIM:617281
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Hydrocephalus, Vesicoureteral reflux, Bif...	OMIM:107480
Steinfeld Syndrome	Absent gallbladder, Microphthalmia, Abnormal heart morphology, Unilateral renal dysplasia	OMIM:184705
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Tetralogy of Fallot, Absent gallbladder, Septate vagina, Microp...	OMIM:617925
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Unilateral renal agenesis, Hydrocephalus, Low posterior hairline, Crypt...	ORPHA:261337
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Cartilage-Hair Hypoplasia	Hypocalcemia, Failure to thrive, Sparse eyebrow, Abnormality of retinal pigmentation, Sparse hair...	ORPHA:175
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Asplenia, Communicating hydrocephalus	OMIM:244400
15Q Overgrowth Syndrome	Hydrocephalus, Dandy-Walker malformation, Abnormal renal morphology, Hydronephrosis, Nephroblasto...	ORPHA:314585
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Omphalocele	ORPHA:2736
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri...	OMIM:617729
Solitary Median Maxillary Central Incisor	Microphthalmia, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ...	OMIM:147250
Atelis Syndrome 2	Microphthalmia, Hyperinsulinemia, Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thro...	OMIM:620185
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Behçet Disease	Glomerulopathy, Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Splenomegaly, Abnormal...	ORPHA:117
Spondyloepimetaphyseal Dysplasia, Krakow Type	Hydrocephalus, Atrial septal defect, Annular pancreas, Decreased serum insulin-like growth factor 1	OMIM:618162
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Pr...	ORPHA:51
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina	OMIM:146255
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia, Aplasia of the uterus, Uterus didelphys, Vaginal atresia, Se...	ORPHA:2237
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Abnormally large globe, Primum atrial s...	ORPHA:2729
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Arachnoid Cyst	Urinary incontinence, Encephalocele, Abnormality of the endocrine system, Hydrocephalus, Urinary ...	ORPHA:2356
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Meningioma	Enlarged pituitary gland, Urinary incontinence, Reduced circulating prolactin concentration, Decr...	ORPHA:2495
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Urinary incontinence, Uterine leiomyoma	OMIM:616482
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Hirsutism, Encephalocele	OMIM:224400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Jaundice, Hemolytic-uremic syndrome, Hydrocephalus, Abnormal heart morphology, Di...	ORPHA:79282
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Elevated circulating thyroid-stimulating hormone concentration, Hepato...	OMIM:256040
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin...	ORPHA:3260
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Renal...	OMIM:616975
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Delayed puberty, Abnormality of the endocrine sys...	ORPHA:636
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Ventriculomegaly, Hydrocele testis	OMIM:613603
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Primary hypothyroidism, Urethrovaginal fistula, Splenomegaly, Septate vagin...	OMIM:243800
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Communicating hydrocephalus	ORPHA:1064
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Lymp...	ORPHA:449563
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus, Central adrenal insufficiency, Decreased response to growth hormone stimulation te...	OMIM:616007
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Sclerosteosis 1	Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero...	OMIM:269500
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Abnormal heart morphology, Crypt...	ORPHA:401973
Bartsocas-Papas Syndrome 1	Microphthalmia, Ectopic kidney, Hypoplastic labia majora, Patent foramen ovale, Hypoplastic male ...	OMIM:263650
Brittle Cornea Syndrome	Hernia, Abnormality of hair pigmentation, Corneal scarring, Camptodactyly	ORPHA:90354
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Lateral ventricular asymmetry, Mitral valve prolapse, Melanocytic nevus	OMIM:616914
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Hyperbilirubinemia, Reticulocytosis, Cardiomegaly, Hepatic fibro...	ORPHA:14
Williams Syndrome	Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol...	ORPHA:904
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism	OMIM:616300
Laurin-Sandrow Syndrome	Hydrocephalus, Cryptorchidism	ORPHA:2378
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
3Q29 Microduplication Syndrome	Microphthalmia, Ventricular septal defect, Aniridia	ORPHA:251038
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Hyperinsulinemia, Renal hypoplasia/ap...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Hyperinsulinemia, Renal hypoplasia/ap...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Hyperinsulinemia, Renal hypoplasia/ap...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Hyperinsulinemia, Renal hypoplasia/ap...	ORPHA:881
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Low posterior hairline, Abnormal fingernail morphology, Sparse eyebrow, Bif...	ORPHA:1521
Treacher-Collins Syndrome	Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Thyroid hypoplasia, Hypoplasia of the ...	ORPHA:861
Galloway-Mowat Syndrome 1	Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, P...	OMIM:251300
Pettigrew Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Aqueductal stenosis	OMIM:304340
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hypertrophic cardiomyopathy, Hepatitis, Nephrotic syndrome, P...	OMIM:615846
Blau Syndrome	Abnormal salivary gland morphology, Lymphadenopathy, Hyperpigmentation of the skin, Pericarditis,...	ORPHA:90340
Alexander Disease	Aqueductal stenosis, Hyperpigmented nevi, Hydrocephalus, Hypothyroidism, Precocious puberty, Diab...	ORPHA:58
Phocomelia, Schinzel Type	Nail dysplasia, Hypoplasia of penis, Aplasia of the uterus, Tracheoesophageal fistula, Cryptorchi...	ORPHA:2879
Meckel Syndrome 12	Arthrogryposis multiplex congenita, Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Peters Plus Syndrome	Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Spina bifida occulta, Anterior hypop...	ORPHA:709
Crimean-Congo Hemorrhagic Fever	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Hematuria, Pancytopenia, Parotitis, Acute p...	ORPHA:99827
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Microphthalmia	OMIM:300952
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Hydrocephalus, Cardiomyopathy, Sparse scalp hair, Renal artery...	ORPHA:3472
Wolf-Hirschhorn Syndrome	Hypospadias, Hyperconvex fingernails, Highly arched eyebrow, Hydrocephalus, Accessory spleen, Apl...	OMIM:194190
Fraser Syndrome	Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Bicornuate uterus, Omphalocele, Fem...	ORPHA:2052
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux	OMIM:120200
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Ventricular septal defect, Ectopic kidney, Hypoplastic toenails	ORPHA:268249
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Hypoplastic male external genitalia, Spa...	OMIM:605627
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Perineal fistula, Rectovaginal fistula	ORPHA:3016
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Chilton-Okur-Chung Neurodevelopmental Syndrome	Hypospadias, Highly arched eyebrow, Recurrent urinary tract infections, Patent foramen ovale, Ant...	OMIM:619841
Limb Body Wall Complex	Ectopia cordis, Abnormality of the kidney, Anencephaly, Encephalocele, Spina bifida occulta, Hydr...	ORPHA:2369
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Tetrasomy 5P	Hydrocephalus, Depigmentation/hyperpigmentation of skin	ORPHA:3309
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Anophthalmia, Hypoplasia of penis, Hypogonadism, Cry...	ORPHA:2250
Craniofacioskeletal Syndrome	Hypocalcemia, Cryptorchidism, Hypospadias, Tracheal stenosis	OMIM:300712
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Unilateral renal agenesis, Hydrocephalus, Bicornuate uterus, Tetralogy of Fa...	OMIM:154400
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:614230
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Abnor...	ORPHA:79078
Isotretinoin-Like Syndrome	Abnormal cardiac ventricle morphology, Hydrocephalus, Aortic valve stenosis, Bicuspid aortic valv...	ORPHA:2306
Monosomy 9Q22.3	Hydrocephalus, Ovarian fibroma, Cardiac fibroma, Nephroblastoma, Ventriculomegaly	ORPHA:77301
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anem...	ORPHA:289390
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Oculocerebrorenal Syndrome Of Lowe	Abnormal renal tubule morphology, Glomerulopathy, Microphthalmia, Anemia, Hematuria, Azoospermia,...	ORPHA:534
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus, Cryptorchidism, Mitral valve prolapse	OMIM:182212
Popliteal Pterygium Syndrome	Pyramidal skinfold extending from the base to the top of the nails, Bifid scrotum, Hypoplasia of ...	OMIM:119500
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot,...	OMIM:100300
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Hepatic steatosis, Jaundice, Hematuria, Broad eyebrow, Hypospadias, Elevated cir...	OMIM:619475
Charge Syndrome	Microphthalmia, Abnormal aortic valve morphology, Anterior hypopituitarism, Anophthalmia, Labial ...	ORPHA:138
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Tetralogy of Fallot, Abnormal localization of kidney, A...	ORPHA:3186
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus, Hypertrichosis	OMIM:618590
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Hydrocephalus, Polycystic k...	OMIM:268300
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Nephrotic syndrome, Riege...	OMIM:609049
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Wiedemann-Rautenstrauch Syndrome	Pulmonic stenosis, Congenital malformation of the left heart, Aplasia/Hypoplasia of the nails, Sp...	ORPHA:3455
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Cryptorchidism, Microphthalmia	ORPHA:251014
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Thyroid hypoplasia, Small scrotum, Hydrometrocolpos, Hypospadias,...	ORPHA:672
African Trypanosomiasis	Myocarditis, Abnormality of renin-angiotensin system, Urinary incontinence, Jaundice, Lymphadenop...	ORPHA:3385
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Abnormal spermatogenesis, Hyperlipidemia, Hypoplasia of the fallopian t...	ORPHA:3464
Coffin-Siris Syndrome 12	High anterior hairline, Elevated circulating hepatic transaminase concentration, Hypospadias, Sma...	OMIM:619325
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Ovarian neoplasm	ORPHA:87
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Dextrocardia, Anophthalmia, Cryptorchidism, Pulmonic stenosis, Aorti...	OMIM:300166
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac rhabdomyoma, Ovarian fibroma, Cardiac fibroma, Ovarian carcinoma	OMIM:109400
Wiedemann-Rautenstrauch Syndrome	Alopecia of scalp, Broad eyebrow, Hypospadias, Small nail, Long penis, Hydrocephalus, Absent eyel...	OMIM:264090
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary agenesis, Alobar holopr...	OMIM:610829
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus	OMIM:612940
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia, Hor...	OMIM:617088
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Subependymal nodules, Communicating hydrocephalus, Chronic kidney disease, Ven...	ORPHA:25
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, Bifid scrotum, Total anomalous pulmonary venous return, Clitoral hyp...	OMIM:609945
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Synophrys	OMIM:620351
Spondyloepimetaphyseal Dysplasia, Shohat Type	Tracheal stenosis	ORPHA:93352
Geleophysic Dysplasia 1	Laryngotracheal stenosis, Small nail, Tracheal stenosis, Wrist flexion contracture, Camptodactyly...	OMIM:231050
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Renal tubular acidosis, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation, Ven...	OMIM:619575
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Phace Association	Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect, Lingual thyroid	OMIM:606519
Renpenning Syndrome 1	Situs inversus totalis, Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Renal h...	OMIM:309500
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Nephroblastoma, Abnormal cardi...	ORPHA:97297
Shprintzen-Goldberg Syndrome	Abnormal aortic valve morphology, Communicating hydrocephalus, Mitral valve prolapse, Ventriculom...	ORPHA:2462
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Cardiomyopath...	ORPHA:580
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Hypospadias, Ectopic kidney, Hydrocephalus, Noncompaction cardiomyopathy, P...	OMIM:607872
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Hydrocephalus, Cryptorchidism, Pulmonic ...	OMIM:261540
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Hypoplasia of the iris, Acute lymphoblastic leukemi...	OMIM:223370
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Reynolds Syndrome	Jaundice, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphop...	OMIM:613471
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Igg4-Related Thyroid Disease	Hypocalcemia, Tracheal stenosis	ORPHA:64744
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Rodrigues Blindness	Microphthalmia	OMIM:268320
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Rabin-Pappas Syndrome	Highly arched eyebrow, Hydrocephalus	OMIM:620155
Estrogen Resistance Syndrome	Breast hypoplasia, Hypoplasia of the uterus, Enlarged polycystic ovaries	ORPHA:785
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Inguinal freckling, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Patent fo...	ORPHA:363700
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy...	ORPHA:99826
Iniencephaly	Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif...	ORPHA:63259
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Inguinal hernia, Aplasia of the vagina	OMIM:271520
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Jaundice, Hepatosplenomegaly, Communicating hydrocephalus	ORPHA:168577
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Brachytelephalangic Chondrodysplasia Punctata	Tracheal stenosis	ORPHA:79345
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Shawl scrotum, Coarse hair, Widow's peak	ORPHA:1974
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Abnormal heart valve morphology, Leukocytosis, D...	ORPHA:2331
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Hypoplasia ...	OMIM:308300
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Panhypopituitarism, Synophr...	OMIM:610828
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lens colo...	ORPHA:42775
Granulomatosis With Polyangiitis	Weight loss, Tracheal stenosis	OMIM:608710
Achondroplasia	Hydrocephalus	ORPHA:15
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Homocystinuria	ORPHA:395
Larsen Syndrome	Short nail, Cryptorchidism, Tracheal stenosis	OMIM:150250
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Roberts Syndrome	Microphthalmia, Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, ...	ORPHA:3103
Microphthalmia With Limb Anomalies	Hydrocephalus, Abnormal eyebrow morphology, Cryptorchidism, Horseshoe kidney	ORPHA:1106
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Patent foramen ovale, Ventricular septal defect, Cryptorchi...	OMIM:613884
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Dural Sinus Malformation	Hydrocephalus, Myelopathy	ORPHA:97339
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Aqueductal stenosis, Cleft anterior mitral valve leaflet, Hydrocephalu...	OMIM:616462
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Steinert Myotonic Dystrophy	Decreased fertility, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abn...	ORPHA:273
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Enuresis, Occipital meningo...	ORPHA:268810
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypospadias, Inguinal hernia, Aplasia of t...	OMIM:135900
Osteopathia Striata With Cranial Sclerosis	Spina bifida occulta, Hydrocephalus, Atrial septal defect, Ventricular septal defect, Multicystic...	OMIM:300373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Menkes Disease	Hypopigmentation of hair, Inguinal hernia, Woolly hair, Sparse hair, Umbilical hernia, Atypical s...	ORPHA:565
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypoplast...	OMIM:603457
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T ...	OMIM:619381
Lymphedema-Distichiasis Syndrome	Microphthalmia, Ventricular septal defect, Tetralogy of Fallot	OMIM:153400
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Campomelic Dysplasia	Hypospadias, Hydrocephalus, Spina bifida, Short nail, Abnormal heart morphology, Hydronephrosis, ...	OMIM:114290
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Geleophysic Dysplasia 3	Tracheal stenosis	OMIM:617809
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Encephalocele	OMIM:614643
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Neurogenic bladder, Dermal sinus tract, Myelomeningocel...	OMIM:600145
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal renal collecting system morphology, Bilateral microphthalmos, Unilateral renal agenesis,...	ORPHA:468631
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder, Microphthalmia	OMIM:164200
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
8Q24.3 Microdeletion Syndrome	Abnormality of the kidney, Bilateral microphthalmos, Atrioventricular canal defect, Unilateral re...	ORPHA:508488
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:261537
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch...	ORPHA:365
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Lateral ventricle dilatation	ORPHA:300570
Frontorhiny	Hypopituitarism, Microphthalmia	ORPHA:391474
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Pericarditi...	ORPHA:509
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Ventriculomegaly, Encephalocele	OMIM:613150
Schinzel-Giedion Midface Retraction Syndrome	Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones	OMIM:269150
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:268400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, Renal neoplasm, Mitral valve prolapse	ORPHA:536467
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:2152
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Bilateral cryptorchidism, Synophrys, Hypogonadism, Anonychia	ORPHA:3042
Monosomy 9P	Microphthalmia, Hypospadias, Ureteropelvic junction obstruction, Ambiguous genitalia, Cryptorchidism	ORPHA:261112
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Myhre Syndrome	Microphthalmia, Cryptorchidism, Aortic valve stenosis, Pericardial effusion, Atrial septal defect...	OMIM:139210
Incontinentia Pigmenti	Eosinophilia, Microphthalmia, Supernumerary nipple	ORPHA:464
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Recurrent fractures	ORPHA:2785
Medulloblastoma	Hydrocephalus, Elevated circulating hepatic transaminase concentration	ORPHA:616
Alpha-Mannosidosis, Infantile Form	Highly arched eyebrow, Recurrent urinary tract infections, Communicating hydrocephalus, Hepatospl...	ORPHA:309282
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Numerous pigmented freckles, Hydrocephalus	ORPHA:220295
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula,...	OMIM:201750
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Ureterocele, Small scrotum, Cryptorchidism	OMIM:616734
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Neural tube defect, Abnormality of the end...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Neural tube defect, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Neural tube defect, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Neural tube defect, Abnormality of the end...	ORPHA:93924
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Increased hepatic echogenicity	OMIM:608940
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:261552
Holoprosencephaly 1	Hypoglycemia, Microphthalmia, Micropenis, Single ventricle	OMIM:236100
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Microphthalmia, Hyperphosphaturia, Renal Fancon...	OMIM:309000
Achondroplasia	Hydrocephalus	OMIM:100800
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Broad eyebrow, Communicating hydrocephalus, Sparse eyebrow, Ventriculomegaly, Micropenis	ORPHA:457359
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Neu-Laxova Syndrome 1	Microphthalmia, Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Renal ...	OMIM:256520
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Renal cyst, Renal agen...	OMIM:113620
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Sturge-Weber Syndrome	Hydrocephalus, Heterochromia iridis	ORPHA:3205
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Orofaciodigital Syndrome Ii	Hydrocephalus	OMIM:252100
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Hyperphosphaturia, Pericardial effu...	ORPHA:51608
Mowat-Wilson Syndrome	Abnormality of the kidney, Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism, Pulmonic s...	OMIM:235730
Otopalatodigital Syndrome, Type Ii	Hypospadias, Hydrocephalus, Spina bifida, Hydronephrosis, Atrial septal defect, Cryptorchidism, W...	OMIM:304120
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Osteogenesis Imperfecta	Abnormal endocardium morphology, Hypercalciuria, Hydrocephalus, Nephrolithiasis, Mitral valve pro...	ORPHA:666
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	ORPHA:50
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Aplasia of the uterus, Hypopigmentation of the skin, Sparse hair...	OMIM:601803
Ehlers-Danlos Syndrome, Vascular Type	Alopecia of scalp, Inguinal hernia, Cervical insufficiency, Cigarette-paper scars, Cryptorchidism...	OMIM:130050
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal hypertrophy, Ventricular septal defect	OMIM:608670
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	OMIM:304050
Baller-Gerold Syndrome	Abnormality of the kidney, Anomalous splenoportal venous system, Spina bifida occulta, Rectovagin...	OMIM:218600
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia, Ventricular septal defect	OMIM:259770
Traboulsi Syndrome	Microphthalmia, Homocystinuria	OMIM:601552
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Vascular Ehlers-Danlos Syndrome	Hypospadias, Inguinal hernia, Hypokalemia, Uterine rupture, Abnormal eyelash morphology, Abnormal...	ORPHA:286
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology, Abnormal parotid gland morphology, Cryptorch...	OMIM:154500
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy, Hyperpigmentation of the skin	ORPHA:637
Witteveen-Kolk Syndrome	Microphthalmia, Decreased response to growth hormone stimulation test, Hypospadias, Phimosis, Mic...	OMIM:613406
Plague	Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis	ORPHA:707
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	OMIM:274000
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Female hypogonadism, Renal hypoplasia, Sm...	OMIM:607932
Fetal Akinesia Deformation Sequence 1	Hydrocephalus, Cryptorchidism	OMIM:208150
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Sparse eyebrow, Communicating hydrocephalus	OMIM:617011
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Norrie Disease	Microphthalmia, Uterine rupture, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Cryptorc...	ORPHA:649
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Bilateral microphthalmos, Anemia, Congenital hypoparathyroidism	ORPHA:93325
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of the uterus, Elbow fl...	OMIM:276820
Ogden Syndrome	Fine hair, Cryptorchidism, Aplasia/Hypoplasia of the eyebrow	ORPHA:276432
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Highly arched eyebrow, Hypergonadotropic hypogonadism, Thick eyebrow, Polycystic ovaries, Streak ...	ORPHA:572333
Loeys-Dietz Syndrome	Atypical scarring of skin, Camptodactyly of finger, Uterine rupture	ORPHA:60030
Loeys-Dietz Syndrome 2	Hydrocephalus, Patent foramen ovale, Bicuspid pulmonary valve, Mitral valve prolapse, Bicuspid ao...	OMIM:610168
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Loeys-Dietz Syndrome 1	Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Bicuspid aortic valve, Atrial sep...	OMIM:609192
Neuroocular Syndrome	Patent foramen ovale, Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Renal agenesis, Ureteropelvi...	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasi...	OMIM:309800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Single ventricle	OMIM:157170
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hemolytic anemia, Hypoplasia of the iris	OMIM:175780

Histopathology

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

There is no histopathology data for Naa10

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Naa10.

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

Title	Journal	IMPC Allele	PubMed ID
Naa12 compensates for Naa10 in mice in the amino-terminal acetylation pathway.	eLife (August 2021)	Naa10^{tm1a(EUCOMM)Hmgu}	PMC8376253

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MGI Allele	Allele Type	Produced
Naa10^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Naa10^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Naa10^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Naa10 MGI:1915255

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

Histopathology

X-ray

Human diseases caused by Naa10 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data