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Gene: Cdkn1b MGI:104565

Gene Summary

Name:

cyclin dependent kinase inhibitor 1B

Synonyms:

p27Kip1, p27

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
decreased monocyte cell number	Cdkn1b^em2(IMPC)H	HOM	Early adult	3.81×10^-05
abnormal retina morphology	Cdkn1b^em2(IMPC)H	HOM	Early adult	1.15×10^-16
decreased exploration in new environment	Cdkn1b^em2(IMPC)H	HOM	Early adult	4.34×10^-06
decreased mean corpuscular volume	Cdkn1b^em2(IMPC)H	HOM	Early adult	1.04×10^-05
abnormal optic disk morphology	Cdkn1b^em2(IMPC)H	HOM	Early adult	1.64×10^-05
increased spleen weight	Cdkn1b^em2(IMPC)H	HOM	Early adult	5.21×10^-23
abnormal retina vasculature morphology	Cdkn1b^em2(IMPC)H	HOM	Early adult	1.64×10^-05
abnormal startle reflex	Cdkn1b^em2(IMPC)H	HOM	Early adult	3.47×10^-05
decreased circulating triglyceride level	Cdkn1b^em2(IMPC)H	HOM	Early adult	2.87×10^-07
decreased mean corpuscular hemoglobin	Cdkn1b^em2(IMPC)H	HOM	Early adult	1.26×10^-07
decreased bone mineral content	Cdkn1b^em2(IMPC)H	HOM	Early adult	7.57×10^-05
increased fasting circulating glucose level	Cdkn1b^em2(IMPC)H	HOM	Early adult	2.29×10^-10
increased circulating alkaline phosphatase level	Cdkn1b^em2(IMPC)H	HOM	Early adult	3.53×10^-05
decreased bone mineral density	Cdkn1b^em2(IMPC)H	HOM	Early adult	2.57×10^-07

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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.

Phenotype associated images not available

Human diseases caused by Cdkn1b 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 Cdkn1b (3 diseases)
Human diseases predicted to be associated with Cdkn1b (2128 diseases)

The table below shows human diseases associated to Cdkn1b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi...	ORPHA:276152
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755

The table below shows human diseases predicted to be associated to Cdkn1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc...	ORPHA:2969
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea	OMIM:184700
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,...	ORPHA:300373
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to ...	OMIM:275400
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Tall stature	ORPHA:3000
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Rod-cone dystrophy, Conge...	ORPHA:96181
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Ring Chromosome Y Syndrome	Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy...	ORPHA:261529
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Ceroid Lipofuscinosis, Neuronal, 9	Psychomotor deterioration, Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy	OMIM:609055
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:3363
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Craniopharyngioma	Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi...	ORPHA:54595
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le...	ORPHA:90791
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Bardet-Biedl Syndrome 11	Retinopathy, Hypogonadism, Obesity	OMIM:615988
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Congenit...	ORPHA:8
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulin...	ORPHA:3085
Pituicytoma	Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis...	ORPHA:251623
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Soft tissue sarcoma, Adrenocortical carcinoma, Breast carcinoma, Acute ...	OMIM:151623
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Obesity	OMIM:300238
Bardet-Biedl Syndrome 5	External genital hypoplasia, Obesity, Hypogonadism, Macular dystrophy, Micropenis, Rod-cone dystr...	OMIM:615983
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperpigmentati...	ORPHA:90790
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
49,Xxxyy Syndrome	Eunuchoid habitus, Decreased serum testosterone concentration, Mandibular prognathia, External ge...	ORPHA:261534
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen...	ORPHA:90796
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Mccune-Albright Syndrome	Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve...	ORPHA:562
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Sec...	ORPHA:91350
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi...	OMIM:202110
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Spermatogenic Failure 57	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i...	OMIM:619528
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Megalencephaly	Macroorchidism, Truncal obesity, Long penis	ORPHA:2477
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob...	OMIM:300869
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence...	ORPHA:163976
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Aromatase Deficiency	Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism...	ORPHA:91
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Truncal obesity, Polycystic ovaries	ORPHA:284180
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase...	OMIM:615703
Bardet-Biedl Syndrome 10	Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity	OMIM:615987
Optic Atrophy 2	Tremor, Optic atrophy	OMIM:311050
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome	OMIM:201910
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Werner Syndrome	Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neoplasm, Acral lentiginous ...	ORPHA:902
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Atkin-Flaitz Syndrome	Macroorchidism, Obesity	ORPHA:1193
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gland morphology, ...	ORPHA:2298
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Breast carcinoma, Ovarian neoplasm, Hod...	ORPHA:157798
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:601820
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu...	ORPHA:769
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal...	ORPHA:145
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Prader-Willi syndrome (Type 1)	Truncal obesity, Hypogonadism	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity, Hypogonadism	DECIPHER:53
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Bardet-Biedl Syndrome 4	External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal d...	OMIM:615982
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Optic Atrophy--Spastic Paraplegia Syndrome	Abnormal oral glucose tolerance, Optic atrophy	OMIM:311100
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Wolfram-Like Syndrome, Autosomal Dominant	Optic disc pallor, Diabetes mellitus, Impaired glucose tolerance, Optic atrophy, Depression, Type...	OMIM:614296
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter	OMIM:616534
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Clark-Baraitser syndrome	Macroorchidism, Obesity, Tall stature	OMIM:300602
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula...	OMIM:219080
Carney Complex	Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ...	ORPHA:1359
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Micrognath...	OMIM:616222
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Schöpf-Schulz-Passarge Syndrome	Premature loss of primary teeth, Squamous cell carcinoma, Ovarian neoplasm, Basal cell carcinoma,...	ORPHA:50944
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Chorioretinal hypopigmentation, ...	ORPHA:398079
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Ovarian Cancer	Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma	OMIM:167000
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Obesity	ORPHA:85286
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Hyperpigmentation of the skin, Increased circulat...	OMIM:202010
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev...	OMIM:615830
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, H...	ORPHA:791
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Maffucci Syndrome	Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o...	ORPHA:163634
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Decreased serum testosterone concentration, Multiple joint contractures...	ORPHA:2959
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Peutz-Jeghers Syndrome	Neoplasm of the nose, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Esophageal neoplasm...	ORPHA:2869
Proteus Syndrome	Central heterochromia, Neoplasm of the thymus, Neoplasm of the central nervous system, Abnormalit...	ORPHA:744
Polyembryoma	Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Abdominal mass, ...	ORPHA:180229
Congenital Generalized Lipodystrophy	Mandibular prognathia, Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Prec...	ORPHA:528
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Hamartomatous polyposis, High palate, Hypothyroidism, Tr...	OMIM:158350
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Partington Syndrome	Macroorchidism	ORPHA:94083
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone...	OMIM:616030
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Obesity	ORPHA:3077
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l...	ORPHA:163971
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis	ORPHA:85274
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Hypopigmented skin patche...	ORPHA:3453
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Bardet-Biedl Syndrome 16	External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:256450
Hepatic Adenomas, Familial	Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:95513
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size	OMIM:614880
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Cachexia, Ovarian neoplasm, Neoplasm...	ORPHA:83469
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ...	ORPHA:189427
Fanconi Anemia, Complementation Group S	Macrodontia, Dental malocclusion, Breast carcinoma, Ovarian neoplasm, Narrow palate, Ovarian carc...	OMIM:617883
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Cryptorchidism, Obesity	OMIM:309585
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Pulmonary fibrosis, Hypop...	OMIM:618913
Acquired Hypertrichosis Lanuginosa	Weight loss, Ovarian neoplasm, Macroglossia, Neoplasm, Neoplasm of the breast, Neoplasm of the re...	ORPHA:2221
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Abnormality of neuronal migration, Thrombocytopenia	ORPHA:1980
Bazex Syndrome	Lip hyperpigmentation, Neoplasm, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal...	ORPHA:232
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed...	OMIM:612702
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Pulmonary cyst, Large for gestational age, Micrognathia, Overgrowth, Umbilical h...	OMIM:618272
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Hypoplastic spleen, Abnormality of neuronal migration, Microlissencephaly	ORPHA:89844
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
49,Xyyyy Syndrome	Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Micrognathia, Inc...	ORPHA:99330
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula...	OMIM:614897
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro...	OMIM:301033
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Abnormality of the endocrine system...	ORPHA:633
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Recurrent fract...	OMIM:611490
Ataxia-Telangiectasia	Lymphopenia, Failure to thrive, Diabetes mellitus, Hypopigmentation of hair, Polycystic ovaries, ...	ORPHA:100
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary amenorrhea, Polycy...	OMIM:268020
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Lujan-Fryns Syndrome	Macroorchidism, Disproportionate tall stature	ORPHA:776
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero...	OMIM:232700
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Breast carcinoma, Ovarian neoplasm	OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Breast carcinoma, Ovarian neoplasm	OMIM:604370
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Breast-Ovarian Cancer, Familial, Susceptibility To, 3	Ovarian carcinoma, Breast carcinoma	OMIM:613399
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Central Precocious Puberty In Male	Astrocytoma, Abnormality of the testis size, Craniopharyngioma, Pituitary microadenoma, Overgrowt...	ORPHA:649929
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Large for gestational age	ORPHA:356996
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
Bardet-Biedl Syndrome 6	Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Pigmentary retinopathy, Rod...	OMIM:605231
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Ceroid Lipofuscinosis, Neuronal, 1	Psychomotor deterioration, Flexion contracture, Optic atrophy, Vacuolated lymphocytes, Depression...	OMIM:256730
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Primary ameno...	OMIM:615300
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I...	OMIM:300400
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:300067
Ovarian Dysgenesis 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Frasier Syndrome	Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca...	OMIM:136680
Familial Multinodular Goiter	Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular...	ORPHA:276399
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dy...	ORPHA:363741
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, Ben...	ORPHA:440437
Complete Androgen Insensitivity Syndrome	Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated...	ORPHA:99429
Spermatogenic Failure 25	Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia	OMIM:617960
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy	OMIM:165300
Subependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N...	ORPHA:251639
Ependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N...	ORPHA:251636
Isochromosomy Yq	Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism, Obesity	OMIM:300055
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypogonadotropic hypogonadism, Melanocytic nevus, Central adrenal insufficiency, Small pituitary ...	OMIM:612079
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma	OMIM:619101
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Aarskog-Scott Syndrome	Inguinal hernia, Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral crypt...	OMIM:305400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Optic a...	ORPHA:1173
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul...	OMIM:614962
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Anterior hypopituitarism	ORPHA:480
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity	ORPHA:3055
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality...	ORPHA:201
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:251274
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Ceroid Lipofuscinosis, Neuronal, 11	Mental deterioration, Optic atrophy, Retinal dystrophy	OMIM:614706
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Chorioret...	ORPHA:398069
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo...	OMIM:615990
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Neoplasm ...	ORPHA:543
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Osteopetrosis, Anemia	OMIM:615085
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Cortisone Reductase Deficiency 1	Precocious puberty, Obesity, Infertility, Oligomenorrhea	OMIM:604931
Fragile X Syndrome	Macroorchidism	ORPHA:908
Bardet-Biedl Syndrome 2	Diabetes mellitus, External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retina...	OMIM:615981
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, True hermaphroditism, Nephrobla...	OMIM:194080
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypogonadism	ORPHA:1466
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Ovarian Dysgenesis 4	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno...	OMIM:616185
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation t...	OMIM:182230
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morpholo...	ORPHA:314478
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Elevated carcinoma antigen 125 level, Ele...	ORPHA:370348
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612964
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Dental crowding,...	ORPHA:2457
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
Bardet-Biedl Syndrome	Hypoplasia of penis, Cryptorchidism, Obesity, Pigmentary retinopathy, Hypoplasia of the ovary, Hy...	ORPHA:110
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, A...	ORPHA:1772
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of neuronal migration	ORPHA:2204
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy	OMIM:617119
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe...	OMIM:614840
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Chudley-Mccullough Syndrome	Gray matter heterotopia, Hydrocephalus, Polymicrogyria	OMIM:604213
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty...	ORPHA:96184
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Ceroid Lipofuscinosis, Neuronal, 3	Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Dementia,...	OMIM:204200
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Obesity, High palate, Sho...	ORPHA:254531
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Cowden Syndrome 6	Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Angioid strea...	OMIM:615109
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum, T...	ORPHA:2745
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago...	ORPHA:983
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Cowden Syndrome 5	Hyperthyroidism, Goiter, Thyroiditis, Breast carcinoma, Angioid streaks of the fundus, Hamartomat...	OMIM:615108
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c...	OMIM:617241
Immunodeficiency 84	Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Preeclampsia	Increased body mass index, Small for gestational age, Polycystic ovaries, Abnormality of the hepa...	ORPHA:275555
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration	OMIM:618709
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea	OMIM:616946
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Cholesta...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Obesity, Cholesta...	ORPHA:71526
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:71529
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heteroto...	OMIM:604317
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Type II diabetes mellitus	ORPHA:2579
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Ane...	OMIM:610539
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,...	ORPHA:508
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr...	ORPHA:90674
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatic steatosis, Pancrea...	ORPHA:79084
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri...	OMIM:618160
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Dysgyria, Type II lissencephaly	ORPHA:352682
Amed Syndrome, Digenic	Acute myeloid leukemia, Hyperpigmentation of the skin, Adrenal hypoplasia, Myelodysplasia, Thromb...	OMIM:619151
Congenital Muscular Dystrophy With Intellectual Disability	Cryptorchidism, Micropenis, Pigmentary retinopathy, Facial palsy	ORPHA:370968
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Bardet-Biedl Syndrome 7	Rod-cone dystrophy, Hypogonadism, Obesity	OMIM:615984
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve...	ORPHA:210110
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Large for gestational age	ORPHA:2432
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Optic atrophy, Focal dystonia, Depression, Irritability, Cognitive impairment, Limb dysto...	ORPHA:216873
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Laurence-Moon Syndrome	Small scrotum, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Micropenis	OMIM:245800
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
Lynch Syndrome	Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ...	ORPHA:144
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Irritability, Dystonia,...	OMIM:612126
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Hepatic steatosis, Polycystic ovaries	OMIM:608709
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas...	OMIM:611548
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Abnormality of the liver, Rod-cone dystrophy, Hypergonadotropic hypogonadism	OMIM:614307
Narcolepsy Type 1	Obesity	ORPHA:2073
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati...	ORPHA:465508
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Summitt Syndrome	Obesity	OMIM:272350
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Autosomal Recessive Spastic Paraplegia Type 26	Abnormality of the urinary system, Decreased serum testosterone concentration, Premature ovarian ...	ORPHA:101006
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Opt...	ORPHA:3157
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Sandhoff Disease	Splenomegaly, Cherry red spot of the macula, Failure to thrive, Hepatomegaly	ORPHA:796
Caspase 8 Deficiency	Failure to thrive, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:607271
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypokalemia, Adrenocorti...	ORPHA:231632
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Mandibular prognathia, Elevated circulating luteinizing hormone level, Hypopla...	ORPHA:3044
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re...	OMIM:608971
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr...	ORPHA:91354
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat...	ORPHA:453533
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito...	ORPHA:97360
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis	OMIM:614480
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98754
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea...	OMIM:300510
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Nephrolithiasis, Desmoid t...	ORPHA:137605
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Premature Ovarian Failure 2A	Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula...	OMIM:300511
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro...	ORPHA:137608
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Aganglionic megaco...	OMIM:209900
Muir-Torre Syndrome	Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben...	OMIM:158320
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth...	OMIM:618157
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ...	OMIM:618963
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy...	OMIM:613762
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab...	OMIM:610628
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Micrognathia, Minimal change glomerulonephritis, Cleft ...	OMIM:616730
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Ovarian Fibromata	Ovarian fibroma	OMIM:166970
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Hepatomegaly	OMIM:269840
Wolfram-Like Syndrome	Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Depression, Glucose intolerance, ...	ORPHA:411590
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Mental deterioration, Optic atrophy	OMIM:610951
Aceruloplasminemia	Torticollis, Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentratio...	OMIM:604290
Ovarian Fibroma	Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif...	ORPHA:314473
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98793
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Bardet-Biedl Syndrome 8	Rod-cone dystrophy, Hypogonadism, Obesity, Hypospadias	OMIM:615985
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ...	OMIM:619868
Combined Saposin Deficiency	Splenomegaly, Optic atrophy, Hepatomegaly	OMIM:611721
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177904
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation, Multiple lipomas, Renal cell carcinoma, Parathyroid adenoma,...	ORPHA:122
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Hypogeusia, Decreased serum zinc, Hypogonadism, Decreased serum testo...	OMIM:201100
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J...	OMIM:603552
Obesity And Hypopigmentation	Hepatic steatosis, Overgrowth, Obesity	OMIM:620195
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177901
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Cognitive impairment	ORPHA:2246
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Hypertriglyceridemia, Abnormality of the dent...	OMIM:182290
Autosomal Recessive Spastic Paraplegia Type 45	Flexion contracture of toe, Optic atrophy, Ankle flexion contracture, Knee flexion contracture	ORPHA:320396
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Pituitary Gigantism	Tall stature, Premature pubarche, Elevated circulating growth hormone concentration, Increased ci...	ORPHA:99725
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T...	ORPHA:2041
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hypogonadism, He...	OMIM:613313
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Hepatomegaly	OMIM:609016
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Weight loss, Hepatomegaly	ORPHA:79238
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestatio...	ORPHA:79237
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy, External genital hypoplasia, Obesity	OMIM:600151
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Cardiomegaly	ORPHA:324410
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:613496
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Micropenis, Retinal dystrophy, Pituitary hypothyroidism, Anterior pituitary hypoplasia	OMIM:619983
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Primary hyperparathyroidism, Lymphadenopathy, Neoplasm of the lu...	ORPHA:1332
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Cog2-Cdg	Small pituitary gland, Decreased liver function	ORPHA:435934
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidism, Jaundice, Optic ...	OMIM:214110
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Small pituitary gland	OMIM:617395
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoplasia of penis, Failure to thrive, Septo-optic dysplasia, Adren...	ORPHA:95496
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Cryptorchidism, Pigmentary retinopathy, Left ventricular hypertrophy, Micropenis	OMIM:613156
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In...	ORPHA:289548
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Mehmo Syndrome	Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Mic...	ORPHA:85282
Smith-Magenis Syndrome	Mandibular prognathia, Hypertriglyceridemia, Failure to thrive in infancy, Tented upper lip vermi...	ORPHA:819
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Premature loss of permanent teeth, Hypertriglyceridemia, Hypospadias, External genital hypoplasia...	OMIM:610644
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Atypical Werner Syndrome	Micrognathia, Fasting hyperinsulinemia, Neoplasm of the breast, Abnormality of the pulmonary arte...	ORPHA:79474
Asbestos Intoxication	Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ...	ORPHA:2302
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Ascites, Hydrocephalus	OMIM:602361
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Cafe-au-lait spot, Failure to thrive, Hypospadias	OMIM:618874
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Disproportionate tall stature, Tall stature	OMIM:309520
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Micropenis, Retinal dystrophy, Childhood-onset truncal obesity	OMIM:610156
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Rod-cone dystrophy, Obesity	OMIM:615633
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Dystonia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathe...	ORPHA:79312
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ...	OMIM:133780
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine ...	OMIM:620366
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,...	OMIM:620211
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren...	ORPHA:168558
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Müllerian Aplasia And Hyperandrogenism	Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm...	ORPHA:247768
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Simpson-Golabi-Behmel Syndrome, Type 2	Recurrent respiratory infections, Inguinal hernia, Recurrent upper respiratory tract infections, ...	OMIM:300209
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre...	ORPHA:3464
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul...	ORPHA:100024
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Optic atrophy, Osteoporosis	ORPHA:2787
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Neoplasm, Eleva...	OMIM:300068
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Delayed eruption of teeth, Increased T3/T4 ratio, Increas...	OMIM:614450
Ovarian Dysgenesis 8	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti...	OMIM:618187
Craniodiaphyseal Dysplasia, Autosomal Dominant	Papilledema, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Optic at...	OMIM:122860
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R...	OMIM:602271
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye...	OMIM:300148
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Optic atrophy, Facial palsy, Craniosynostosis	ORPHA:178377
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Ascites, Increased body weight	ORPHA:890
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, ...	OMIM:615996
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Unilateral cryptorchidism, Optic nerve hypoplasia, Large for gestational age, Overgrowth, Aplasia...	ORPHA:137634
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis	OMIM:301900
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Obesity, Gonadoblastoma, Abnormality of the uterus, Ne...	OMIM:194072
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minor...	ORPHA:2510
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Optic atrophy, Cognitive impairment, Dystonia	ORPHA:1171
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Ja...	ORPHA:858
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Temple Syndrome	Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati...	ORPHA:254516
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A...	OMIM:602390
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Decreased fertility, Abnormal testis morphology, Hypogonadism, Obesity	ORPHA:2233
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Abnormal autonomic ...	OMIM:598500
Galactosemia Iii	Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly	OMIM:230350
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Generalized dystonia, Optic di...	OMIM:619389
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Choreoathetosis, Emotional...	ORPHA:98890
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decr...	OMIM:619824
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Dystonia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Neutrop...	ORPHA:289916
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphol...	ORPHA:251004
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Ungual fibroma, Patchy atrophy of the retinal pigment epithe...	ORPHA:1433
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Irritability, Dystonia, Diffuse hepatic stea...	OMIM:264470
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He...	OMIM:248370
Band Heterotopia	Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Immunodeficiency 54	Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Adr...	OMIM:609981
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Chronic ki...	ORPHA:85445
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete...	OMIM:241080
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula...	OMIM:614837
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm	OMIM:614350
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden...	OMIM:240500
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Distal Deletion 10P	Cryptorchidism, Hypoplasia of penis, Polycystic ovaries	ORPHA:1580
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Optic atrophy,...	OMIM:222300
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Optic atrophy, Abnormal ...	ORPHA:3152
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Hepat...	ORPHA:400
Cherubism	Bone cyst, Optic atrophy	ORPHA:184
Premature Ovarian Failure 14	Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f...	OMIM:618014
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Micropenis, Decreased te...	ORPHA:335
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
Senior-Loken Syndrome 9	Retinal dystrophy, Obesity, Cholestasis, Macular degeneration, Hypogonadism, Hepatic fibrosis, Ro...	OMIM:616629
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosphate regulating...	ORPHA:417
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Premature ovarian insufficienc...	OMIM:240300
48,Xxyy Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Inguinal hernia...	ORPHA:10
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Abnormality of the kidney, Cleft upper li...	ORPHA:168569
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant...	ORPHA:79083
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Obesity,...	ORPHA:2234
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Hyperglycemia, Retinal thinning	OMIM:618970
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Optic atrophy, Recurrent fractures	ORPHA:2773
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H...	OMIM:607115
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Secondary amenorrhea, Goiter	OMIM:617175
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre...	OMIM:146110
Spastic Paraplegia 26, Autosomal Recessive	Urinary urgency, Decreased serum testosterone concentration	OMIM:609195
Striatonigral Degeneration, Infantile	Choreoathetosis, Optic atrophy, Dystonia	OMIM:271930
Leber Hereditary Optic Neuropathy	Retinal vascular tortuosity, Optic atrophy, Postural tremor, Retinal telangiectasia	ORPHA:104
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Pituitary Hormone Deficiency, Combined, 3	Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati...	OMIM:221750
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive	ORPHA:172
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Central hy...	OMIM:616113
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Facial palsy, Craniosy...	OMIM:259700
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Dementia, Optic atrophy	OMIM:182830
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurologic deteriorat...	OMIM:300438
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Micrognathia, Minimal change glomerulonephritis, Cleft ...	OMIM:618348
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Fg Syndrome Type 1	Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Small pituitary gland, Slender build	ORPHA:93932
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Hy...	ORPHA:177910
Lynch Syndrome 4	Endometrial carcinoma, Ovarian neoplasm	OMIM:614337
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani...	OMIM:616959
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum insulin-like grow...	ORPHA:293978
Meckel Syndrome, Type 8	Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic k...	OMIM:613885
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	OMIM:173100
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Alstrom Syndrome	Cone/cone-rod dystrophy, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotr...	OMIM:203800
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Trisomy 20P	Macroorchidism, Cryptorchidism, Hypospadias, Abnormal autonomic nervous system physiology	ORPHA:261318
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D...	OMIM:300310
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol...	OMIM:604367
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Spinocerebellar Ataxia 7	Tremor, Optic atrophy, Macular degeneration, Pigmentary retinopathy, Mental deterioration	OMIM:164500
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
Oligodontia	Orofacial cleft, Agenesis of mandibular premolar, Oligodontia, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Luscan-Lumish Syndrome	Irregular menstruation, Overgrowth, Obesity, Polycystic ovaries	OMIM:616831
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:79085
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Decr...	OMIM:216550
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pigmentary retinopathy, Hypochromic...	OMIM:600462
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova...	ORPHA:2348
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Breast carcinoma, Weight loss, Hepatosplenomegaly, ...	ORPHA:1333
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Small pituitary gland	OMIM:614195
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Retinal degeneration, Intenti...	ORPHA:157850
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Hypog...	OMIM:615994
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi...	OMIM:308240
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Merrf	Optic atrophy, Cognitive impairment	ORPHA:551
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis...	ORPHA:27
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteo...	ORPHA:53
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
46,Xx Sex Reversal 5	Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum...	OMIM:618901
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Retinal dystrophy, Premature ov...	ORPHA:3156
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration	ORPHA:945
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati...	ORPHA:264580
Lhermitte-Duclos Disease	Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi...	ORPHA:65285
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal...	OMIM:618078
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Large for gestation...	ORPHA:116
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Hyperhidrosis, Atrophic scars, Bas...	ORPHA:79406
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ileal adenocarcinoma, Ovarian neoplasm, Adrenocorticotropic hormone excess, Intesti...	ORPHA:100079
Laurence-Moon Syndrome	Hypoplasia of penis, Cryptorchidism, Congenital hepatic fibrosis, Obesity, Type II diabetes melli...	ORPHA:2377
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad...	OMIM:615849
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph...	ORPHA:534
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty	ORPHA:141333
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity	ORPHA:2183
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Ovari...	ORPHA:87
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:435651
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy	ORPHA:545
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomeg...	OMIM:130650
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Hydrocele testis, Multiple lipomas, Overgrowth, Nephroblastoma, Ovarian serous cysta...	ORPHA:276280
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Optic atrophy, Depression, Dementia, Cognitive impairment, Sensory axonal neuropathy	ORPHA:329314
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, Decreased circulati...	ORPHA:397596
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Donohue Syndrome	Hypermelanotic macule, Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cys...	OMIM:246200
Intracranial Hypertension, Idiopathic	Papilledema	OMIM:243200
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cryptorchidism, Cafe-au-lait spot, Increased body weight	ORPHA:589905
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hypogonadism, Hepatomegaly	OMIM:608540
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Ty...	OMIM:615191
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal...	OMIM:300578
Mirage Syndrome	Myelodysplasia, Cryptorchidism, Hydrocephalus, Anemia, Leukopenia, Hypoplastic spleen, Lymphopeni...	OMIM:617053
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitat...	OMIM:212140
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,...	ORPHA:77301
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabete...	ORPHA:290
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Ramon Syndrome	Abnormality of retinal pigmentation, Failure to thrive, Diabetes mellitus, Gingival fibromatosis	ORPHA:3019
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Hip contracture, Inguinal hernia, Microretrognathia, Micrognathia, Carious...	OMIM:618363
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Spermatogenic Failure 14	Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen...	OMIM:615842
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Hepatomegaly, Myelodysplasia, Anemia of ...	ORPHA:75564
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand...	OMIM:604484
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Overweight, Gliosis, Micropenis, Decreased...	ORPHA:457240
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Dystonia, ...	ORPHA:26792
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy	ORPHA:3151
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Foot joint contracture, Decreased nerve conduction velocity, Optic atrophy, Irritability, Dystoni...	ORPHA:457205
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Increased body weight, Hepatoce...	ORPHA:79240
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblast...	OMIM:249270
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:435660
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo...	ORPHA:3411
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Nephrocalcinosis, Periodontitis, Hypothyroidism, Tubulointerstitial fibro...	ORPHA:79259
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Congestive heart failure, Cardiomegaly	OMIM:269920
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy, Sensory axon...	OMIM:609541
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Leber Optic Atrophy And Dystonia	Optic atrophy, Athetosis, Dementia, Leber optic atrophy, Dystonia	OMIM:500001
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease...	ORPHA:243
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Mitochondrial Complex I Deficiency, Nuclear Type 15	Irritability, Flexion contracture, Optic atrophy, Dystonia	OMIM:618237
Glutathione Synthetase Deficiency	Hemolytic anemia, Pigmentary retinopathy, Neutropenia	OMIM:266130
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesity, Primary a...	OMIM:619737
Autosomal Recessive Progressive External Ophthalmoplegia	Facial palsy, Elevated circulating creatine kinase concentration, Abnormal retinal morphology, Op...	ORPHA:254886
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity	ORPHA:893
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia	ORPHA:99927
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly	OMIM:614702
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat...	OMIM:274300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Pancreatic steatosis, T...	OMIM:617052
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m...	ORPHA:101030
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,...	OMIM:616188
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Cleft up...	OMIM:109400
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Bardet-Biedl Syndrome 12	Abdominal mass, Hydrometrocolpos, Obesity, Hypogonadism, Rod-cone dystrophy, Vaginal atresia	OMIM:615989
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Microphthalmia, Isolated 4	Absent testis	OMIM:613094
Leukoencephalopathy With Vanishing White Matter 2	Memory impairment, Optic atrophy	OMIM:620312
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Atrophic scars, Basal cell carcino...	ORPHA:79405
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re...	ORPHA:320406
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Doors Syndrome	Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism, Capillary hemangioma, Ambiguous ge...	ORPHA:79500
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Joint laxity, Peripheral axonal neuropathy, Hepatomegaly, Ele...	OMIM:615673
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le...	ORPHA:37748
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Overweight, Renovascular hypertension, Type II diabetes mellitus, Hypercho...	ORPHA:401923
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration	OMIM:520000
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Xq12-Q13.3 Duplication Syndrome	Abnormality of visual evoked potentials, Cryptorchidism, Decreased serum insulin-like growth fact...	ORPHA:314389
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness	OMIM:266500
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Pruritis on hand, Pruriti...	ORPHA:64745
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Dysgerminoma	OMIM:123500
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Left ventricular hypertrophy	OMIM:618632
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Progressive neurologic deterioration, Nodular regene...	ORPHA:247691
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Neoplasm, Menorrhagia	ORPHA:168816
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Pigmentary retinopathy, Cholestatic liver disease, Hypogonadism, Type II di...	ORPHA:79095
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P...	ORPHA:811
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight	OMIM:620065
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund...	ORPHA:268
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Thrombocytopenia	ORPHA:49827
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome...	OMIM:619644
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Cholesteryl Ester Storage Disease	Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi...	OMIM:278000
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos...	OMIM:235200
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease...	ORPHA:730
Mucolipidosis Iv	Progressive neurologic deterioration, Abnormal abdomen morphology, Optic atrophy, Dystonia, Retin...	OMIM:252650
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Juvenile Paget Disease	Abnormality of retinal pigmentation, Recurrent fractures, Cranial hyperostosis, Optic atrophy, Os...	ORPHA:2801
Leukodystrophy, Hypomyelinating, 21	Mental deterioration, Athetosis, Optic atrophy, Dystonia	OMIM:619310
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Abnormality of the liver, Optic atrophy, Primary adrenal ins...	ORPHA:44
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Trem...	OMIM:608799
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Incr...	OMIM:618495
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr...	OMIM:608836
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ...	ORPHA:486
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Abnormalit...	ORPHA:2169
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Leber Congenital Amaurosis 1	Hepatomegaly, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of retinal b...	OMIM:204000
Chung-Jansen Syndrome	Cryptorchidism, Cafe-au-lait spot, Obesity	OMIM:617991
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Diabetes melli...	ORPHA:412
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Solitary Fibrous Tumor	Vaginal neoplasm, Soft tissue neoplasm, Reduced C-peptide level, Genital neoplasm, Weight loss, N...	ORPHA:2126
Neurofibromatosis Type 1	Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Chorioretinal coloboma, Heterochromia ...	ORPHA:636
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormality of retinal p...	ORPHA:2196
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age	ORPHA:293964
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal agenesis, Micrognathia, Cryptorchidism, Obesity, Renal hypoplasia, Thin vermil...	ORPHA:171839
Diaphanospondylodysostosis	Inguinal hernia, Nephrogenic rest, Micrognathia, Nephroblastomatosis, Cleft palate, Horseshoe kid...	OMIM:608022
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra...	OMIM:131100
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Optic atrophy, Depression, Dystonia, Hyperalaninemi...	ORPHA:254881
Dermatomyositis	Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int...	ORPHA:221
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Steinert Myotonic Dystrophy	Brain neoplasm, Tented upper lip vermilion, Decreased response to growth hormone stimulation test...	ORPHA:273
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Retinal Dystrophy And Microvillus Inclusion Disease	Osteopenia, Optic disc pallor	OMIM:619446
Acrodysostosis 2 With Or Without Hormone Resistance	Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Obesity, Congenital hypothyroidism, ...	OMIM:614613
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
48,Xxxy Syndrome	Mandibular prognathia, Recurrent respiratory infections, Hypoplasia of penis, Small scrotum, Ingu...	ORPHA:96263
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Hypermelanotic macule, Bile duct polyp, Biliary tract abnormality, Brea...	OMIM:175200
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Papilledema, Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter	ORPHA:371428
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi...	OMIM:605309
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Hepatosplenomegaly, Optic atrophy, Hepatic fibrosis, Intention tremor	ORPHA:466794
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Crypt...	ORPHA:193
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis...	OMIM:613457
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Fa...	OMIM:259720
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Mogs-Cdg	Absent brainstem auditory responses, Hepatomegaly, Fair hair, External genital hypoplasia, Cardio...	ORPHA:79330
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:42642
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par...	OMIM:610489
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Diabetes mellitus, Abnormality of the kidney, Decreased serum iron, Overwe...	ORPHA:391372
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Classic Mycosis Fungoides	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:2584
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Carpenter Syndrome	External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Obesity, Po...	ORPHA:65759
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Optic disc pallor, Stiff neck, Dystonia, Pancreatitis	OMIM:618230
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Parathyroid Carcinoma	Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h...	ORPHA:143
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia	ORPHA:327
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy	OMIM:256550
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Pseudo...	OMIM:612462
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly	OMIM:618234
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Bardet-Biedl Syndrome 21	Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Overweight, ...	OMIM:617406
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Premature ovarian insufficiency, Female infertility	OMIM:619518
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I...	ORPHA:347
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Cln3 Disease	Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Increased circulating androgen con...	ORPHA:228346
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Hepatomegaly, Proteinuria, Recurrent bronchopulmonary infection...	OMIM:617303
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Insulinoma	Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,...	ORPHA:97279
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Osteopenia, Optic atrophy	OMIM:617810
Beta-Propeller Protein-Associated Neurodegeneration	Tremor, Optic atrophy, Dementia, Abnormal autonomic nervous system physiology, Dystonia	ORPHA:329284
3-Methylglutaconic Aciduria, Type I	Short attention span, Optic atrophy, Athetosis, Dementia, Cognitive impairment, Dystonia	OMIM:250950
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, Basal cell carcinoma,...	OMIM:610651
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Primary adrenal insufficiency, Pigme...	OMIM:530000
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Rod-co...	OMIM:615986
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Giant Axonal Neuropathy	Abnormal pituitary gland morphology, Facial palsy	ORPHA:643
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Peripheral axonal neuropathy, Optic atrophy, Depression	OMIM:619425
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal pancreas morp...	ORPHA:48818
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Peripheral axonal neuropathy, Optic atrophy, Intention tremor	OMIM:620221
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Insulin-resistant diabetes mellitus, Optic atrophy,...	ORPHA:401768
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Oslam Syndrome	Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Mitochondrial Complex I Deficiency, Nuclear Type 19	Athetosis, Irritability, Optic atrophy, Hypoglycemia	OMIM:618241
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,...	OMIM:600955
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25...	ORPHA:98848
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri...	OMIM:616881
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Irritabili...	ORPHA:644
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchi...	ORPHA:264200
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria	ORPHA:300573
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho...	ORPHA:249
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure, Retinal dege...	OMIM:615630
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone marrow hypocel...	ORPHA:391
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Infantile Systemic Hyalinosis	Polycystic ovaries, Abnormality of the adrenal glands, Failure to thrive, Aplasia/Hypoplasia of t...	ORPHA:2176
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insu...	ORPHA:75233
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Diabetes mellitus, Yellow/white lesions of the retina, Retinal flecks	ORPHA:100996
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Progressive neurologic deterioration, Optic atrophy, Hyperammonemia, Irritability, ...	OMIM:618253
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ...	ORPHA:845
Full Schwannomatosis	Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa...	ORPHA:93921
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Failure to thrive, Focal T2 hyperintense thalamic lesion	OMIM:619046
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Depression, Opisthotonus, Anemia	OMIM:184850
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to...	OMIM:620210
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Pancytopenia, Confusion, Hepatosplenomegaly, Depression	ORPHA:309288
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infection, Bronchiectasis, Weight loss,...	ORPHA:79128
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Hyperparathyroidism-Jaw Tumor Syndrome	Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h...	ORPHA:99880
Acromelic Frontonasal Dysplasia	Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system li...	ORPHA:1827
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Tall stature, Diabetes mellitus, Acute pancreatitis, Decreased serum leptin, Decrea...	OMIM:608594
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Hematological neoplasm, Porta...	ORPHA:824
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Tall stature, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, ...	OMIM:269700
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Retinal dystrophy, Cryptorc...	ORPHA:251066
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly...	ORPHA:247585
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Hyperthyroidism, Primary amenorrhea, Pigmentary retinopathy, Lipoma, Increased...	ORPHA:502423
Cog4-Cdg	Hypercholesterolemia, Recurrent upper respiratory tract infections, Failure to thrive in infancy,...	ORPHA:263501
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Microlissencephaly, Lissenceph...	OMIM:616212
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left v...	OMIM:201475
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hyperlipidemia, Oral ulcer, Nephrol...	OMIM:232220
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,...	OMIM:619476
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis	OMIM:611812
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Recurrent respiratory infections, Multiple joint contractures, Overweight, Cryptorchidism, High p...	ORPHA:486815
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Primary amenorrhea, Multiple lipomas, Pigmentary retinopathy, Increased circulat...	OMIM:617675
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the optic nerve, Hypoplasia of the thymus, Abnormal retinal morphology	ORPHA:40366
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec...	ORPHA:813
Endocrine-Cerebroosteodysplasia	Natal tooth, Small scrotum, Hypospadias, Bilateral cleft lip, Adrenal hypoplasia, Micrognathia, M...	OMIM:612651
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia	ORPHA:42
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Diabetes mellitus	ORPHA:96
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma	OMIM:617100
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten...	OMIM:613464
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Polysplenia, Rod-cone dystrophy, Abnormal sperm m...	ORPHA:244
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Congenital Myopathy 9A	Cryptorchidism, Obesity	OMIM:618822
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I...	OMIM:615962
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Alg9-Cdg	Omphalocele, Microretrognathia, Thin upper lip vermilion, Hepatomegaly, Lipodystrophy, Hypoplasia...	ORPHA:79328
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland agenesis, Va...	OMIM:273395
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Microcephaly, Amish Type	Hypoplasia of the fovea, Hepatomegaly, Flexion contracture, Optic atrophy, Irritability	OMIM:607196
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Opisthotonus, Increased susceptibility to fractures, Pig...	ORPHA:216866
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circ...	ORPHA:276575
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar...	ORPHA:523
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Diamond-Blackfan Anemia 6	Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume	OMIM:612561
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity	ORPHA:464288
Microphthalmia, Syndromic 3	Optic nerve aplasia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, O...	OMIM:206900
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Optic atrophy, Hypoplastic labia majora, Undetectable visual evoke...	OMIM:614225
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Tented philtrum, Absence of ...	ORPHA:495875
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	ORPHA:67045
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple...	ORPHA:79644
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Small for gestational age, Brushfield...	OMIM:614866
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Chronic noninfectious lymphadenopathy, Neoplasm of the outer e...	ORPHA:79140
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Bas...	ORPHA:363618
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Cognitive impairment, Dystonia, Che...	ORPHA:309246
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries	ORPHA:1770
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young,...	ORPHA:324575
15Q24 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Congenital diaphragmatic hern...	ORPHA:94065
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Schaaf-Yang Syndrome	Mandibular prognathia, Failure to thrive in infancy, Abnormality of the philtrum, Cryptorchidism,...	OMIM:615547
Cach Syndrome	Progressive neurologic deterioration, Flexion contracture, Optic atrophy, Nonketotic hyperglycine...	ORPHA:135
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Nephronophthisis 15	Obesity, Retinal degeneration	OMIM:614845
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial palsy, Head titubation, Optic atrophy, Choreoat...	OMIM:608804
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Cholestasis	OMIM:105200
Optic Atrophy 11	Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Athetosis, Facial diplegia, Attention defici...	OMIM:617302
Familial Adenomatous Polyposis 1	Astrocytoma, Carious teeth, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma...	OMIM:175100
Joubert Syndrome 37	Hepatomegaly, Cryptorchidism, Obesity, Micropenis, Decreased testicular size	OMIM:619185
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Hypospadias, Adrenal hypoplasia...	OMIM:214100
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Abnormal chorioretinal morphology, Chorioretin...	ORPHA:5
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei...	ORPHA:94086
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ...	OMIM:263200
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom...	ORPHA:480536
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphat...	OMIM:616005
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Splenomegaly, Micron...	OMIM:606003
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Large for gestational age, Micrognathia, ...	ORPHA:314588
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Cryptorchidism, Rod-cone dystrophy, Abnormality of pattern v...	ORPHA:166035
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Failure to...	OMIM:613489
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Astrocytoma, Generalized hyperpigmentation, Insulin-resistant d...	ORPHA:79086
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Small for gestational age, Elevated circulating luteinizing hormone level, Hypo...	OMIM:618419
Ataxia-Telangiectasia	Failure to thrive, Diabetes mellitus, Female hypogonadism, Lymphoma, Hodgkin lymphoma, Acute lymp...	OMIM:208900
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cryptorc...	ORPHA:3409
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Pseudohypoparathyroidism, Type Ib	Obesity, Pseudohypoparathyroidism	OMIM:603233
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:613151
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Dysmenorrhe...	ORPHA:280365
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Depression, Pigmentary retinopathy, Dementia, Progressive language deteriorati...	ORPHA:79264
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypogonadism, El...	OMIM:103580
Childhood-Onset Spasticity With Hyperglycinemia	Short attention span, Optic atrophy, Nonketotic hyperglycinemia, Irritability, Cognitive impairme...	ORPHA:401866
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	OMIM:176270
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica...	OMIM:204690
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Cafe-au-lait spot, Macroorchidism, Hemangioma, Failure to thrive	OMIM:619950
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Low Phospholipid-Associated Cholelithiasis	Diabetes mellitus, Hypercholesterolemia, Overweight, Obesity, Cholelithiasis, Pancreatitis	ORPHA:69663
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Hydranencephaly	Optic nerve hypoplasia, Thalamic edema, Chorioretinal atrophy, Dysgenesis of the thalamus, Atroph...	ORPHA:2177
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hepatomegaly, Hypermelanotic macule, Cryptorchidism, Optic a...	ORPHA:90321
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Reduced natural killer cell activity, Splenomegaly, Anemia, Redu...	OMIM:616050
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi...	ORPHA:276152
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Recurrent fractures, Optic atrophy, R...	OMIM:268315
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Pachygyria	ORPHA:370980
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism, Obesity	OMIM:612463
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Sotos Syndrome	Ureteral duplication, Astrocytoma, No permanent dentition, Flexion contracture, Neoplasm, Vesicou...	ORPHA:821
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology	OMIM:236680
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Chromosome Xq21 Deletion Syndrome	Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration	OMIM:303110
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu...	ORPHA:247598
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration	ORPHA:65
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis,...	ORPHA:39041
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Pigmentary retinopathy, Left ventr...	ORPHA:746
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Hypospadias, Small pituitary gland, Micropenis	OMIM:619479
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Osteoporosis, Optic atro...	OMIM:619487
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Incr...	ORPHA:3261
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor...	OMIM:127550
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L...	ORPHA:3162
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Bardet-Biedl Syndrome 20	Papilledema, Bilateral cryptorchidism, Obesity, Retinal vascular tortuosity, Male hypogonadism, M...	OMIM:619471
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Abdominal obesity, Hypopl...	OMIM:619321
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Increased T cell count, Increased B cell ...	ORPHA:98813
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Basal cell car...	ORPHA:79409
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline...	ORPHA:276580
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:614842
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperi...	ORPHA:276608
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Cockayne Syndrome A	Hepatomegaly, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction ve...	OMIM:216400
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Tremor, Optic atrophy, Athetosis, Dystonia, Rod-cone dystrophy, Thrombocytopenia	OMIM:617710
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Optic atrophy, Craniosynostosis	ORPHA:1528
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Macular atrophy, Splenomegaly, Micr...	OMIM:619418
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Gardner Syndrome	Astrocytoma, Brain neoplasm, Papillary thyroid carcinoma, Prostate cancer, Hepatoblastoma, Fibros...	ORPHA:79665
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	OMIM:616100
Krabbe Disease	Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atrophy, Motor deteriorat...	OMIM:245200
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism,...	OMIM:612541
Alg6-Cdg	Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increased circulating and...	ORPHA:79320
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Xanthelasma, Focal segmental glomerul...	OMIM:232200
Pheochromocytoma/Paraganglioma Syndrome 7	Pheochromocytoma, Paraganglioma	OMIM:618475
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis...	OMIM:615873
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Schindler Disease, Type I	Osteopenia, Optic atrophy	OMIM:609241
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Elevated circulating creatine kinas...	OMIM:614298
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Osteopenia, Optic atrophy, Osteoporosis	ORPHA:529665
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Hyperparathyroidism, Transient Neonatal	Ovarian cyst, Hyperparathyroidism, Enlarged kidney, Splenic cyst	OMIM:618188
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Tay-Sachs Disease	Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia	OMIM:272800
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Osteopetr...	OMIM:612301
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Failure to thrive, Hypospadias, C...	ORPHA:2556
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin...	OMIM:612714
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Diabetes mellitus, Morning glory anomaly, Optic atrophy, Dementia, Cognitive i...	ORPHA:98673
Short Syndrome	Ovarian cyst, Insulin-resistant diabetes mellitus, Small for gestational age	OMIM:269880
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio...	OMIM:619004
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly...	OMIM:614576
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Thin upper lip vermilion, Congenital diaphragmatic hernia, Cryp...	ORPHA:412035
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Cardiomegaly, Progressive ps...	OMIM:268800
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Pulmonary lymphangiectas...	ORPHA:1655
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Megalocornea-Intellectual Disability Syndrome	Micrognathia, High palate, Short philtrum, Everted lower lip vermilion, Hypercholesterolemia, Ope...	ORPHA:2479
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ...	ORPHA:363444
Behr Syndrome	Tremor, Achilles tendon contracture, Optic atrophy, Hypoplastic optic chiasm, Adductor longus con...	OMIM:210000
Ruvalcaba Syndrome	Abnormality of visual evoked potentials, Cryptorchidism, Hypopigmented skin patches, Delayed puberty	ORPHA:3121
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho...	OMIM:607765
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Meacham Syndrome	Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism, Partial anomalous...	OMIM:608978
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Optic atrophy, Progressive psychomotor deterioration...	OMIM:230600
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentrat...	OMIM:610377
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Immunodeficiency 9	Failure to thrive, Hypoplasia of the thymus	OMIM:612782
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac...	ORPHA:897
Noonan Syndrome 8	Large for gestational age, Cryptorchidism, Left ventricular hypertrophy, Failure to thrive, Hyper...	OMIM:615355
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Type I diabetes...	OMIM:560000
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Retinal telangiectasia, Tremor, Thrombocytopenia, Optic atrophy, Osteoporosis, Increa...	OMIM:612199
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Decreased circulating free fatty...	ORPHA:276556
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Optic nerve...	OMIM:610829
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Lymphoproliferative d...	OMIM:614700
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased r...	ORPHA:699
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Mpdu1-Cdg	Undetectable visual evoked potentials, Decreased serum insulin-like growth factor 1, Optic atroph...	ORPHA:79323
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Micrognathia, Cardiomegaly, S...	OMIM:252500
Enamel-Renal Syndrome	Increased circulating osteocalcin level, Delayed eruption of teeth, Abnormality of dental color, ...	ORPHA:1031
Optic Atrophy 5	Optic disc pallor, Optic atrophy	OMIM:610708
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration	OMIM:608840
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenomegaly, Multi...	OMIM:230800
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hypospadias, Anterior pituitary hypoplasia, Small for gestational age, Cryptor...	ORPHA:464306
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Irritability, Joint c...	OMIM:617864
Neuhauser Syndrome	Micrognathia, High palate, Primary hypothyroidism, Long philtrum, Hypercholesterolemia, Bifid uvula	OMIM:249310
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Trisomy 18	Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of retinal pigmenta...	ORPHA:3380
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Jeune Syndrome	Abnormality of retinal pigmentation, Abnormality of the liver	ORPHA:474
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Obesity	OMIM:614651
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal ...	ORPHA:456312
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Hsd10 Disease, Infantile Type	Hypoglycemia, Cardiomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Dystonia, Rod-cone dy...	ORPHA:391428
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Increased bone mineral density, Retinal calcification, H...	OMIM:127000
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Micropenis, Hypoplastic labia majora, A...	ORPHA:83628
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti...	ORPHA:2137
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Obesity	ORPHA:329249
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Optic atrophy, Hyperammonemia, Dystonia, Hyperalaninemia	OMIM:614739
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	ORPHA:226313
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w...	ORPHA:64744
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, ...	OMIM:615512
Leigh Syndrome	Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Gliosis, Failure to thrive	OMIM:256000
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Generalized dystonia, Writer's cramp, Tremor, Head titubation, Optic a...	OMIM:312080
Desmoid Tumor	Fibroma, Neoplasm of the skin, Abnormality of retinal pigmentation, Desmoid tumors	ORPHA:873
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Flexion con...	OMIM:609033
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Renal cyst, Downturned co...	ORPHA:261494
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased r...	ORPHA:177907
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Down Syndrome	Protruding tongue, Abnormality of the dentition, Renal hypoplasia/aplasia, Thick lower lip vermil...	ORPHA:870
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Isolated Exencephaly	Agenesis of corpus callosum, Anterior pituitary hypoplasia, Posterior pituitary agenesis, Materna...	ORPHA:563612
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Chromosome 8Q21.11 Deletion Syndrome	Cryptorchidism, Micropenis, Pigmentary retinopathy	OMIM:614230
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Pulmonary hypoplasia, Extrapulmonary sequestrum, ...	OMIM:200995
Microphthalmia, Syndromic 9	Cryptorchidism, Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Retinoblastoma	Abnormality of retinal pigmentation, Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemo...	ORPHA:790
Muckle-Wells Syndrome	Hepatomegaly, Camptodactyly of finger, Splenomegaly, Optic atrophy, Arthritis, Anemia	ORPHA:575
Joubert Syndrome 28	Joint laxity, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Tatton-Brown-Rahman Syndrome	Cryptorchidism, Obesity, Proportionate tall stature, Myeloid leukemia, Neuroendocrine neoplasm	ORPHA:404443
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentrati...	ORPHA:263455
Desmosterolosis	Abnormal cortical gyration, Splenomegaly, Hydrocephalus, Abnormality of neuronal migration, Macro...	ORPHA:35107
Smith-Kingsmore Syndrome	Cryptorchidism, Cafe-au-lait spot, Thrombocytopenia, Large for gestational age	OMIM:616638
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Optic atrophy, Increased hepatic echogenicity,...	OMIM:261680
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Duplication Of The Pituitary Gland	Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Decreased body weight, Con...	ORPHA:314621
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase c...	OMIM:309000
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly...	ORPHA:158687
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th...	ORPHA:83471
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Ogden Syndrome	Maternal diabetes, Micrognathia, Cardiomegaly, Deep philtrum, Short philtrum, High palate, Thick ...	OMIM:300855
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Impaired T cell function, Pure red cell aplasia, ...	OMIM:613179
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Increased circulating ACTH level, Obesity, Abdominal obesity, Oligomenorrhea	OMIM:219090
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, Ambiguous genita...	OMIM:613091
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Micrognathia, Obesity, Type II diabetes mellitus, Microdontia, Abnormal circulat...	ORPHA:3191
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ...	ORPHA:69665
Aspartylglucosaminuria	Macroorchidism, Splenomegaly, Hepatomegaly	ORPHA:93
Kleefstra Syndrome 1	Mandibular prognathia, Recurrent respiratory infections, U-Shaped upper lip vermilion, Natal toot...	OMIM:610253
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Cholesterol gallstones, H...	ORPHA:209902
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Nephrogenic rest, Renal hamartoma, Conge...	OMIM:267000
Igg4-Related Ophthalmic Disease	Eosinophilia, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Orchit...	ORPHA:449563
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly...	ORPHA:98849
Refsum Disease	Retinopathy, Splenomegaly, Abnormality of retinal pigmentation	ORPHA:773
Pagod Syndrome	Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genital...	ORPHA:991
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Aspartylglucosaminuria	Macroorchidism, Hepatomegaly, Vacuolated lymphocytes, Neutropenia	OMIM:208400
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Leber Optic Atrophy	Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leb...	OMIM:535000
Ulnar-Mammary Syndrome	Hypoplasia of penis, Cryptorchidism, Obesity, Decreased fertility, Breast aplasia, Hypoplastic ni...	ORPHA:3138
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Joint stiffness, Splenomegaly, Optic atrophy, ...	ORPHA:585
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Eruption failure, Papillary thy...	ORPHA:733
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Inguinal hernia, Multicystic kidney dysplasia, Large for gestational age, Macr...	ORPHA:500095
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia	OMIM:617914
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Flexion contra...	ORPHA:505248
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Hepatomegaly, Failure to thrive, Optic atrophy	ORPHA:2971
Lead Poisoning	Decreased HDL cholesterol concentration, Cranial hyperostosis, Imbalanced hemoglobin synthesis, A...	ORPHA:330015
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight, Horseshoe kidney, Downturned corners of mouth, Wide mouth, Thin vermilion ...	OMIM:300860
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Anemia...	OMIM:170100
Melas	Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Optic atrophy, Pigmentary r...	ORPHA:550
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit...	ORPHA:84064
Amish Lethal Microcephaly	Hepatomegaly, Limitation of joint mobility, Optic atrophy, Osteoporosis, Irritability, Decreased ...	ORPHA:99742
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Peripheral axonal neuropathy, Flexion contractur...	ORPHA:35069
Hyperostosis Cranialis Interna	Facial palsy, Optic atrophy, Osteosclerosis of the base of the skull, Calvarial hyperostosis, Hyp...	OMIM:144755
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Large for gestational age, Cryptorchidism, Hypopigmented skin patches, Hemangioma, C...	ORPHA:457485
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Turner Syndrome Due To Structural X Chromosome Anomalies	Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Obes...	ORPHA:99413
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo...	ORPHA:288
Mosaic Monosomy X	Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Obes...	ORPHA:99228
Monosomy X	Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Obes...	ORPHA:99226
Turner Syndrome	Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Obes...	ORPHA:881
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Nephrocalcinosis, Hyp...	ORPHA:90041
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Cryptorchidism, Orbital encephalocele	OMIM:164180
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the kidney, Large for gestational age, Precocious pu...	ORPHA:261652
Noonan Syndrome 5	Cryptorchidism, Cafe-au-lait spot, Multiple lentigines, Large for gestational age	OMIM:611553
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Optic atrophy, ...	OMIM:617301
Carpenter Syndrome 1	External genital hypoplasia, Precocious puberty, Cryptorchidism, Optic atrophy, Obesity, Polysplenia	OMIM:201000
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Hepat...	OMIM:312870
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Obe...	OMIM:181450
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Refractory anemia with ringed sideroblasts, Type II diabete...	ORPHA:1133
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:619662
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,...	ORPHA:50
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia, Hypopituitarism, Hypothyroidism	ORPHA:90065
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin...	ORPHA:77259
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Vaginal Atresia	Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di...	ORPHA:65681
Cockayne Syndrome B	Hepatomegaly, Small for gestational age, Abnormal auditory evoked potentials, Decreased nerve con...	OMIM:133540
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Hepatosplenomegaly, Multi...	ORPHA:464329
Dilated Cardiomyopathy With Ataxia	Microvesicular hepatic steatosis, Optic atrophy, Hypochromic microcytic anemia, Normochromic micr...	ORPHA:66634
Autosomal Dominant Centronuclear Myopathy	Cryptorchidism, Cavernous hemangioma, Large for gestational age	ORPHA:169189
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro...	ORPHA:227982
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i...	ORPHA:227990
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Felty Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Bone marrow...	ORPHA:47612
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Isolated Succinate-Coq Reductase Deficiency	Left ventricular hypertrophy, Pigmentary retinopathy, Weight loss	ORPHA:3208
Pycnodysostosis	Obtuse angle of mandible, Decreased serum insulin-like growth factor 1, Decreased response to gro...	ORPHA:763
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Abnormality of neuronal migration	ORPHA:2772
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Walker-Warburg Syndrome	Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Abnormality of neuronal migration, Mac...	ORPHA:899
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Macular coloboma, Megaloblastic anemia, ...	ORPHA:79282
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response, Diabetes mellitus	ORPHA:3198
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Norrie Disease	Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid...	ORPHA:649
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin	OMIM:617885
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Sp...	OMIM:260920
Wagro Syndrome	Decreased testicular size, Multiple exostoses, Obesity, Nephroblastoma, Hypoplastic female extern...	OMIM:612469
Stankiewicz-Isidor Syndrome	Hypospadias, Cryptorchidism, Pineal cyst, Abnormal optic disc morphology, Shawl scrotum, Micropenis	OMIM:617516
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly	OMIM:616897
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Cryptorchidism, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Chops Syndrome	Splenomegaly, Cryptorchidism, Optic atrophy, Obesity	OMIM:616368
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of...	OMIM:260400
Cerebral Visual Impairment	Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Retinopathy of pr...	ORPHA:447788
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Splenomegaly, Cryptorchidism, Hypothyroidism	OMIM:618440
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Optic atrophy, Polycystic ovaries, Failure to thrive	ORPHA:137675
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v...	OMIM:617022
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Optic atroph...	OMIM:251900
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Stt3B-Cdg	Optic atrophy, Thrombocytopenia	ORPHA:370924
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, ...	ORPHA:540
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Nephrogenic diabe...	OMIM:208085
Joubert Syndrome 8	Optic disc pallor, Hepatomegaly, Obesity, Pigmentary retinopathy, Prolonged neonatal jaundice	OMIM:612291
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hematological neoplasm, Abnorm...	ORPHA:101330
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:93274
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Rod-cone dystrop...	OMIM:612674
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Glutathionuria	Gray matter heterotopia	OMIM:231950
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h...	OMIM:118450
Poems Syndrome	Sclerosis of hand bone, Papilledema, Diabetes mellitus, Sclerosis of foot bone, Lymphadenopathy, ...	ORPHA:2905
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Multiple joint contractures, Vestibular areflexia, Optic atrophy, Intention tremor	ORPHA:504476
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin...	OMIM:231550
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty	OMIM:615866
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Pulmonary hypoplasia, Enlarged kidney	OMIM:314390
Digeorge Syndrome	Hepatic steatosis, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombo...	OMIM:188400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Cachexia, Open bite, Thick lower l...	ORPHA:85293
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop...	ORPHA:167
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Jaundice, Optic at...	OMIM:614231
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Satoyoshi Syndrome	Hypoplasia of the uterus, Amenorrhea	OMIM:600705
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Occipital encephalocele, Portal hypertension, Congenital hepatic fibrosis, Splenome...	ORPHA:1454
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ...	ORPHA:1782
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothorax, ...	ORPHA:731
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmu...	ORPHA:77293
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypermelanotic macule, Abnormality of ...	ORPHA:1775
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo...	ORPHA:1572
Prolidase Deficiency	Splenomegaly, White forelock, Abnormality of retinal pigmentation, Hepatomegaly	ORPHA:742
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Diabetes mellitus, Retinal atrophy, Retin...	ORPHA:191
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy, Chordee, Micropenis, Cl...	OMIM:309801
Lenz-Majewski Hyperostotic Dwarfism	Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Dysplastic corpus callosum, Chordee, ...	OMIM:151050
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop...	ORPHA:485421
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, ...	OMIM:603553
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdom...	OMIM:614921
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Splenomegaly, Hepatosplenomegaly	OMIM:309900
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Tall stature, Cachexia, Micrognathia, Visceral angiomatosis, Lymp...	ORPHA:109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Subcortical heterotopia, Agyria, Hydrocephalus, Gray matter heterotopia, Lissencep...	OMIM:614643
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Posterior pituitary hypoplasia, Abnormality of the anterior pituitary	ORPHA:75389
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte...	OMIM:615688
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Mental deterioration, Prolonged neonatal jaundice, Optic atrophy, Dystonia	OMIM:618868
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia	ORPHA:261250
Limb-Mammary Syndrome	Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl...	ORPHA:69085
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Renal cell carcinoma, Uterine leiomyoma,...	OMIM:150800
Noonan Syndrome 4	Cryptorchidism, Blue irides, Thrombocytopenia, Large for gestational age	OMIM:610733
Muscle-Eye-Brain Disease	Optic atrophy, Elevated circulating creatine kinase concentration, Cognitive impairment	ORPHA:588
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar...	ORPHA:1018
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, An...	OMIM:617591
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Renal salt wasting, Hyperkal...	ORPHA:275761
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Obesity, Hydronephrosis, Delayed eruption of permanent ...	OMIM:619269
Ramon Syndrome	Optic disc pallor, Enlarged labia minora, Gingival fibromatosis, Pigmentary retinopathy, Decrease...	OMIM:266270
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy	OMIM:207950
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Recurrent upper respira...	OMIM:619769
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Melioidosis	Lung abscess, Pneumonia, Respiratory tract infection, Acute infectious pneumonia, Abnormal paroti...	ORPHA:31202
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Multiple enchondromatosis, Abnormality of the...	ORPHA:861
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy	ORPHA:1021
Cystinosis, Nephropathic	Male infertility, Hepatomegaly, Hypopigmentation of the skin, Diabetes mellitus, Failure to thriv...	OMIM:219800
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg...	ORPHA:829
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormality of the tonsils, Aganglionic megacol...	ORPHA:567
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Cryptorchidism, Dilated third ventricle, Hypogonadism, Micropenis, Failure to thrive	ORPHA:500055
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, H...	OMIM:618476
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Congenital Horner syndrome, Hemolytic anemia, Few cafe-au-lait spots, Decreased response to growt...	OMIM:619503
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Limb joint contracture, Optic atrophy, Blepharospasm, Athetosis, Pigmentary re...	OMIM:617282
Mitochondrial Membrane Protein-Associated Neurodegeneration	Optic atrophy, Hand tremor, Dystonia, Mental deterioration, Motor axonal neuropathy	ORPHA:289560
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Optic atrophy, ...	ORPHA:847
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Optic atrophy, Gallbladder dysfunction, Cholecystitis, Dysto...	OMIM:250100
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T...	OMIM:614520
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, ...	ORPHA:2785
Momo Syndrome	Smooth philtrum, Delayed eruption of teeth, Large for gestational age, Abnormality of the thyroid...	ORPHA:2563
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Micr...	OMIM:614080
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithia...	OMIM:618775
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Multiple joint contractures, Optic atrophy, Abnormal autonomic nervous system physiology, Hepatos...	ORPHA:466934
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Hypospa...	OMIM:264090
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Reduced bone mineral density, Axonal loss, Hypotriglyceridemia,...	ORPHA:404454
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Wide penis, Downturned corners of mouth, S...	ORPHA:3455
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Inguinal hernia, Femoral hernia, Failure to thrive, Renal insufficiency, Pro...	ORPHA:96147
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Abnormal retinal vascular morphology...	ORPHA:33226
Pseudo-Torch Syndrome 2	Hepatomegaly, Gray matter heterotopia, Ascites, Polymicrogyria, Thrombocytopenia	OMIM:617397
Mosaic Trisomy 9	Hypoplasia of penis, Asplenia, Cryptorchidism, Abnormal liver lobulation, Abnormality of the uter...	ORPHA:99776
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Metachromatic Leukodystrophy, Adult Form	Short attention span, Decreased nerve conduction velocity, Optic atrophy, Neoplasm of the gallbla...	ORPHA:309271
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i...	ORPHA:101085
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Retinal calcification, Cortical thickening of long bone diaphyses, Anemia, Hyperphos...	ORPHA:93325
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon	ORPHA:447877
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula...	ORPHA:1493
Monosomy 22	Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo...	ORPHA:96123
Neurodegeneration With Brain Iron Accumulation 2A	Decreased nerve conduction velocity, Optic atrophy, Gliosis, Abnormality of visual evoked potentials	OMIM:256600
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Basal cell carcinom...	ORPHA:79431
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Sotos Syndrome	Cryptorchidism, Increased body weight, Overgrowth, Prolonged neonatal jaundice, Tall stature	OMIM:117550
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Hypouricemia, Abnormal erythrocyte enzyme level, Optic...	ORPHA:1187
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Impotence, Xerostomia, Hypohidrosis	ORPHA:43393
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Partia...	OMIM:618280
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Diffuse hepatic steatosis, Failure to thrive...	ORPHA:436271
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Optic nerve hypoplasia, Joint stiffness, Flexion contracture, Hy...	OMIM:609069
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Ocular albinism, Weight loss, Melan...	ORPHA:79430
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Orofacial cleft, High palate, Widely spaced...	ORPHA:2322
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Optic atrophy, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Ro...	OMIM:601539
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone...	OMIM:239200
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Intellectual Developmental Disorder, X-Linked 12	Cryptorchidism, Abnormality of neuronal migration	OMIM:300957
Mepan Syndrome	Abnormality of visual evoked potentials, Failure to thrive, Optic atrophy	ORPHA:508093
Brucellosis	Hepatomegaly, Liver abscess, Small for gestational age, Lung abscess, Abnormality of the peripher...	ORPHA:1304
Abetalipoproteinemia	Reticulocytosis, Abnormality of retinal pigmentation, Hepatic steatosis, Hepatomegaly, Hypopigmen...	ORPHA:14
Autosomal Dominant Hypocalcemia	Writer's cramp, Optic atrophy, Reduced bone mineral density, Depression, Hyperphosphatemia, Hypoc...	ORPHA:428
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Microcephalic Primordial Dwarfism, Dauber Type	Bilateral breast hypoplasia, Obesity, Primary amenorrhea	ORPHA:319675
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De...	ORPHA:466791
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Type II lissence...	ORPHA:370959
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Acquired Methemoglobinemia	Methemoglobinemia, Confusion	ORPHA:464453
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia	ORPHA:169090
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Premature ovarian insufficiency, Glioma, Rhabdomyosarcoma, Retinal p...	OMIM:251260
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Cerebrotendinous Xanthomatosis	Optic disc pallor, Osteoporosis, Xanthelasma, Abnormal circulating cholesterol concentration, Dem...	OMIM:213700
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Orofaciodigital Syndrome I	Hamartoma of tongue, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Hypothalamic hamartoma, He...	OMIM:311200
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Reduced number of intrahepatic bile ducts, Gray...	OMIM:614887
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Decreased nerve conduction velocity, Optic atrophy, Progressive psychomotor...	ORPHA:309263
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Increased hepatocellular lipid droplets, Fai...	OMIM:220110
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Progressive neurologic deterioration, Chorioretinal hyperpigmentation, Optic atroph...	OMIM:618329
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia, Insulin-resistant diabetes mellitus, Abnormal optic disc morphology, Congenita...	ORPHA:293967
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Glomerulopathy, Recurrent intrapulmonary hemorrhage, Diabetes i...	ORPHA:900
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis, Tremor, Optic atrophy, Depression, Blepharospasm, Choreoathetosis, Pigmentary ret...	OMIM:234200
Ciliary Dyskinesia, Primary, 1	Asplenia, Communicating hydrocephalus	OMIM:244400
Cowden-Like syndrome	Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma	OMIM:612359
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Oeis Complex	Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hydrocephalus, Abnormality of neuronal migration, Hepatic calcification, Pachygyria...	ORPHA:157
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Hardikar Syndrome	Intrahepatic bile duct dilatation, Hepatomegaly, Decreased serum insulin-like growth factor 1, In...	OMIM:301068
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Camurati-Engelmann Disease	Hepatomegaly, Facial palsy, Cachexia, Splenomegaly, Optic atrophy, Leukopenia, Hypogonadism, Dela...	ORPHA:1328
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Pseudohypoparathyroidism Type 1C	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79444
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy, Failure to thrive in infancy, Cachexia	ORPHA:702
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestas...	OMIM:615895
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu...	ORPHA:2463
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel...	OMIM:608233
Interstitial Cystitis	Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ...	ORPHA:37202
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Obesity	OMIM:618620
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Optic atro...	ORPHA:3205
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss	ORPHA:33577
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua...	OMIM:601152
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci...	OMIM:610199
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Obesity, Lateral ventricle dilata...	OMIM:617296
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Cachexia, Abnormality of the thyroid gland, Melanocytic nevu...	ORPHA:1969
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,...	ORPHA:95433
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual...	ORPHA:906
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Exaggerated ...	ORPHA:369837
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re...	ORPHA:168491
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Short attention span, Progressive...	ORPHA:580
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st...	OMIM:307200
Microsporidiosis	Glossitis, Sinusitis, Pneumonia, Bronchitis, Cachexia, Abnormality of the parathyroid gland, Uret...	ORPHA:2552
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia	ORPHA:228308
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Joint hypermobility	OMIM:617101
Ring Chromosome 12 Syndrome	Small for gestational age, Cryptorchidism, High, narrow palate, Glandular hypospadias, Uterine le...	ORPHA:1439
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus	ORPHA:2655
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Exaggerated startle response, Optic atrophy, Cognitive impairment	OMIM:617527
Friedreich Ataxia	Diabetes mellitus, Optic atrophy, Abnormality of visual evoked potentials, Decreased sensory nerv...	OMIM:229300
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus	ORPHA:457284
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Overweight, Abnormality of pattern visual evoked potentials, Obesity, Hy...	ORPHA:2822
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Cerebrotendinous Xanthomatosis	Osteopenia, Axonal degeneration, Progressive psychomotor deterioration, Osteoporosis, Increased s...	ORPHA:909
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ...	ORPHA:365
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Anterior pituitary hypoplasia, Portal hypertension, Elevated circulating aspartate ...	OMIM:619534
Mitochondrial Complex I Deficiency, Nuclear Type 28	Optic disc pallor, Optic neuropathy, Optic atrophy, Choreoathetosis, Hyperalaninemia	OMIM:618249
Combined Oxidative Phosphorylation Deficiency 29	Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Retinopathy	OMIM:616811
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Optic atrophy, Depression, Dementia, Type II diabetes mellitus, Memory impairment	OMIM:604121
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hepatic necrosis, Pigmentary retinopathy, Hyperinsulinemic hypoglycemia...	ORPHA:71212
Polycythemia Vera	Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight l...	ORPHA:729
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Re...	OMIM:259900
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, Large for gestatio...	OMIM:616026
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Overgrowth, Large for gestational age	ORPHA:254534
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response, Dystonia	ORPHA:79255
Distal Deletion 12Q	Micrognathia, Ectopic kidney, High, narrow palate, Proportionate tall stature, Vesicoureteral ref...	ORPHA:96149
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Right ventricular hype...	OMIM:616028
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal sen...	ORPHA:88628
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Flexion contracture	OMIM:618201
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis...	ORPHA:672
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Weight loss, Anemia, Lymphadenopathy, Increased ci...	ORPHA:29073
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Optic disc pallor, Dystonia, Acanthocytosis, Flexion contracture, Elbow flexio...	OMIM:618947
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ...	ORPHA:71493
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Hypoasparaginemia	OMIM:615574
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Joubert Syndrome	Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Pigmentary retinopathy, Dilated third ventricle, Optic atrophy, Retinal dysplasia	OMIM:613154
Retinitis Pigmentosa 74	Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity	OMIM:616562
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Chordee, Micro...	OMIM:619841
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, He...	ORPHA:781
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Optic atrophy, Contracture...	ORPHA:521426
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, Cafe-au-lait spot, Anemia	OMIM:614083
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Facial palsy, Optic disc coloboma, Congenital hypothyroidis...	OMIM:620186
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Failure to thrive, Small for gestational age, Cholestasis	OMIM:609015
Narcolepsy 7	Obesity	OMIM:614250
Eec Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Lymphoma, Hypoplasia of the t...	ORPHA:1896
Congenital Disorder Of Glycosylation, Type Iit	Iron deficiency anemia, Pineal cyst	OMIM:618885
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma, Spinal dysraphism	OMIM:612918
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Depression	OMIM:620114
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li...	OMIM:615219
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Short philtrum, Widely spaced teeth, Hepatomegaly, Cleft lip, Pulmonar...	OMIM:280000
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Optic neuropathy,...	OMIM:610505
1P36 Deletion Syndrome	Hepatic steatosis, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the spleen, A...	ORPHA:1606
Wolfram Syndrome	Diabetes mellitus, Joint stiffness, Abnormal mesentery morphology, Optic atrophy, Dementia, Abnor...	ORPHA:3463
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Optic ...	OMIM:181000
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita	OMIM:608013
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Optic atrophy, Cognitive impairment, Arthrogryposis multiplex congenita, Decrea...	ORPHA:320375
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Hepatomegaly, Optic atrophy, Disproporti...	ORPHA:394
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Biliary tract abnormality, ...	OMIM:137920
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Meckel Syndrome 14	Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus	OMIM:619879
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Pachygyria, Abnormality of neuronal migration, Macrogyr...	ORPHA:2671
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Abnormality of the pineal gland, Obesity	ORPHA:369950
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Facial capillary hemangioma, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepa...	OMIM:274000
Fraser Syndrome 2	Ambiguous genitalia, Hypoplasia of the thymus	OMIM:617666
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Large...	OMIM:229850
Usher Syndrome	Abnormality of retinal pigmentation, Decreased fertility	ORPHA:886
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Obesity, Pi...	ORPHA:98908
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Abnormality of the endocrine system, Cryptorchidism, Precocious puberty, Abnor...	ORPHA:438213
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma...	ORPHA:322
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Optic atrophy, Hypokalemia, Hypocalcemia	OMIM:617913
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Type I diabetes mellitus, Abnor...	ORPHA:436252
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the...	ORPHA:217253
Sarcoidosis	Increased T cell count, Leukopenia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Hyperthyroidi...	ORPHA:797
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Abnormality of visual evoked potentials, Optic atrophy	OMIM:616875
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Hypopigmentation of hair, Aganglionic megacolon, Splenomegaly, Hypopigmented skin p...	ORPHA:163746
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Abdominal situs inversus	OMIM:619123
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration	ORPHA:2065
Wolfram Syndrome 2	Diabetes mellitus, Optic atrophy, Optic neuropathy, Depression	OMIM:604928
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorc...	OMIM:603457
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c...	OMIM:618143
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Pseudohypoparathyroidism Type 1A	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:79443
3C Syndrome	Hydrocephalus, Abnormality of neuronal migration, Facial hemangioma	ORPHA:7
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt...	OMIM:107480
White-Sutton Syndrome	Failure to thrive, Optic nerve hypoplasia, Obesity, Abnormality of visual evoked potentials, Rod-...	OMIM:616364
Leopard Syndrome 1	Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Multiple lentigines, Delayed pu...	OMIM:151100
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentiti...	ORPHA:158668
Chromosome 6Pter-P24 Deletion Syndrome	Pigmentary retinopathy	OMIM:612582
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ...	ORPHA:220460
Norrie Disease	Retinal detachment, Optic atrophy, Dementia, Retinal dysplasia, Retinal fold	OMIM:310600
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Abnormality of the thyroid gland, Prostatitis, En...	ORPHA:449432
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Intestinal lymphangiectasia, Ascites, Hypothyroidism	OMIM:616843
Teratoma, Ovarian	Ovarian teratoma	OMIM:166950
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Orchitis, Thrombocytopenia, Leukocy...	ORPHA:99827
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:192
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Neoplasm, Vesicoureteral reflux, Hypospadias, Cryptorchidism, Pilomatrixoma, Tal...	ORPHA:353281
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Abnormality of neuronal migration	ORPHA:2318
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, H...	ORPHA:2072
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Cryptorchidism, Abnormality of neuronal migration	ORPHA:2063
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le...	ORPHA:99867
Lowry-Wood Syndrome	Pigmentary retinopathy, Small for gestational age	OMIM:226960
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Abnormal ethmoid bone morphology, Increased circulating androgen concentration...	ORPHA:2976
Biotinidase Deficiency	Splenomegaly, Optic atrophy, Hyperammonemia, Hepatomegaly	OMIM:253260
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Fabry Disease	Conjunctival telangiectasia, Hyperlipidemia, Optic atrophy, Reduced bone mineral density, Depress...	ORPHA:324
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Cachexia, Abnormality of visual evoked potentials	ORPHA:1933
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Inguinal hernia, Large for gestational age, Renal cyst, Macroglossia, Overgrow...	OMIM:617107
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Hepatomegaly, Aganglionic megacolon, Abnormality of the panc...	ORPHA:175
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Ascites, Right ventricular hypert...	OMIM:613177
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom...	ORPHA:647
Dpagt1-Cdg	Hepatomegaly, Tremor, Flexion contracture, Optic atrophy, Osteoporosis, Camptodactyly, Diffuse op...	ORPHA:86309
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Bil...	OMIM:194190
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Polymicrogyria, Hypothalamic hamartoma, Hamartoma of tongue	OMIM:619775
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Limb joint contracture	OMIM:620327
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormality of visual evoked potentials, Optic atrophy, Vitiligo	ORPHA:480898
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Dystonia	ORPHA:438216
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Pigmentary retinopathy, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:277400
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Optic atrophy, Dystonia, Mental deterioration, Emotional lability, Intentio...	OMIM:610217
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Tarsal synostosis, Optic atrophy, Abnormal optic disc morphology...	ORPHA:363417
Meckel Syndrome	Accessory spleen, Encephalocele, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Panc...	ORPHA:564
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Enlar...	ORPHA:217085
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Optic atrophy, Depression, Head tremor, Mental deterioration, Memory impairment	ORPHA:314404
Radio-Tartaglia Syndrome	Gray matter heterotopia, Hemangioma	OMIM:619312
Mucopolysaccharidosis Type 3	Hepatomegaly, Adenoiditis, Cardiomegaly, Splenomegaly, Recurrent tonsillitis, Optic atrophy, Pigm...	ORPHA:581
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatomegaly, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundice, Astrocytosis, A...	OMIM:203700
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Hydrocephalus, Lissencephaly	OMIM:617822
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Enlar...	ORPHA:217093
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Hamartoma of tongue	OMIM:617563
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials, Cachexia	ORPHA:1389
Pseudohypoparathyroidism Type 1B	Elevated circulating parathyroid hormone level, Decreased response to growth hormone stimulation ...	ORPHA:94089
Blau Syndrome	Clear cell renal cell carcinoma, Hyperpigmentation of the skin, Facial palsy, Abnormal retinal va...	ORPHA:90340
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Holoprosencephaly	Encephalocele, Abnormality of the spleen, Cryptorchidism, Hydrocephalus, Spinal cord tumor, Abnor...	ORPHA:2162
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism	OMIM:617746
Aicardi Syndrome	Spina bifida, Teratoma, Carcinoma, Gray matter heterotopia, Lipoma, Hepatoblastoma, Metastatic an...	OMIM:304050
Khan-Khan-Katsanis Syndrome	Lymphopenia, Pigmentary retinopathy, Neutropenia, Failure to thrive, Anemia	OMIM:618460
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia, Cryptorchidism	ORPHA:531151
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia	ORPHA:255138
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Epididymitis, Recurrent pneumonia, Bronchiectasis, Bronchioli...	OMIM:300755
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Truncal titubation	OMIM:618056
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Hepatomegaly, Hepatic periportal necrosis, Acute pancreatitis	ORPHA:26791
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervi...	ORPHA:50918
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep...	OMIM:619381
16P13.11 Microdeletion Syndrome	Cryptorchidism, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:261236
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno...	ORPHA:97297
Paternal Uniparental Disomy Of Chromosome 6	Macroglossia, Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ...	OMIM:618733
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Abnormality of visual evoked p...	ORPHA:309256
Primary Hyperoxaluria	Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Generalized ...	ORPHA:416
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Periventricular heterotopia	OMIM:619833
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus	ORPHA:1860
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Metachromatic Leukodystrophy	Decreased nerve conduction velocity, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the ...	ORPHA:512
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Aplasia of the sweat glands, Failure to thrive, Hepatomegaly	OMIM:612132
Bohring-Opitz Syndrome	Gray matter heterotopia, Facial hemangioma, Supernumerary nipple, Hyperechogenic pancreas	OMIM:605039
African Trypanosomiasis	Papilledema, Hepatomegaly, Abnormality of the menstrual cycle, Abnormality of the endocrine syste...	ORPHA:3385
Mend Syndrome	Abnormal auditory evoked potentials, Low-set ears	ORPHA:401973
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Ganglioneuroblastoma, Central diabetes ins...	ORPHA:293987
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Periventricular nodular heterotopia, Cryptorchi...	OMIM:603671
Fuchs Heterochromic Iridocyclitis	Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor...	ORPHA:263479
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Secondary am...	ORPHA:529962
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Johanson-Blizzard Syndrome	Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, Septate vagina, Urethrov...	OMIM:243800
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Failure to thrive, Abnormality of thyroid physiology	ORPHA:411629
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia	OMIM:130050
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly	OMIM:618278
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Peters Plus Syndrome	Hypospadias, Cryptorchidism, Optic atrophy, Congenital hypothyroidism, Hypoplasia of the uterus, ...	ORPHA:709
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Failure to thrive, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:255210
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:247200
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Cryptococcosis	Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Neoplasm, Pleural effusion, Pros...	ORPHA:1546
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D...	ORPHA:466768
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials	OMIM:609304
Orofaciodigital Syndrome Type 6	Bilateral cryptorchidism, Hypothalamic hamartoma, Abnormality of neuronal migration, Hamartoma of...	ORPHA:2754
Van Maldergem Syndrome 2	Cryptorchidism, Subcortical band heterotopia, Gray matter heterotopia, Hypoplastic nipples, Periv...	OMIM:615546
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Williams Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Cardiomegaly, P...	ORPHA:904
Williams-Beuren Syndrome	Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, M...	OMIM:194050
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Cryptorchidism, Supernumerary nipple, Periventricular heterotopia	OMIM:618929
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Malformation of the hepatic ductal plate, Asplenia, Sp...	OMIM:249000
Eisenmenger Syndrome	Hepatomegaly, Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic m...	ORPHA:97214
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors...	OMIM:309580
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Pmm2-Cdg	Elevated hepatic transaminase, Failure to thrive, Hypogonadotropic hypogonadism, Elevated circula...	ORPHA:79318
Leptospirosis	Papilledema, Hepatomegaly, Jaundice, Retinal hemorrhage, Hepatitis, Lymphadenopathy, Chorioretini...	ORPHA:509
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ...	OMIM:276820
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ...	ORPHA:363958
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnorm...	OMIM:261540
Holoprosencephaly 14	Periventricular heterotopia, Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Gray m...	OMIM:619895
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Abnormality of visual evoked potentials, Optic nerve...	ORPHA:667
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling, Weight loss	OMIM:607459
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Hype...	ORPHA:51
Loeys-Dietz Syndrome	Tall stature, Uterine rupture	ORPHA:60030
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Hamartoma, Vaginal atresia	OMIM:617088
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Vici Syndrome	Decreased proportion of CD4-positive helper T cells, Leukopenia, T lymphocytopenia, Abnormal thym...	OMIM:242840
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Neu-Laxova Syndrome 1	Cryptorchidism, Bifid uterus	OMIM:256520
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Periventricular heterotopia	OMIM:618870
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials	OMIM:614457
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Cryptorchidism, Pachygyria, Frontal polymicrogyria	OMIM:620024
Cln5 Disease	Abnormality of visual evoked potentials	ORPHA:228360
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Conge...	OMIM:256040
Arima Syndrome	Hepatomegaly, Gray matter heterotopia, Hepatic fibrosis, Cirrhosis, Occipital meningocele, Hepati...	OMIM:243910
Okamoto Syndrome	Splenomegaly, Bifid uterus	ORPHA:2729
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy, Early ossification of cap...	ORPHA:397715
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Alkaptonuria	Aminoaciduria, Prostatitis, Nephrolithiasis	ORPHA:56
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Optic nerve hypoplasia, Cryptorchidism, Optic disc coloboma, Hypogonadi...	ORPHA:536471
Coffin-Siris Syndrome 1	Hypospadias, Cryptorchidism, Aplasia of the uterus, Hemangioma, Clitoral hypertrophy	OMIM:135900
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Perisylvian predominant thick cortex pachygyria, Abnormality of neur...	ORPHA:98889
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Periventricular heterotopia, Cryptorchidism, Simplified gyral pattern, Lobar holoprosencephaly, L...	ORPHA:468631
Pineoblastoma	Papilledema, Progressive neurologic deterioration, Cognitive impairment, Memory impairment, Retin...	ORPHA:251909
Oculoectodermal Syndrome	Chorioretinal atrophy, Supernumerary nipple, Pineal cyst	OMIM:600268
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
6Q Terminal Deletion Syndrome	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration, Periventricular heter...	ORPHA:75857
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism, Hydrocephalus	ORPHA:221120
Koolen-De Vries Syndrome	Gray matter heterotopia, Cryptorchidism	OMIM:610443
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Generalized joint laxity, Fused cervical vertebrae, Abnorma...	ORPHA:508498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly, Gray matter het...	OMIM:615287
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Cryptorchidism, Hydrocephalus	OMIM:305450
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S...	OMIM:182250
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Cryptorchidism, Posterior pituitary hypoplasia, Abnormality of neuronal migration	ORPHA:464311
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation	OMIM:272460
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of visual evoked potentials, Facial palsy, Astrocytosis, Decreased body weight	ORPHA:258
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h...	ORPHA:51608
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,...	ORPHA:3472
Cerebrofacioarticular Syndrome	Gray matter heterotopia	ORPHA:314679
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Cryptorchidism	ORPHA:453499
7Q11.23 Microduplication Syndrome	Tracheomalacia, Craniosynostosis, Abnormal optic disc morphology, Joint hypermobility	ORPHA:96121
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Hyperpigmented streaks, Obesity...	OMIM:601803
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Cryptorchidism, Gray matter heterotopia, Holoprosencephaly, Polymicrogyria	OMIM:618820
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Cystocele, Melanocytic nevus, Abnormality of skin pigmentation, Uter...	ORPHA:286
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia, Right ventricular hypertrophy	OMIM:265380
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response	OMIM:618367
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Facial capillary hemangioma, Periventricular heterotopia, Splenomegaly, Cryptorchid...	OMIM:270400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Cryptorchidism, Hydrocephalus, Microlissencephaly, Gray matter hetero...	OMIM:210710
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Fontaine Progeroid Syndrome	Absent nipple, Periventricular heterotopia, Cryptorchidism, Hydrocephalus, Gray matter heterotopi...	OMIM:612289
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Cryptorchidism, Supernumerary nipple	ORPHA:453504
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Hamartoma of tongue, Periventricular heterotopia, Cryptorchidism, Simpli...	OMIM:615948
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Cryptorchidism, Supernumerary nipple	ORPHA:352665
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Failure to thrive, Pineal cyst	ORPHA:513456
Nk-Cell Enteropathy	Increased T cell count, Lymphoproliferative disorder	ORPHA:263665
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Joint hypermobility, Attention deficit hyperactivity disorder	OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Periventricular heterotopia, Asplenia, Cryptorchidism, Hydrocele testis, Polymicrogyria	ORPHA:261537
Mowat-Wilson Syndrome	Periventricular heterotopia, Asplenia, Cryptorchidism, Hydrocele testis, Polymicrogyria	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Periventricular heterotopia, Asplenia, Cryptorchidism, Hydrocele testis, Polymicrogyria	ORPHA:261552
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Hamartoma of tongue, Periventricular heterotopia	ORPHA:434179
Genitopatellar Syndrome	Cryptorchidism, Pachygyria, Periventricular heterotopia	OMIM:606170

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 Cdkn1b

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 Cdkn1b.

No publications found that use IMPC mice or data for Cdkn1b.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cdkn1b^em2(IMPC)H	Indel	Mice

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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