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Gene: Cyp19a1 MGI:88587

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Gene Summary

Name:
cytochrome P450, family 19, subfamily a, polypeptide 1
Synonyms:
Ar,  Int-5,  aromatase,  ArKO,  p450arom,  Int5,  Cyp19

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased leukocyte cell number Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 3.53×10-06
decreased mean corpuscular hemoglobin concentration Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 6.27×10-05
decreased exploration in new environment Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 3.70×10-05
decreased locomotor activity Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 4.41×10-05
increased fasting circulating glucose level Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 3.67×10-06
decreased lymphocyte cell number Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 8.96×10-09
increased circulating cholesterol level Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 1.26×10-10
increased anxiety-related response Cyp19a1tm1b(EUCOMM)Hmgu HOM   Late adult 2.36×10-05
decreased lean body mass Cyp19a1tm1b(EUCOMM)Hmgu HOM   Early adult 4.74×10-05
increased circulating serum albumin level Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 1.29×10-07
increased neutrophil cell number Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 1.36×10-06
abnormal gait Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 5.44×10-05
increased total body fat amount Cyp19a1tm1b(EUCOMM)Hmgu HOM   Early adult 5.61×10-06
decreased exploration in new environment Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 1.46×10-06
decreased locomotor activity Cyp19a1tm1b(EUCOMM)Hmgu HOM   Late adult 2.12×10-14
decreased circulating alkaline phosphatase level Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 7.42×10-11
thrombocytosis Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 4.82×10-13
increased blood urea nitrogen level Cyp19a1tm1b(EUCOMM)Hmgu HOM Early adult 3.12×10-07
tremors Cyp19a1tm1b(EUCOMM)Hmgu HOM Late adult 7.32×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Echo

M-Mode Images

92 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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Adult LacZ

LacZ Images Wholemount

5 Images

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Human diseases caused by Cyp19a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cyp19a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aromatase Deficiency
Osteopenia, Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic ... ORPHA:91
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Aromatase Excess Syndrome
OMIM:139300

The table below shows human diseases predicted to be associated to Cyp19a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Mania, Depression OMIM:125480
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Compulsive behaviors, Attention deficit hyperactivity disorder,... OMIM:137580
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Severe Primary Trimethylaminuria
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... ORPHA:468726
Congenital Generalized Lipodystrophy
Adipose tissue loss, Proportionate tall stature, Hepatic steatosis, Hepatomegaly, Insulin resista... ORPHA:528
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... OMIM:608709
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... ORPHA:79084
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... ORPHA:90791
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... ORPHA:99429
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Brunner Syndrome
Self-injurious behavior, Low frustration tolerance, Impulsivity, Aggressive behavior OMIM:300615
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Acne, Renal agenesis, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Cle... ORPHA:247768
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased sarcoplasmic glycogen... ORPHA:264580
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Mccune-Albright Syndrome
Gastroesophageal reflux, Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting,... ORPHA:562
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Microcephaly 9, Primary, Autosomal Recessive
Impulsivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Motor tics OMIM:614852
Androgen Insensitivity Syndrome
Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill... OMIM:300068
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Hepatomegaly, ... ORPHA:79083
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Hyperinsulinemi... ORPHA:3085
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612964
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Telangiectasia of the skin, Polycystic ... ORPHA:100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Ketotic hypoglycemia, Increased... ORPHA:79240
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... OMIM:151660
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Preeclampsia
Increased body mass index, Proteinuria, Small for gestational age, Autoimmunity, Abnormality of t... ORPHA:275555
Estrogen Resistance
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkalin... OMIM:615363
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:2348
Aromatase Deficiency
Osteopenia, Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic ... ORPHA:91
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin... ORPHA:2298
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... ORPHA:314478
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... ORPHA:401901
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Abnormal dental morphology, Cryptorchidism, Tooth malposition, Obesity, Hypo... ORPHA:85274
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... OMIM:615381
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Eczema, Cleft upper lip, Thrombocytopenia, Cleft palate, Hydrocele testis, Incre... ORPHA:96181
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Incre... ORPHA:785
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Dysmenorrhea, Acroosteolysis of distal phalanges (feet),... ORPHA:280365
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... ORPHA:216873
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... OMIM:619491
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Inability to walk, Inappropriate laughter, Emotional lability... OMIM:616269
Spermatogenic Failure 17
Male infertility OMIM:617214
Polyembryoma
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Abdominal mass, ... ORPHA:180229
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Umbilical hernia, Elevated hepatic transaminase,... OMIM:608594
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner... OMIM:614063
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Rabson-Mendenhall Syndrome
Dental crowding, Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, P... ORPHA:769
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati... OMIM:269700
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Donohue Syndrome
Hypermelanotic macule, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Gin... OMIM:246200
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidism, Jaundice, Optic ... OMIM:214110
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Aarskog-Scott Syndrome
Inguinal hernia, Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral crypt... OMIM:305400
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Self-biting OMIM:619988
Galactokinase Deficiency
Speech apraxia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Sm... ORPHA:79237
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... ORPHA:85292
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia... ORPHA:3000
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... OMIM:610489
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Thrombocythemia 2
Thrombocytosis OMIM:601977
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity, Thick eyebrow OMIM:309585
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Thrombocythemia 3
Thrombocytosis OMIM:614521
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Amed Syndrome, Digenic
Acute myeloid leukemia, Hyperpigmentation of the skin, Adrenal hypoplasia, Thrombocytopenia, Hypo... OMIM:619151
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... ORPHA:98764
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft palate, Hypopla... OMIM:601076
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Self-injurious behavior, Steppage gait OMIM:613641
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Thrombocytopenia, Micronodul... OMIM:606003
Myoectodermal Gonadal Dysgenesis Syndrome
Clitoral hypoplasia, Accessory spleen, Elevated circulating luteinizing hormone level, Highly arc... OMIM:618419
Seckel Syndrome 5
Hypospadias, Selective tooth agenesis, Cryptorchidism, Cleft palate, Oligodontia, High palate, Hy... OMIM:613823
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Frontal balding, Oligozoospermia... OMIM:602668
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... ORPHA:363400
Bangstad Syndrome
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, EEG abnormali... ORPHA:1227
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented... OMIM:610475
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Eczema, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of... ORPHA:3055
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ... OMIM:128235
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Hyperpigmentation of the skin, Increased circulat... OMIM:202010
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Congenital Fibrinogen Deficiency
Decreased testicular size, Abnormal bleeding, Tachycardia, Hemorrhagic ovarian cyst, Abnormality ... ORPHA:335
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Brushfield spots, Cryptor... ORPHA:912
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Hypogonadism-Cataract Syndrome
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... OMIM:240950
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Reactive hypoglycemia, Episod... ORPHA:324575
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... OMIM:610717
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, Ab... ORPHA:85443
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Abnormality... ORPHA:400
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Myocardial infarction, Sudden cardiac death, Os... OMIM:610947
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder OMIM:301033
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615983
Sandhoff Disease, Adult Form
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, S... ORPHA:309169
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Seckel Syndrome 1
Pancytopenia, Hypospadias, Dental crowding, Selective tooth agenesis, Cryptorchidism, Elbow flexi... OMIM:210600
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian insufficien... ORPHA:3464
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Abnormality of the kidney OMIM:615988
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... OMIM:612126
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity OMIM:611105
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Obesity OMIM:608320
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Thin vermilion border, Hypogonadism, Sparse body hair, Failure t... ORPHA:261483
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Onychauxis, Precocious puberty, Insulin-resistant diabetes mellitus, L... OMIM:262190
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Prolonged bleeding following procedure, Hypoglycemic seizures, Hepatic steatosis, Hyp... ORPHA:79259
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... OMIM:615993
Satoyoshi Syndrome
Alopecia, Malabsorption, Diarrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase, Alo... OMIM:600705
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... ORPHA:71529
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... ORPHA:2228
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... ORPHA:3282
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation, Thr... OMIM:615010
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Congenital sensori... OMIM:617872
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, High palate, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, ... OMIM:614866
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Rudiger Syndrome
Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Short mandibular condyles, Primary amenorrhea OMIM:264270
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Obesity, Spasti... OMIM:300055
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia ORPHA:94124
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, H... ORPHA:276575
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... OMIM:300604
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, ... ORPHA:276580
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... OMIM:268020
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Obesity, Renal cyst OMIM:615987
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Cryptorchidism, Nephrotic syndrome, Hypertension, Type I diabetes mellitus, Nephropa... ORPHA:1192
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Retinitis Pigmentosa
Hypoplasia of penis, Sensorineural hearing impairment, Hyperinsulinemia, Obesity, Optic atrophy, ... ORPHA:791
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cleft lip, Obes... OMIM:300148
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Hypoplastic fifth toenail, Sparse scalp hair, Renal malrotation, Decre... OMIM:615866
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile py... ORPHA:449395
46,Xy Sex Reversal 4
Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasi... OMIM:154230
46,Xx Sex Reversal 5
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... OMIM:618901
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... ORPHA:79262
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, High palate, Sparse hair, M... ORPHA:284180
Cednik Syndrome
Proteinuria, Abnormality of the dentition, Congestive heart failure, Optic atrophy, Nephrotic syn... ORPHA:66631
X-Linked Intellectual Disability, Van Esch Type
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... ORPHA:163976
Luscan-Lumish Syndrome
Shyness, Irregular menstruation, Advanced ossification of carpal bones, Obesity, Polycystic ovari... OMIM:616831
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... OMIM:610628
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
C Syndrome
Omphalocele, Hepatomegaly, Accessory oral frenulum, Cryptorchidism, Patent ductus arteriosus, Ren... OMIM:211750
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomega... ORPHA:465508
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Microphthalmia, Syndromic 9
Renal malrotation, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductu... OMIM:601186
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... OMIM:615362
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Conical tooth, Increased T cell count, Increased circulating IgG level, Inflammation of the large... ORPHA:98813
H Syndrome
Histiocytosis, Hypertriglyceridemia, Diabetes mellitus, Recurrent fractures, Lipodystrophy, Micro... ORPHA:168569
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... ORPHA:171706
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Posteriorly rotated ears, Cry... ORPHA:2849
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Hypertension, Increased c... OMIM:615962
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Peroxisome Biogenesis Disorder 1A (Zellweger)
Adrenal hypoplasia, High, narrow palate, Aminoaciduria, High palate, Intrahepatic biliary dysgene... OMIM:214100
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism, High palate OMIM:300428
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesi... OMIM:619737
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive... OMIM:616267
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Poor fine motor coordination, ... ORPHA:254531
Distal Deletion 10P
Hypoplasia of penis, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Non-mi... ORPHA:1580
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, M... ORPHA:347
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Dow... ORPHA:85282
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa... ORPHA:85450
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Pa... OMIM:616710
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Manganese Poisoning
Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Emotional lability, Irritab... ORPHA:306682
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Mental deterioration, Limb ataxia, Ga... OMIM:208920
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... ORPHA:249
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions OMIM:606053
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Abnormality of the dentition, Cryptorchid... OMIM:615982
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Impaired social interac... ORPHA:329249
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Small scrotum, Sparse s... ORPHA:85201
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... OMIM:203800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... ORPHA:101109
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Megalencephaly
Macroorchidism, Truncal obesity, Long penis ORPHA:2477
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
Igg4-Related Submandibular Gland Disease
Cholangitis, Xerostomia, Increased circulating IgG level, Abnormal salivary gland morphology, Sia... ORPHA:449432
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Tented upper lip vermilion, Hypospadias, Recurrent pneumonia, Cleft palate, Furr... OMIM:616449
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Cardiomegaly OMIM:300886
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Irritability, Athetosis, Neutropenia,... OMIM:229050
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... OMIM:615559
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Unsteady gait, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Ane... OMIM:159550
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Thick lower lip vermilion, Obesity OMIM:300238
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... OMIM:300602
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent pneumonia, Obesity, Primary amenorrhea, Hypogonadism, Micropeni... OMIM:614962
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:158350
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Omphalocele, Premature thelarche, Osteolysis involving bones of the upper limbs, Oste... ORPHA:371428
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia OMIM:617018
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla... ORPHA:3044
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure, Obesity ORPHA:3077
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Atkin-Flaitz Syndrome
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Macro... ORPHA:1193
46,Xx Sex Reversal 1
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:400045
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... ORPHA:99827
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess OMIM:604416
Multiple Symmetric Lipomatosis
Hepatomegaly, Joint stiffness, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morp... ORPHA:2398
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Osteolysis ORPHA:494
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Werner Syndrome
Increased bone mineral density, Lipodystrophy, Lipoatrophy, Myocardial infarction, Joint stiffnes... ORPHA:902
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Melioidosis
Shock, Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of ... ORPHA:31202
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... OMIM:620211
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... ORPHA:79299
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Choreoacanthocytosis
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... ORPHA:2388
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian... OMIM:261550
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Hepatic steatosis, Osteoporosis, Increased susceptibi... ORPHA:189427
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete... ORPHA:240085
17Q11.2 Microduplication Syndrome
Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Macro... ORPHA:139474
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidros... ORPHA:276556
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Hig... ORPHA:485405
Oculocerebrofacial Syndrome, Kaufman Type
Smooth philtrum, Absent eyebrow, High, narrow palate, Optic atrophy, Wide mouth, Abnormal upper l... ORPHA:2707
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Decreased fertility, Obesity, Low posterior hairline, High palate, Hypogo... ORPHA:2233
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Lack of facial subcutaneous fat, Selective tooth agenesis, Microcyti... ORPHA:2959
Meier-Gorlin Syndrome 7
Urethral stricture, Anal stenosis, Hypospadias, Heart block, Cryptorchidism, Narrow mouth, Cleft ... OMIM:617063
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... OMIM:604326
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... ORPHA:3261
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Premature loss of permanent teeth, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplan... OMIM:610644
Leprechaunism
Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Hepatomegaly, Enlarged ovar... ORPHA:508
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Renal salt wasting, Vomiting, Leydig cell neoplasia, Impair... ORPHA:361
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Vacuolated lymphocytes, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus... OMIM:256731
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movements, Or... ORPHA:454887
Partington Syndrome
Macroorchidism, Facial telangiectasia ORPHA:94083
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
46,Xy Sex Reversal 6
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... OMIM:613762
Perineural Cyst
Dyspareunia, Depression, Retrograde ejaculation, Male sexual dysfunction, Impotence, Infertility,... ORPHA:65250
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Depression, Limb... ORPHA:71517
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
48,Xxyy Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, ... ORPHA:10
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Abnorma... OMIM:242900
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, High palate, Primary amenorrhea OMIM:233400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... OMIM:201750
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Fused labia minora, Clitoral hypertrophy ORPHA:250977
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression, Irritabi... OMIM:618093
Bent Bone Dysplasia Syndrome 1
Natal tooth, Clitoral hypertrophy, Gingival overgrowth, Hepatosplenomegaly, Hirsutism OMIM:614592
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Fail... OMIM:228600
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Fused labia minora, Optic atrophy, Wide mouth, Elevated urinary 5-amino... OMIM:608688
Ramon Syndrome
Diabetes mellitus, Telangiectasia of the skin, Abnormal dental enamel morphology, Osteolysis, Fai... ORPHA:3019
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... OMIM:615924
Variant Abeta2M Amyloidosis
Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Reduced left ventricul... ORPHA:314652
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Junctional ectopic tachycardia, Cleft pa... OMIM:309801
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... ORPHA:99889
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... OMIM:615768
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Adipose tissu... OMIM:256040
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Truncal obesity, Hypog... ORPHA:73272
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Spastic tetraparesis, Neutropenia, Intention tremor OMIM:266130
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Isolated Splenogonadal Fusion
Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Bilateral cryptorchidism, ... ORPHA:457083
Intellectual Developmental Disorder, X-Linked 21
Tented upper lip vermilion, Dental crowding, Synophrys, Macroorchidism, Open mouth OMIM:300143
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Short Syndrome
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Absen... OMIM:269880
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Disproportionate tall sta... ORPHA:776
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Nausea, Vulval vari... ORPHA:71273
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Cachexia, Hypertension, Hypogonadism, Abn... ORPHA:97229
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Brucellosis
Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnorm... ORPHA:1304
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Meier-Gorlin Syndrome 3
Small scrotum, Hypospadias, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Hypoplastic ... OMIM:613803
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... OMIM:246700
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... ORPHA:543
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia ORPHA:100024
Dystonia 28, Childhood-Onset
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitive impairment, R... OMIM:617284
Alport Syndrome
Mesangial hypercellularity, Vomiting, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depos... ORPHA:63
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Low posterior hairline, Azoospermia, Bicornuate uterus, Renal dys... ORPHA:2578
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Beta-Ketothiolase Deficiency
Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Spasticity, Agitation, Oral aversion, Extrapyramida... ORPHA:134
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... ORPHA:210571
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Small scrotum, Cardiac arrest, Cryptorchidism, Gastroesophageal reflux, Abno... ORPHA:168593
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Cryptorchidism, Insulin resistance, Flexion contrac... OMIM:214150
Hyperphenylalaninemia, Bh4-Deficient, C
Progressive neurologic deterioration, Tremor, Dysphagia, Choreoathetosis, Irritability, Hypertoni... OMIM:261630
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95512
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... OMIM:602390
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology, Hypertension ORPHA:1879
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptake, Decreased circula... ORPHA:90674
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity, Oral mucosal blisters OMIM:169610
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu... OMIM:605309
Lipase Deficiency, Combined
Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis OMIM:246650
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, Congestive heart failur... ORPHA:324410
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Obesity, T... ORPHA:2377
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia OMIM:605909
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Absent facial hair, Sparse facial hair, High, narrow palate, Obes... ORPHA:2183
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Hyperhidrosi... ORPHA:276608
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy... ORPHA:251282
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... ORPHA:66624
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac... OMIM:617575
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Self-injurious behavior, Stereotypical hand wringing OMIM:618760
Huntington Disease-Like 2
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni... OMIM:606438
Temple Syndrome
Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati... ORPHA:254516
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... OMIM:300511
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... OMIM:618014
Meier-Gorlin Syndrome 1
Small for gestational age, Hyperconvex nail, Cryptorchidism, Hypoplastic labia minora, Flexion co... OMIM:224690
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Fragile X Syndrome
Sinusitis, Gastroesophageal reflux, Otitis media, Macroorchidism, Chronic otitis media ORPHA:908
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... ORPHA:110
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Trisomy 20P
Low anterior hairline, Downturned corners of mouth, Coarse hair, Short philtrum, Hernia, Microdon... ORPHA:261318
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Cleft palate, Downturned... OMIM:300882
Endocardial Fibroelastosis
Hypoplasia of penis, Cryptorchidism, Congestive heart failure, Restrictive cardiomyopathy, Anteri... ORPHA:2022
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Thin vermilion border, Hypogonad... OMIM:608540
Infantile Systemic Hyalinosis
Osteopenia, Telangiectasia of the skin, Recurrent fractures, Osteomalacia, Camptodactyly of finge... ORPHA:2176
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... ORPHA:96184
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:615109
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea OMIM:184700
Chung-Jansen Syndrome
Cryptorchidism, Synophrys, Obesity, Thin vermilion border, High palate, Short philtrum, Long phil... OMIM:617991
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Aganglionic megacolon, Hyperconvex nail, Patent ductus arteriosus, Flexion contractu... OMIM:613870
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:615108
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomeg... OMIM:235200
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Cholangitis, Abnormality of infra-orbital nerve, Orchitis, Retroperitone... ORPHA:449563
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... ORPHA:521406
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Downturned corners ... ORPHA:3455
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... ORPHA:411593
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, M... ORPHA:2975
15Q24 Microdeletion Syndrome
Broad eyebrow, Hypospadias, Decreased response to growth hormone stimulation test, Small for gest... ORPHA:94065
Wilson-Turner Syndrome
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity, Thick e... ORPHA:3459
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyop... ORPHA:26792
Coenzyme Q10 Deficiency, Primary, 9
Short attention span, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tan... OMIM:619028
Developmental And Epileptic Encephalopathy 59
Inability to walk, Self-injurious behavior, Ataxia OMIM:617904
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... ORPHA:263455
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Diarrhea, Increased urinary porphobilinogen, H... OMIM:121300
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Epispadias, Abnormality of skin pigmentation, Abnormal fallopian... ORPHA:2556
Seckel Syndrome 9
Recurrent urinary tract infections, Small for gestational age, Congenital diaphragmatic hernia, A... OMIM:616777
Maffucci Syndrome
Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary... ORPHA:163634
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvula, Bilateral renal age... OMIM:616258
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... ORPHA:2234
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate... ORPHA:2088
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... OMIM:277700
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Everted lower lip vermilion, Obesity ORPHA:85286
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Ataxia, Tremor, Myoclonus OMIM:616187
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Parkinsonism with fa... OMIM:128230
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Cln3 Disease
Acne, Vacuolated lymphocytes, Optic atrophy, Increased circulating androgen concentration, Pigmen... ORPHA:228346
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Lead Poisoning
Abnormal T cell morphology, Tubulointerstitial nephritis, Vomiting, Decreased male libido, Nausea... ORPHA:330015
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Hepatocellular carcinoma, ... ORPHA:369
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Pulmonary embolism, Gastroesophageal reflux, Chronic otitis m... ORPHA:96263
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Downturned corners of mouth, Clitoral hyp... ORPHA:398079
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Neuromuscular dysphag... ORPHA:449285
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Lipodystrophy, Ele... OMIM:613327
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... OMIM:615528
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Hy... ORPHA:177910
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Hypermelanotic macule, Bile duct polyp, Rectal prolapse, Abnormality of... OMIM:175200
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Wiedemann-Rautenstrauch Syndrome
Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Absent eyebrow, Alope... OMIM:264090
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Bilateral ... OMIM:617914
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... OMIM:618534
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Epispadias, Hypoplasti... ORPHA:2554
Roberts Syndrome
Progressive flexion contractures, Cleft upper lip, Cryptorchidism, Thrombocytopenia, Long penis, ... ORPHA:3103
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im... OMIM:615483
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... ORPHA:77296
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea OMIM:616946
Atypical Progressive Supranuclear Palsy Syndrome
Freezing of gait, Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Hypohidro... ORPHA:633
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
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Patent ductus arteriosus, Renal hypoplasia, Obe... OMIM:615996
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Gastroesophageal reflux, Advanced eruption ... ORPHA:818
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Bardet-Biedl Syndrome 2
Diabetes mellitus, External genital hypoplasia, Dilated cardiomyopathy, Obesity, Hypogonadism OMIM:615981
Meier-Gorlin Syndrome 2
Smooth philtrum, Narrow mouth, Hypoplastic labia majora, Gastroesophageal reflux, Labial hypoplas... OMIM:613800
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction, Clitoral hypertrophy OMIM:150700
Mucous Membrane Pemphigoid
Atypical scarring of skin, Autoimmunity, Gingivitis, Oral mucosal blisters ORPHA:46486
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... ORPHA:79230
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc... ORPHA:90301
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Hypoplasia of the primary ... OMIM:243800
Wagr Syndrome
Cryptorchidism, Obesity, Everted lower lip vermilion, Ambiguous genitalia, Displacement of the ur... ORPHA:893
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
Developmental And Epileptic Encephalopathy 89
Omphalocele, Smooth philtrum, Thin upper lip vermilion, Highly arched eyebrow, Sparse eyebrow, Hy... OMIM:619124
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Uveitis, Widely spaced primary teeth, Conjunctivitis, Hypopl... ORPHA:90321
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Hepatosplenomegaly, Clumsiness, Eyelid myoclonus, Myocl... ORPHA:2590
Ollier Disease
Precocious puberty, Osteolysis, Anemia, Joint stiffness ORPHA:296
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperpigmentati... ORPHA:90790
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, In... OMIM:302500
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Schaaf-Yang Syndrome
Thick eyebrow, Failure to thrive in infancy, Abnormality of the philtrum, Cryptorchidism, Flexion... OMIM:615547
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Bronchiectasis, Decreased circulating antibody ... OMIM:193670
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... ORPHA:2552
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, H... ORPHA:247585
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... ORPHA:363710
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Progressive Supranuclear Palsy-Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi... ORPHA:240103
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Thrombocytosis, Ataxia, Anorexia, Spastic hemiparesis, Leukocytosis, Leu... ORPHA:20
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic... OMIM:616033
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign... OMIM:617225
Childhood-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Clumsiness, Bradykinesia, Cardiomyopathy, Po... ORPHA:171439
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Congestive heart failure, Osteolysis, Increas... ORPHA:52430
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... ORPHA:139507
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Genitourinary And/Or Brain Malformation Syndrome
Omphalocele, Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus di... OMIM:618820
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Bloom Syndrome
Adipose tissue loss, Paronychia, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, ... ORPHA:125
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Obesity,... ORPHA:171839
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Paronychia, Hypogeusia, Alopecia ... OMIM:201100
Huntington Disease
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Weight loss, Clumsiness, Bradykin... ORPHA:399
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Medial Condensing Osteitis Of The Clavicle
Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio... ORPHA:57196
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Cortisone Reductase Deficiency 1
Alopecia, Acne, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Hereditary Sensory And Autonomic Neuropathy Type 2
Osteolysis, Foot acroosteolysis, Hyperhidrosis, Reduced bone mineral density, Abnormal cortical b... ORPHA:970
Phenylketonuria
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... OMIM:261600
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Thin upper lip vermilion, Hypoplasia of the bladder, Hydroureter, Small for gestational age, Sept... OMIM:300707
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Decreased distal sensory nerve action potential, Hepatic steatosis... OMIM:618400
Carpenter Syndrome
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Patent duct... ORPHA:65759
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... OMIM:119500
Yunis-Varon Syndrome
Cardiomegaly, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Short philtrum, ... ORPHA:3472
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose t... ORPHA:93160
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity, Narrow mouth OMIM:615984
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, EEG with abnormally slow frequencies, Abnormal reproductive system morphology, Congestive... ORPHA:70472
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Clonus, Babinski sign, Hypochromic microcytic anemia, Dysmetria, Dysdiadoch... OMIM:301310
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Synophr... ORPHA:254346
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the philtrum, Camptodactyly of finger, Cryptorchidism, Increa... ORPHA:3409
Atypical Werner Syndrome
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, He... ORPHA:79474
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Thin upper lip vermilion, External genital hypoplasia, Front... ORPHA:3041
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
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
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking OMIM:615048
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hemipar... ORPHA:444463
Alg6-Cdg
Abnormal circulating enzyme concentration or activity, Puberty and gonadal disorders, Jaundice, D... ORPHA:79320
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Conges... OMIM:619048
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip and ... OMIM:618874
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adeno... ORPHA:3392
Fgfr2-Related Bent Bone Dysplasia
Natal tooth, Extramedullary hematopoiesis, Hirsutism, Gingival overgrowth, Hepatosplenomegaly, Cl... ORPHA:313855
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
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia,... ORPHA:2795
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Optic atrophy, Ambiguous genitalia, Failure to thrive, Clitoral hyp... ORPHA:543470
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Kaufman Oculocerebrofacial Syndrome
Smooth philtrum, Thin upper lip vermilion, Optic disc pallor, Intestinal malrotation, Diastema, C... OMIM:244450
Ulnar-Mammary Syndrome
Hypoplasia of penis, Abnormal fingernail morphology, Camptodactyly of finger, Hypoplastic toenail... ORPHA:3138
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystrophy, Insulin-... OMIM:248370
Familial Expansile Osteolysis
Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Osteolysis, Thin bo... OMIM:174810
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Uveitis, Bloody diarrhea, Leukopenia, Vomitin... ORPHA:99826
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Dent... ORPHA:813
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Autoimmunity, Precocious puberty, Pituitar... ORPHA:91354
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Dental crowding, High, narrow palate, Hepatic fibrosis, ... OMIM:209900
Peters Plus Syndrome
Ureteral duplication, Clitoral hypoplasia, Widely spaced teeth, Renal duplication, Intestinal fis... ORPHA:709
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the philtrum, Abnormal hair pattern, Renal hypoplasia/aplasia, Non-midline cleft l... ORPHA:1770
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia ORPHA:306669
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... ORPHA:91347
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Fraser Syndrome 1
Abnormal small intestine morphology, Absent eyebrow, Hypospadias, Dental crowding, Cleft upper li... OMIM:219000
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... ORPHA:69663
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Cryptorchidism, Obesity, High palate, Sparse hair, Micro... OMIM:619185
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Tal... ORPHA:3152
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior ORPHA:382
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hypospadias, Cryptorchidism, Blue irides, Obesity, Congenital hypothyroidism, ... OMIM:614613
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Dysphagia, Up... ORPHA:276435
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Hepatic failure, Patent ductus arteriosus, Hyperbilirubinemia, Dec... OMIM:614886
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Hemochromatosis, Type 2B
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Congestive heart failure, Secondary am... OMIM:613313
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Ectopic kidn... ORPHA:140952
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... ORPHA:98763
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Conical tooth, Short philtrum, High pa... OMIM:135900
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Lipoatrophy, Lymphocytosis ORPHA:79087
Alström Syndrome
Abnormality of dental color, Urinary incontinence, Decreased response to growth hormone stimulati... ORPHA:64
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Obesity And Hypopigmentation
Overgrowth, Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Anti-thyroid peroxidase antibody positivity, Abnormal pituitar... ORPHA:64744
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... OMIM:616795
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Bradykinesia, Poor f... ORPHA:171442
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Osteolysis involving bon... ORPHA:73
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias, Narrow mouth, Abnormal oral... ORPHA:1355
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... ORPHA:97362
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia OMIM:620270
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Intellectual Developmental Disorder, Autosomal Recessive 46
Self-injurious behavior, Agitation, Ataxia, Aggressive behavior OMIM:616116
Multiple System Atrophy
Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abnormal pyramidal s... ORPHA:102
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Eczema, Abnormality of the endocrine system, Cryptorchidism, Obesity, Renal hypoplasia, Pseudohyp... ORPHA:464288
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty ORPHA:141333
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... OMIM:615157
3-Methylglutaconic Aciduria, Type I
Short attention span, Ataxia, Athetosis, Dementia, Cognitive impairment, Self-mutilation OMIM:250950
Developmental And Epileptic Encephalopathy 31A
Inability to walk, Self-injurious behavior, Difficulty walking OMIM:616346
Senior-Loken Syndrome 9
Osteopenia, Obesity, Cholestasis, Hepatic fibrosis, Hypogonadism OMIM:616629
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Melanonychia, Pancreatic adenocarcinoma, Intestinal obstruction, Sto... ORPHA:2869
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Aggressive behavior, Impulsivity, Limb ataxia, Gait ataxia, Progressive cerebel... OMIM:607454
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Overfriendliness OMIM:618010
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Inguinal hernia, Recurrent fractures, Patent ductus arteriosus, ... OMIM:618188
Hyperphenylalaninemia, Bh4-Deficient, B
Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irritability,... OMIM:233910
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Cryptorchidism, Thick lower lip vermilion, Wide mouth, Macroglossia, Abdominal obesi... OMIM:300354
Galactosemia I
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment OMIM:614018
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolytic anemia, Hepatomegaly, ... OMIM:619487
Wilson Disease
Acute hepatic failure, Hepatomegaly, Acute hepatitis, Elevated hepatic transaminase, Abnormality ... ORPHA:905
Xanthoma Disseminatum
Diabetes insipidus, Osteolysis ORPHA:158003
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Dental crowding, Deep philtrum, Flexion contracture, Disproportionate t... OMIM:309520
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Flexion contracture, Renal cyst, Hepatic fibrosis, Vomiting, Decreased circulati... OMIM:212065
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abnormal pyramidal s... ORPHA:98933
Saccharopinuria
Mental deterioration, Hypercystinemia, Hyperammonemia, Gait ataxia, Abnormality of circulating en... ORPHA:3124
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cognitive ... ORPHA:846
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction OMIM:108725
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Central Precocious Puberty In Male
Acne, Abnormality of the testis size, Pituitary microadenoma, Overgrowth, Abnormality of secondar... ORPHA:649929
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Abnormal... OMIM:619488
Perry Syndrome
Akinesia, Frontotemporal dementia, Depression, Inappropriate behavior, Disinhibition, Short stepp... OMIM:168605
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Melanocytic nevus, Kel... OMIM:314300
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... OMIM:176270
Autoerythrocyte Sensitization Syndrome
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Depression, Emotional lability, Sel... ORPHA:324636
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Acne, Unilateral renal agenesis, Increased circulating dehydroepiand... OMIM:158330
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Thin upper lip vermilion, Hypogonadotropic hypogon... ORPHA:353298
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... OMIM:188400
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Osteolysis, Hyperhidrosis, Weight loss ORPHA:391
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Dysphagia, Self-injurious behavior, Dif... OMIM:617695
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostosis, Facial h... OMIM:176920
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp... OMIM:619738
Proteus-Like Syndrome
Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ova... ORPHA:2969
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Orofacial cleft, Truncal obesity, Hypogonadis... ORPHA:127
Pseudohypoparathyroidism, Type Ic
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... OMIM:612462
Hypoglycemia, Leucine-Induced
Spasticity, Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia OMIM:240800
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Skin rash, Neutrophilic infiltration of the skin, Increas... OMIM:618048
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... OMIM:610198
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Depression, Iron deficiency anemia, Type I diabetes mellitus, Thromboc... OMIM:212750
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Elevated circulating creatine kinase concentration, Facial palsy, Hearing impairment, Opt... ORPHA:254886
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, High palate, Microp... ORPHA:284339
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Telangiectasia of the skin, Seborrheic dermatitis, Abnormality of the lymphatic syst... ORPHA:276280
Chromosome 17Q12 Deletion Syndrome
Renal cyst, High palate, Multicystic kidney dysplasia, Highly arched eyebrow, Sparse eyebrow, Cry... OMIM:614527
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Cryptorchidism, Flexion contracture, Dilated cardiomyopathy, Hypertrophic cardiomyop... OMIM:618815
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia ORPHA:1802
Pediatric Systemic Lupus Erythematosus
Myositis, Oral ulcer, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Lu... ORPHA:93552
Ddost-Cdg
Osteopenia, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thri... ORPHA:300536
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Proteinuria, Elevated circ... OMIM:607426
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Multiple System Atrophy, Cerebellar Type
Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abnormal pyramidal s... ORPHA:227510
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Orofaciodigital Syndrome I
Dry hair, Lobulated tongue, Hepatic fibrosis, High palate, Sparse hair, Alopecia, Hamartoma of to... OMIM:311200
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism, Obesity OMIM:615633
Intellectual Developmental Disorder, Autosomal Recessive 43
Self-injurious behavior OMIM:615817
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Ant... OMIM:261540
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Ohdo Syndrome
Small scrotum, Proteinuria, Sparse eyebrow, Cryptorchidism, Hypoplasia of teeth, Thin vermilion b... OMIM:249620
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Limitation of joint mobility, Neutrop... ORPHA:47612
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, B... OMIM:613280
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Cockayne Syndrome A
Dry hair, Abnormality of skin pigmentation, Sparse hair, Micropenis, Loss of facial adipose tissu... OMIM:216400
Poems Syndrome
Papilledema, Diabetes mellitus, Lipodystrophy, Polycythemia, Thrombocytosis, Hyperpigmentation of... ORPHA:2905
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Martin-Probst Syndrome
Bifid scrotum, Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Thick lower lip ve... OMIM:300519
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating luteinizing ... OMIM:617253
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... OMIM:613027
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Delirium ORPHA:208441
Carpenter Syndrome 1
Omphalocele, Hydroureter, External genital hypoplasia, Persistence of primary teeth, Precocious p... OMIM:201000
Lacrimoauriculodentodigital Syndrome
Xerostomia, Orofacial cleft, Microdontia, Vesicoureteral reflux, Abnormal salivary gland morpholo... ORPHA:2363
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Abnormal oral cavity morphology, Chronic otitis media, A... ORPHA:900
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Fractures of t... ORPHA:464329
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Stereotypical hand wringing ORPHA:397933
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Trisomy 5P
Hypoplasia of penis, Obesity, Renal hypoplasia/aplasia ORPHA:1742
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... OMIM:619386
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... ORPHA:398069
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Macrovesicular he... OMIM:617303
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Ataxia, Hearing impairment, Babinski sign, Abnormal pyramidal sign, Spasti... ORPHA:320391
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Hypoplasia of penis, Renal insufficiency, Failure to thrive, Femoral hernia... ORPHA:96147
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Homozygous 11P15-P14 Deletion Syndrome
Congenital sensorineural hearing impairment, Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Ck Syndrome
Abnormal cortical bone morphology, Slender build, Joint hypermobility OMIM:300831
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Pseudohypoparathyroidism, Obesity, Subcutaneous ossification, Elevated circulating ... OMIM:103580
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Classic Phenylketonuria
Depression, Self-injurious behavior, Attention deficit hyperactivity disorder, Mental deteriorati... ORPHA:79254
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Frontal balding, Precocious puberty,... ORPHA:786
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Bradykinesia, Ankle clonus, H... OMIM:617435
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Ob... OMIM:219090
Pde4D Haploinsufficiency Syndrome
Thin upper lip vermilion, Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Obesity... ORPHA:439822
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Oral ulcer, T lymphocytopenia, Increased circulating IgG level, Lymphocytosis, Neutropenia, Decre... ORPHA:169154
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Emotional lability, Gait ataxia... OMIM:137440
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Dental crowding, Ectopic kidney, Sparse eyebrow, Cryptorchidism, Narrow mouth, Thick... ORPHA:3063
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Cho... ORPHA:2591
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Spinocerebellar Ataxia Type 21
Cognitive impairment, Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm... ORPHA:101150
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors OMIM:619467
Prune Belly Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Recurrent... ORPHA:2970
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytosis OMIM:614034
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn... ORPHA:254892
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Circulating ... ORPHA:2035
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Depression, Gait ataxia,... OMIM:300623
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Parkinsonism, Facial palsy, Rigidity, Sensori... OMIM:258450
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Constipat... ORPHA:85447
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... ORPHA:157941
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Osteolysis, Generalized lipodystrophy, Osteolytic... ORPHA:90154
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Rheumatoid factor positive, Leukopenia, Increased circulating IgG level, Periungual ery... OMIM:615934
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Renal cyst, Ab... ORPHA:79303
Cimdag Syndrome
Hepatomegaly, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Chorea, Sensorineural hear... OMIM:619273
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ... ORPHA:668
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Juvenile Huntington Disease
Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Macrocephaly-Intellectual Disability-Autism Syndrome
Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic stea... ORPHA:210548
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Abnormal nerve conduction v... OMIM:619862
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubuloin... ORPHA:797
Prolactinoma
Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypoten... ORPHA:2965
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Malabsorption, Crypt... ORPHA:99812
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Abnormality of neutrop... ORPHA:229717
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Bardet-Biedl Syndrome 8
Hypogonadism, Renal dysplasia, Hypospadias, Obesity OMIM:615985
Kleefstra Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Downturned corners of mou... ORPHA:261494
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Renal hypoplasia... ORPHA:2863
Spinocerebellar Ataxia 17
Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Bradykinesia, Myoclo... OMIM:607136
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased respo... ORPHA:79444
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Heart murmur, Hypoplasia of teeth, Cleft palate, Wide... ORPHA:2728
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... ORPHA:2137
Wagro Syndrome
Proteinuria, Dental crowding, Nephroblastoma, Obesity, Hypertension, Hypoplastic female external ... OMIM:612469
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... ORPHA:137675
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Blau Syndrome
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Ab... ORPHA:90340
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Short Stature, Microcephaly, And Endocrine Dysfunction
Inguinal hernia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Di... OMIM:616541
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Xerostomia, Tubulointerstitial nephritis, Abnormal salivary gland morphology, Increased... ORPHA:79078
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin resistance... ORPHA:90153
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi... OMIM:617013
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Sensorineural hearing impairment, Optic a... OMIM:601338
Parkinson Disease 14, Autosomal Recessive
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Depression, Clumsiness, Up... OMIM:612953
O'Donnell-Luria-Rodan Syndrome
Self-injurious behavior, Skin-picking, Aggressive behavior OMIM:618512
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Xp21 Deletion Syndrome
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... ORPHA:261476
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Mala... ORPHA:3463
13Q12.3 Microdeletion Syndrome
Thin upper lip vermilion, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Atopic dermat... ORPHA:412035
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... OMIM:615395
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... OMIM:146255
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv... OMIM:618917
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hepato... OMIM:619013
Brooke-Spiegler Syndrome
Abnormal bleeding, Skin appendage neoplasm, Facial palsy, Salivary gland neoplasm, Cylindroma, Ab... ORPHA:79493
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Cachexia, Abnormal hair pattern, O... ORPHA:85293
Renal Hypodysplasia/Aplasia 1
Renal dysplasia, Proteinuria, Primary amenorrhea, Hypertension, Bicornuate uterus, Bilateral rena... OMIM:191830
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... ORPHA:542310
Chops Syndrome
Curly hair, Gastroparesis, Thick hair, Cryptorchidism, Splenomegaly, High, narrow palate, Patent ... OMIM:616368
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... ORPHA:563
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi... ORPHA:2774
Melas
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Vomiting, Nephropathy, Hypothyroid... ORPHA:550
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:212140
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Hyperactivi... ORPHA:760
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Fa... OMIM:157640
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Frontal balding, Facial... OMIM:160900
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Synophrys, Increased body weight, Thin vermilion border, Gastroesophageal reflux,... ORPHA:589905
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Ataxia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Agitation, Hemi... OMIM:615688
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin... ORPHA:3095
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg... OMIM:222300
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Hyp... ORPHA:1830
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Renal agenesis, Splenomegaly, Cryptorchidism, Elbow flex... OMIM:618440
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria, Thrombocytopenia OMIM:189800
Postinfectious Vasculitis
Rheumatoid factor positive, Gastrointestinal inflammation, Bacterial endocarditis, Membranoprolif... ORPHA:48435
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Synophrys, Renal cyst, Down... OMIM:122470
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, High palate, Decr... ORPHA:79330
Pituitary Gigantism
Premature pubarche, Tall stature, Elevated circulating growth hormone concentration, Hyperhidrosi... ORPHA:99725
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Prolonged bleeding time, Proteinuria, Myoc... ORPHA:182050
Proteus Syndrome
Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Abnormality of ski... ORPHA:744
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Septo-optic dysplasia, Decreased response to growth hormone stimulat... ORPHA:95494
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneu... OMIM:602450
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Babinski si... OMIM:264470
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased respo... ORPHA:79443
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Bradykinesia, Spastic gait OMIM:619052
Familial Mediterranean Fever
Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Nephropathy, Pancreatitis, Vasculitis, L... ORPHA:342
Donnai-Barrow Syndrome
Omphalocele, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Widow's peak, ... ORPHA:2143
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... OMIM:136680
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Retroperitoneal fib... ORPHA:35687
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Imp... ORPHA:240071
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Hemiplegia/hemiparesis, Chorea, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombo... ORPHA:289916
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Morm Syndrome
Truncal obesity, Micropenis, Abnormality of the kidney ORPHA:75858
Hemochromatosis, Type 3
Elevated hepatic transaminase, Purpura, Hypogonadotropic hypogonadism, Increased circulating ferr... OMIM:604250
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Limited elbow movement, Joint stiffness, Decreased serum leptin, Flexion contracture... OMIM:614008
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Letharg... ORPHA:71212
Variegate Porphyria
Tachycardia, Porphyrinuria, Increased urinary porphobilinogen, Vomiting, Constipation, Elevated u... OMIM:176200
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Optic nerve hypoplasia, Sparse eyebrow, Chronic diarrhea, Chroni... OMIM:300953
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Self-mutilation OMIM:308950
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Paraparesis, Sensorineural hearing impairment, Oromotor apraxia, C... OMIM:617854
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Genital ulcers, Antinuclear antibody positivity, O... OMIM:616744
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Opt... ORPHA:3157
Transaldolase Deficiency
Abnormality of the kidney, Telangiectasia, Anemia, Hepatosplenomegaly, Abnormality of the clitori... ORPHA:101028
Rosaï-Dorfman Disease
Osteolysis, Anemia ORPHA:158014
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Cockayne Syndrome B
Dry hair, Abnormality of skin pigmentation, Sparse hair, Micropenis, Loss of facial adipose tissu... OMIM:133540
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Congenital diaphragmatic hernia, Abnormal optic disc morphology, Short ph... ORPHA:96121
Infantile Dystonia-Parkinsonism
Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Abnormal circulating... ORPHA:238455
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis, Increase... OMIM:615830
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Decreased response to growth hormone stimulation t... OMIM:307200
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas... ORPHA:53351
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous system ph... ORPHA:329284
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Oral ulcer, Malar rash, Systemic lu... OMIM:301080
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Splenomega... ORPHA:77259
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Abnormal autonomic nervous system physiology, Hyp... ORPHA:369873
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... ORPHA:100984
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Multifocal epileptiform discharges, EEG with generalized ... ORPHA:33069
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... OMIM:307030
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Failure to thrive, Natal tooth, Brittle hair, Increased circulating IgA leve... OMIM:616395
Cohen Syndrome
High, narrow palate, Low anterior hairline, Abnormality of skin pigmentation, Short philtrum, Neu... ORPHA:193
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality OMIM:617836
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Essential Fructosuria
Abnormal erythrocyte enzyme level, Hyperglycemia ORPHA:2056
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Small scrotum, Anal ste... OMIM:606170
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Increased mitochondrial number, Babinski sign, Hyperglycinemia OMIM:619063
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Parkinson-Dementia Syndrome
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia OMIM:260540
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Confusion, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapares... OMIM:607483
Denys-Drash Syndrome
Proteinuria, Male pseudohermaphroditism, Nephrotic syndrome, Gonadal dysgenesis, Hypertension, Ne... ORPHA:220
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Orthostatic Hypotension 1
Retrograde ejaculation OMIM:223360
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Microphallus OMIM:300957
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
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
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased motor nerve conduction velocity, Hypergonadotropic hypog... ORPHA:298
Mosaic Monosomy X
Myocardial infarction, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Gastrointestina... ORPHA:99228
Monosomy X
Myocardial infarction, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Gastrointestina... ORPHA:99226
Turner Syndrome
Myocardial infarction, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Gastrointestina... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Ectopic kidney, Hypoplastic toenails, High, narrow palate, Gastrointestina... ORPHA:99413
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ... ORPHA:282166
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Xerostomi... ORPHA:220393
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Bradykinesia, Blepharospasm,... ORPHA:683
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... ORPHA:79644
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, External genital hypoplasia, Elevated circul... ORPHA:79322
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Self-injurious behavior, Aggressive behavior OMIM:300699
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Osteolysis, Umbilical hernia ORPHA:137834
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Dystonia, Loss of ambulation OMIM:617916
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, EEG with generalized epileptiform discharges, As... ORPHA:35878
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Chorea, Bradykinesia, Lethargy, Hypertrophic cardiomyopathy OMIM:618683
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Porta... OMIM:609136
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Gait disturbance, Myo... ORPHA:391417
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Failure to thrive in infancy, Neutrophilia, Elevated cir... OMIM:612852
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Malakoplakia
Abnormal bleeding, Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Abnorma... ORPHA:556
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Ankle flexion contracture, Cleft upper lip,... OMIM:268300
Alg12-Cdg
Short philtrum, Gastroesophageal reflux, Micropenis, Hypospadias, Partial absence of specific ant... ORPHA:79324
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Optic atrophy, Dysmetria, Bradykinesia, Progressive cere... ORPHA:98755
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Holoprosencephaly
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Deep philtrum, S... ORPHA:2162
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Porphyria Variegata
Neurogenic bladder, Tachycardia, Hyperpigmentation of the skin, Scarring, Chronic kidney disease,... ORPHA:79473
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Atax... ORPHA:263501
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Triokinase And Fmn Cyclase Deficiency Syndrome
Broad-based gait, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... ORPHA:412
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:264700
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Loss of ambulation, Clum... ORPHA:206443
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Osteoporosis, Macrovesicu... OMIM:618234
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Clcn4-Related X-Linked Intellectual Disability Syndrome
Hyperactivity, Aggressive behavior, Unsteady gait, Depression, Progressive cerebellar ataxia, Sel... ORPHA:485350
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, External genital hypoplasia, Obesity, Renal hypoplasia, Pigmentary retin... OMIM:600151
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertonia OMIM:618824
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Babinski sign, Steppage gait, Hypertonia, Mental deterioration, Spasticity OMIM:609260
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Inability to walk, Self-injurious behavior, Inappropriate laughter, Bruxism, Stereotypical hand w... OMIM:614254
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Hyperhidrosis, Premature graying of hair, Periodontitis, ... ORPHA:1775
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Hypoplasia of the thymus, Decreased ci... OMIM:208900
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity OMIM:300983
Von Hippel-Lindau Disease
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary cystadenom... ORPHA:892
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Bradykinesia OMIM:618317
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis... ORPHA:79319
Bloom Syndrome
Decreased circulating IgG level, Hepatic steatosis, Hypopigmentation of the skin, Small for gesta... OMIM:210900
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Gingival overgrowth, Fine hair, Nephroti... OMIM:619428
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Leukopenia, Conjunctivitis, Hernia, Decreased circulating IgG level, Tricusp... ORPHA:505248
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Cardiac arrest, Premature thelarche, Oral-pharyngeal dysphagia, Elevated circulating c... OMIM:616878
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi... OMIM:619950
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Childhood-onset truncal obesity OMIM:610156
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Sensorineural hearing impairment, Sp... OMIM:613861
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia ORPHA:3327
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Craniofacial osteosclerosis... ORPHA:324964
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Lymphocytic inters... OMIM:618495
Monosomy 13Q34
Metrorrhagia, Hypercalcemia, Epistaxis, Insulin resistance, Obesity, Hematochezia, Prolonged prot... ORPHA:96168
Fraser-Like Syndrome
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger OMIM:229230
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Congestive heart failure, Hypert... ORPHA:225
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:277440
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Abnormality of the uterus, Short philtrum, Ga... ORPHA:567
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Dysphagia, Dementia, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls OMIM:159950
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, ... OMIM:300894
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration, Dysp... OMIM:313200
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Hereditary Methemoglobinemia
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity, Methemoglobinemia ORPHA:621
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Dysdiadochokinesis, Slurred speech, Bradykinesia OMIM:609161
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Depression, Bradykinesia, Dementia, Gait distu... OMIM:168601
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity, Joint stiffness ORPHA:1078
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Joubert Syndrome 20
Inability to walk, Self-mutilation, Aggressive behavior OMIM:614970
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Irritability, Thrombocytopenia ORPHA:848
Leber Optic Atrophy And Dystonia
Optic atrophy, Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction OMIM:500001
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Anorexia, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombocytopenia ORPHA:79312
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan... ORPHA:91139
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scarring, Antinuclear antibody positivity, Auto... ORPHA:90283
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone con... ORPHA:2796
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer... ORPHA:254881
Congenital Myopathy 9A
Cryptorchidism, Obesity, Tongue fasciculations OMIM:618822
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility ORPHA:436141
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Orofacial cleft, Clitoral hypoplasia... ORPHA:97360
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Hyperactivity, Ataxia, Aggressive behavior OMIM:271980
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Craniosynostosis, Cryptorchidism, Camptodactyly of toe, Umbilical h... OMIM:175700
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Optic ... OMIM:181000
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... OMIM:619418
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:613643
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Bruxism ORPHA:48652
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Microdontia, Sparse hair, Decreased circulating IgG l... OMIM:620005
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration... ORPHA:309854
Rett Syndrome
Increased serum pyruvate, Limb apraxia, Hyperammonemia, Bradykinesia, EEG abnormality, Cholecysti... ORPHA:778
Squalene Synthase Deficiency
Hypospadias, Failure to thrive in infancy, Optic nerve hypoplasia, Bilateral cryptorchidism, Elbo... OMIM:618156
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Na... ORPHA:1307
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Thin upper lip vermilion, Cryptorchidism, Splenomegaly, Pancreatic... ORPHA:1655
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... OMIM:161900
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Paraparesis, Choreoathetosis, Leukopenia, Anemia, Tetraparesis, Lethar... ORPHA:27
Boutonneuse Fever
Renal insufficiency, Maculopapular exanthema, Skin rash, Petechiae, Cervical lymphadenopathy, Vas... ORPHA:83313
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Decreased circulating a... OMIM:618165
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Natal tooth, Hypospadias, Persistence of primary teeth, Protruding ... OMIM:610253
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Tremor, Rigidity, Hyperhidrosis, Bradykinesia, Limb hy... ORPHA:70594
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... ORPHA:96
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Progressive flexion contractures, Ataxia, Parkinsonism, Postural tremor, Rigidity, B... ORPHA:98808
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... OMIM:617388
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Tachycardia, Prolonged bleeding time, Unilateral cryptorchidism,... OMIM:618280
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Bradykinesia, Apraxia, Spasticity OMIM:221820
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor OMIM:620158
Ogden Syndrome
Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Deep philtrum, Ventricular tac... OMIM:300855
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Myocardial infarction, Overweight, High pa... ORPHA:457240
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatom... OMIM:612541
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure, Absence of subcutaneous fat, Os... OMIM:176670
Alopecia Areata 1
Autoimmunity OMIM:104000
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Inability to walk, Limb fasciculations, Abnormal glucose homeostasis, Dysphagia ORPHA:90117
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice... ORPHA:91547
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism, Hypogonadotropic hypog... OMIM:604168
Tenosynovial Giant Cell Tumor
Joint stiffness, Limitation of joint mobility, Osteolysis, Localized osteoporosis, Chondrocalcinosis ORPHA:66627
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Acne, Diarrhea, Vacuolated lymphocytes, Thick lower lip ver... OMIM:208400
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Chronic diarrhea, Weight loss, Lymphadenop... ORPHA:2221
Vici Syndrome
Elevated circulating creatine kinase concentration, Albinism, Leukopenia, T lymphocytopenia, Abno... OMIM:242840
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Abnormal external genitalia, Abnormal circulating corticosterone level, ... ORPHA:556030
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Leukocytosis, Chorea, Agitation, Dys... ORPHA:94093
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:98853
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, C... ORPHA:904
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Downturned corners of mouth, ... OMIM:618347
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, Achilles tendon con... OMIM:616263
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Cardiomyopathy, Organic aciduria, Dysphagia, ... OMIM:255100
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Hyperechogenic pancre... ORPHA:456312
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Hypoglycemia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, D... OMIM:617710
Neuroferritinopathy
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... ORPHA:157846
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... OMIM:617044
Hereditary Coproporphyria
Dark urine, Tachycardia, Extension of hair growth on temples to lateral eyebrow, Porphyrinuria, A... ORPHA:79273
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
Huntington Disease
Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:300635
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Hajdu-Cheney Syndrome
Osteopenia, Hepatomegaly, Failure to thrive, Inguinal hernia, Hypospadias, Recurrent fractures, M... ORPHA:955
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, EEG abnormality,... ORPHA:819
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... ORPHA:98908
African Trypanosomiasis
Urinary incontinence, Vomiting, Conjunctivitis, Iritis, Nausea, Abnormal EKG, Hepatomegaly, Papil... ORPHA:3385
Cushing Disease
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... ORPHA:96253
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:98855
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Decreased body weight, Spasticity, Failure to thrive ORPHA:99852
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Abnormal external genitalia, Abnormal circulating corticosterone level, ... ORPHA:556037
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Large for gestational age, Gonadotropin defici... ORPHA:672
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Vomiting, Neutropenia, Abnormal bleeding, Hepa... ORPHA:90051
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kin... ORPHA:98863
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight, EEG abnormality, H... OMIM:182290
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Anti-dsDNA antibody positivity, Juvenile r... ORPHA:1855
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia ORPHA:228169
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... ORPHA:314473
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Obesity, ... ORPHA:251071
Hereditary Late-Onset Parkinson Disease
Akinesia, Impulsivity, Depression, Dementia, Agitation, Shuffling gait, Low frustration tolerance... ORPHA:411602
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... OMIM:608836
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl... ORPHA:466722
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Chilblains, I... OMIM:619858
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Hepatomegaly, Failure to thrive, Renal cyst, Hypoalbuminemia, Hepatic fibrosis... OMIM:602579
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Rigidity, Bradykinesia ORPHA:306686
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G... OMIM:615530
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcin... ORPHA:534
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancrea... ORPHA:54251
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Downturned corners of mouth, Obesity ORPHA:254525
Trichothiodystrophy 1, Photosensitive
Brittle hair, Flexion contracture, Sparse hair, Tiger tail banding, Decreased circulating IgG lev... OMIM:601675
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Whipple Disease
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Pericarditis, Cachexia, Myocardial infar... ORPHA:3452
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Hypogonadotropic hypogonadism, Optic atrophy, Dysphagia, Oligodontia, ... ORPHA:447896
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, A... ORPHA:247598
Metatropic Dysplasia
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... ORPHA:2635
Hypocalcemic Vitamin D-Dependent Rickets
Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ossification, Rick... ORPHA:289157
Parenti-Mignot Neurodevelopmental Syndrome
Aggressive behavior, Self-injurious behavior, Skin-picking, Compulsive behaviors, Attention defic... OMIM:619873
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Inguinal hernia, Myocardial infarction, Limitation of joint mobility, Osteoporosis,... OMIM:236200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadeno... ORPHA:98849
Say-Barber-Miller Syndrome
Knee flexion contracture, Abnormal T cell morphology, High palate, Decreased circulating IgG leve... ORPHA:3132
Microphthalmia, Syndromic 12
Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidism, Cleft palate, Bicornuate... OMIM:615524
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Failure to thrive OMIM:613845
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, EEG with spike-wave c... ORPHA:36387
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor... ORPHA:206594
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait OMIM:600363
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Graft Versus Host Disease
Fasciitis, Myositis, Oral ulcer, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea... ORPHA:39812
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Disproportionate tall stature, Mitral regurgitation, Abdominal obesity, Short phi... OMIM:301039
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... OMIM:614298
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
X-Linked Acrogigantism
Enlarged pituitary gland, Increased body mass index, Tall stature, Decreased thyroid-stimulating ... ORPHA:300373
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... OMIM:312080
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Lower limb spasticity,... ORPHA:66634
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic s... OMIM:613658
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Anemia OMIM:226300
Smith-Kingsmore Syndrome
Smooth philtrum, Thin upper lip vermilion, Curly hair, Large for gestational age, Cryptorchidism,... OMIM:616638
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Bradykinesia, Spastic tetraplegia, Spastic paraparesis OMIM:615643
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Dementia, Dy... OMIM:168600
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... ORPHA:227990
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Spinocerebellar Ataxia 23
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia OMIM:610245
Radio-Tartaglia Syndrome
Dental crowding, High, narrow palate, Synophrys, Low anterior hairline, High palate, Short philtr... OMIM:619312
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Pigmentary reti... OMIM:605231
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Hy... ORPHA:340
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Abnormal circulating calcium concentration, Den... OMIM:619795
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... OMIM:300400
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Elevated hepatic transaminase, Diabetes mellitus, Small scrotum, External genital hyp... OMIM:614231
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Autoimmunity, Mesangial hyp... ORPHA:329918
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre... ORPHA:100924
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Ventral hernia, Inguinal hernia, Diabetes mellitus, Hypertriglyceridemia, Widened atr... ORPHA:536532
Renal Agenesis
Renal insufficiency, Absent vas deferens, Proteinuria, Renal agenesis, Unilateral renal agenesis,... ORPHA:411709
Down Syndrome
Anal atresia, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Renal hypop... ORPHA:870
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, V... ORPHA:116
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm... OMIM:603516
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypo... ORPHA:2470
Adenocarcinoma Of The Esophagus
Barrett esophagus, Esophageal carcinoma, Obesity, Lymphadenopathy, Gastroesophageal reflux ORPHA:99976
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Woolly hair, Ventr... OMIM:610476
Desmoid Tumor
Gastrointestinal hemorrhage, Limitation of joint mobility, Osteolysis ORPHA:873
Cockayne Syndrome
Dry hair, Urinary incontinence, Congenital contracture, Gastroesophageal reflux, Hepatomegaly, Ab... ORPHA:191
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria OMIM:615578
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Neuronal Intranuclear Inclusion Disease
Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impairment OMIM:603472
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Papilledema, Hypercholesterolemia, Bilateral cryptorchidism, Obesi... OMIM:619471
Leprosy
Absent eyebrow, Alopecia, Epistaxis, Abnormality of the spleen, Testicular mass, Abnormality of t... ORPHA:548
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... OMIM:610185
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, C... OMIM:619375
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Posteriorly rotated ears, Cryptorchidi... OMIM:618958
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Ir... ORPHA:449291
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Vaginal neoplasm, Pelvic mass, Reduced C-peptide le... ORPHA:2126
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Steppage gait OMIM:618387
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Premature ovarian insufficiency, Sma... ORPHA:221008
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Large for gestationa... ORPHA:137634
Steinert Myotonic Dystrophy
Tented upper lip vermilion, Prolonged QRS complex, Decreased response to growth hormone stimulati... ORPHA:273
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Cryptorchidism, Cleft palate, Furrowed tongue, Downturned corners of... ORPHA:453499
Alexander Disease
Diabetes mellitus, Facial palsy, Sudden cardiac death, Bowel incontinence, Precocious puberty, Hy... ORPHA:58
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... OMIM:615816
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Eosinophilic infiltration of the esop... OMIM:243700
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity OMIM:618878
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pericarditis, Hemolytic anemi... ORPHA:809
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... OMIM:183090
Spinocerebellar Ataxia, Autosomal Recessive 23
Ataxia, Neutropenia OMIM:616949
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Dementi... ORPHA:75567
Mirage Syndrome
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Microphallus, A... OMIM:617053
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Poikilo... OMIM:615234
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis... ORPHA:199299
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Decreased circulating parathyroid hormone level, Abnormal circulating calciu... OMIM:241530
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypsarrhythmia, Hy... ORPHA:13
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Behr Syndrome
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait disturbance, Progressive... OMIM:210000
Young-Onset Parkinson Disease
Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, Abnormal autonomic nervous s... ORPHA:2828
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry... ORPHA:96191
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Osteoporosis, Pseudohypoparathyroidism, Obesity OMIM:612463
Dopamine Beta-Hydroxylase Deficiency
Retrograde ejaculation ORPHA:230
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Biliary atresia, Proportionate tall stature, Vesicoureteral ... ORPHA:96149
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Abnormal temper t... ORPHA:163681
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Bradyk... OMIM:109150
Aspartylglucosaminuria
Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Abnormality of the dentition, Carious teet... ORPHA:93
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Arrhythmia, Abnor... ORPHA:3191
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... OMIM:600785
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Laurence-Moon Syndrome
Pigmentary retinopathy, Micropenis, Small scrotum, Obesity OMIM:245800
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Hypercalcemia, Progressive psychomotor deterioration, Obesity,... ORPHA:251004
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Clonus, Dysmetria, Gait ataxia, Glucose intolerance, Decreased a... OMIM:606721
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Cognitive impairment, Increased bl... OMIM:235400
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects
Restlessness, Self-mutilation, Dysphagia, Aggressive behavior OMIM:615075
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di... OMIM:302800
Patent Ductus Venosus
Congenital portosystemic venous shunt, Hyperammonemia, Hypergalactosemia, Decreased liver functio... OMIM:601466
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Dentinogene... ORPHA:166277
Limb-Mammary Syndrome
Cleft hard palate, Aplasia of the ovary, Bifid uvula, Alopecia, Psoriasiform dermatitis, Chronic ... ORPHA:69085
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s... OMIM:613101
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Bardet-Biedl Syndrome 17
Bone spicule pigmentation of the retina, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Ob... OMIM:615994
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... OMIM:261680
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Hypospadias, Optic nerve hypoplasia, Sparse eyebrow, Cryptorchidism, Hypoplastic l... ORPHA:495875
Noonan Syndrome 5
Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, Wide mouth, Thi... OMIM:611553
Aceruloplasminemia
Refractory anemia, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary mo... ORPHA:48818
Pyle Disease
Limited elbow extension, Thin bony cortex, Reduced bone mineral density OMIM:265900
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Bradycardia,... OMIM:608800
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Nephropathy, Achalasia, Abnormality of t... ORPHA:1018
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... ORPHA:98907
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... ORPHA:1170
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Dementia, ... ORPHA:101096
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... ORPHA:1606
Koolen-De Vries Syndrome
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormal dental enamel morphology, A... ORPHA:96169
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Myocarditis, Jaundice, Diarrhea, He... ORPHA:549
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Inguinal hernia, Pancytopenia, Hypospadias, Eczema, Petechiae, Hyperpigmented/hypopig... OMIM:620331
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... OMIM:616050
Acromegaly
Dysmenorrhea, Osteoarthritis, Wide penis, Synophrys, Hyperhidrosis, Widely spaced teeth, Pituitar... ORPHA:963
Fanconi Anemia
Abnormality of skin pigmentation, Leukopenia, Abnormality of the liver, High palate, Abnormality ... ORPHA:84
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Inclusion Body Myositis
Autoimmunity ORPHA:611
Cryptococcosis
Osteomyelitis, Lymphoid leukemia, Peritonitis, Osteolysis, Cirrhosis, Prostatitis ORPHA:1546
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Noonan Syndrome 4
Abnormal bleeding, Ureteral duplication, Curly hair, Large for gestational age, Sparse eyebrow, C... OMIM:610733
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... ORPHA:99901
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, External genital hypoplasia, Decreased response to growth hormone ... ORPHA:177907
Dyskeratosis Congenita, Digenic
Decreased testicular size, Decreased circulating IgG level, Alopecia, Sparse eyelashes, Abnormali... OMIM:620040
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Dysmetria, Gait ataxia, Chore... ORPHA:101
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Oral ulcer, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Al... ORPHA:50918
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Cleft soft palate, Intestinal malrotation, Optic nerve hypoplasia, Leukocytosis, Flexio... OMIM:619321
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Self-mutilation, Impulsivity, Aggressive behavior OMIM:604317
Hand-Foot-Genital Syndrome
Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel... OMIM:140000
Omodysplasia 2
Dyspareunia, Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cryptorchidism, Uterus... OMIM:164745
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:212138
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Large... ORPHA:49041
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... ORPHA:1414
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Obesity, Heart murm... OMIM:618653
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Pagod Syndrome
Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Sudden cardiac death,... ORPHA:991
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Clonus, Decreased nerve conduction velocity, Poor coordination, Abnormal pyramidal ... OMIM:238970
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, H... OMIM:105200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden... OMIM:201475
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Cleft palate, Horseshoe kidney, Aplasia of the uterus, Axial malrotati... ORPHA:3320
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Overweight, Cryptorchidism, Delayed puberty, Mildly el... ORPHA:486815
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Hypoplasia of the ovary, Osteosclerosis of the base of the skull, P... OMIM:609993
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Sple... ORPHA:79301
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thin upper lip vermilion, Thyroid lymphangiectasia, Cryptorchidism... OMIM:235255
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, T... OMIM:274000
Arthrogryposis, Distal, Type 2A
Hip contracture, Inguinal hernia, Flexion contracture of finger, Small for gestational age, Shoul... OMIM:193700
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Developmental And Epileptic Encephalopathy 36
Self-mutilation OMIM:300884
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Sple... ORPHA:90041
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... OMIM:610163
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Decreased nerve conduction velocity, Fu... ORPHA:2928
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Tetraplegia, Hand tremor, Gait disturbance, Fasciculations, Hyperglycemia OMIM:604484
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... ORPHA:90065
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... OMIM:617101
Hepatoportal Sclerosis
Elevated hepatic transaminase, Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertensio... ORPHA:64743
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... OMIM:600081
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hy... OMIM:277900
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Splen... ORPHA:163746
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Anterior open-bite malocclusion, Abnormal autonomic nervous sy... ORPHA:83601
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... ORPHA:567546
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Tachycardia, Hyperhidrosis, Pigmentary retinopathy, Focal T2 hyperintense thal... ORPHA:79264
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst OMIM:617100
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Confusion, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatospleno... ORPHA:3260
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Fanconi Anemia, Complementation Group A
Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Sma... OMIM:227650
Neurodevelopmental Disorder With Involuntary Movements
Athetosis, Self-injurious behavior, Dysphagia OMIM:617493
Zimmermann-Laband Syndrome
Facial hypertrichosis, Hepatomegaly, Generalized hyperpigmentation, Abnormal external genitalia, ... ORPHA:3473
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Bradykinesia, Hypertonia, Parkinsonism, Limb hypertonia OMIM:617384
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit... ORPHA:1310
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Bradykinesia, Inappropriate behavior, Parkinsonism ORPHA:412066
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... ORPHA:99027
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, Chorea, Clumsiness, Choreoathe... OMIM:615673
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Cowden Syndrome
Hamartomatous polyposis, High palate, Abnormality of the uterus, Abnormal penis morphology, Endom... ORPHA:201
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Noonan Syndrome 8
Curly hair, Eczema, Large for gestational age, Cryptorchidism, Patent ductus arteriosus, Mitral r... OMIM:615355
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Cirrhosis, Nail dystrop... OMIM:613987
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:617093
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Thin upper lip vermilion, Small scrotum, Hypospadias, Small for ... OMIM:607143
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... ORPHA:101330
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of... ORPHA:289494
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Hypermelanotic macule, Leukocytosis, Vasc... ORPHA:32960
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hyperte... OMIM:161950
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Splenomegal... ORPHA:251066
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... OMIM:168000
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Kabuki Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Orofacial cleft, High palate, Widely spaced... ORPHA:2322
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor ORPHA:713
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Ataxia, Increase... OMIM:603553
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, Irritability, N... OMIM:275350
Porphyria, Congenital Erythropoietic
Osteopenia, Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Osteolysis, Corneal scarring,... OMIM:263700
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Anti-thyroid peroxidase antibody positivity, Hyperhidrosis, I... ORPHA:525731
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting, Hepatic steatosis, Bi... OMIM:614921
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Premature ovarian insufficiency, Abnormality of the thyroid gland, Cardiomyopa... OMIM:609286
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Dysphagia, Memory im... ORPHA:247234
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Hyperlipidemia, ... ORPHA:444490
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Increased bone mineral density, Inguinal hernia, Hypospadias, External... ORPHA:2658
Treacher Collins Syndrome 1
Sparse lower eyelashes, Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal par... OMIM:154500
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Diarrhea, Hematuria, Mi... ORPHA:54057
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... OMIM:219080
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... ORPHA:228402
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Unsteady gait, Slurred speech, Babinski sign, Clumsiness, Poor fine motor... ORPHA:137898
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Normochromic ane... OMIM:245900
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Malabso... ORPHA:47
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... ORPHA:275761
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... OMIM:615873
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Intestinal malrotation, Submucous cleft hard palate, Heart murmu... ORPHA:3426
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Camptodactyly of finger, Intestinal malrotation, Asplenia, ... ORPHA:99776
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Hepatic steatosis, Multicystic kidney dysplasia, Diabetes mellitus... ORPHA:93111
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim... ORPHA:740
Kapur-Toriello Syndrome
Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Cryptorchidism, Patent ductus a... OMIM:244300
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Bruxism, Choreoathetosis, Dysphagia, Self-mutilation OMIM:619422
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Myoclonus, Dysph... OMIM:254900
Somatomammotropinoma
Dysmenorrhea, Osteoarthritis, Synophrys, Hyperhidrosis, Widely spaced teeth, Pituitary prolactin ... ORPHA:314769
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Sneddon Syndrome
Mental deterioration, Lymphopenia, Tremor, Hemiplegia OMIM:182410
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Paget Disease Of Bone 3
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... OMIM:167250
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Ciliary Dyskinesia, Primary, 37
Female infertility, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter OMIM:617577
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Tachycardia, Hyperhidrosis, Chemodectoma, Glomus jugular tumor, Ad... OMIM:605373
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Apht... OMIM:249100
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Cryptorchidism, Elevated circulating creatinine concentration, C... OMIM:608104
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... OMIM:618877
Gm1 Gangliosidosis
Gastroesophageal reflux, Aspiration pneumonia, Infectious encephalitis, Generalized hirsutism, Pa... ORPHA:354
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ... ORPHA:276621
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... ORPHA:183
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Micropenis, ... OMIM:614880
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... ORPHA:746
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Ataxia, Depression, Self-injurious behavior, Cognitive impairment OMIM:601853
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Isolated Atp Synthase Deficiency
Hepatomegaly, Ataxia, Sensorineural hearing impairment, Dilated cardiomyopathy, Spastic paraplegi... ORPHA:254913
Opitz Gbbb Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, High palate, Vesicoureteral reflux, Recurrent asp... ORPHA:2745
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... OMIM:251880
Neurodevelopmental Disorder With Dystonia And Seizures
Athetosis, Self-injurious behavior OMIM:619922
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Lower limb spasticity OMIM:615119
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Episcleritis, Renal insufficiency, Glomerulopathy, Proteinuria, Skin... ORPHA:761
Autosomal Recessive Spastic Paraplegia Type 26
Abnormality of the urinary system, Decreased serum testosterone concentration, Premature ovarian ... ORPHA:101006
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Truncal obe... OMIM:615812
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Atypical Hemolytic Uremic Syndrome
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... ORPHA:2134
Familial Thrombocytosis
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly ORPHA:71493
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Abnormal cardiac ventricular func... ORPHA:2394
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Small for gestational age, Highly arched eyebrow, Cleft upper lip,... OMIM:194190
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... ORPHA:369837
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Persistence of primary teeth, Vas... ORPHA:375
Intellectual Developmental Disorder, Autosomal Recessive 76
Self-injurious behavior OMIM:619931
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Psoriasiform dermati... ORPHA:2237
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Malabsorpt... ORPHA:85445
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II diab... ORPHA:401923
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior ORPHA:444002
Angelman Syndrome
Optic disc pallor, Precocious puberty in females, Protruding tongue, Optic atrophy, Obesity, Dysp... ORPHA:72
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon... OMIM:256550
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Abnormal bleed... ORPHA:355
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Irregular menstruation, Obesity OMIM:615986
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Proteinuria, Pancytopenia, An... ORPHA:35858
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Hypochromic anemia, Thrombocytosis, Spasticity OMIM:618213
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Testicular atrophy, Intestinal malrotation, Congenital diaphragmatic hernia OMIM:601163
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Patent ductus arteriosus, Hypopigmented skin patches, Multiple cafe-au-lait s... ORPHA:2637
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... OMIM:619846
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Wild Type Attr Amyloidosis
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Bowel incont... ORPHA:330001
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Intrahepatic cholestasis, Mild proteinuria OMIM:619685
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Meckel Syndrome 14
Tricuspid regurgitation, Mitral regurgitation, Hepatic fibrosis, Polycystic kidney dysplasia, Apl... OMIM:619879
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Confusion, Increased blood urea nitrogen OMIM:274150
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased HDL cholesterol concentration, Abnormal bleeding, Hepatomegaly, Autoimmune ... ORPHA:77293
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Aortic regurgitation, Pancytopenia, Abnormal circulating enzyme concent... ORPHA:309282
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Elevated hemoglobin A1c OMIM:618858
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ... ORPHA:890
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Lipodystrophy, Sp... OMIM:617591
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Tarsal synostosis, Osteolysis ORPHA:1657
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Flexion contracture, Bone cyst, Osteolysis, Hypogonadi... ORPHA:3042
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... OMIM:232400
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Weight loss, Palpitations, Goiter OMIM:188580
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... ORPHA:79318
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Bowel incontinence, Elevated uri... ORPHA:3299
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Esophageal atresia, Renal hypoplasia, Tracheoesophageal fistula, Cleft... OMIM:614083
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity OMIM:609529
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Bundle branch block, Congenital diaphragmatic hernia, ... ORPHA:373
Aymé-Gripp Syndrome
Thin upper lip vermilion, Inguinal hernia, Pericarditis, Proteinuria, Sparse scalp hair, Congenit... ORPHA:1272
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Rapp-Hodgkin Syndrome
Conical tooth, Sparse hair, Microdontia, Bifid uvula, Hypospadias, Cleft upper lip, Sparse eyebro... OMIM:129400
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio... OMIM:619991
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Precocious puberty, Cryp... OMIM:616682
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Omphalocele, Renal hypoplasia/aplasia, Cryptorch... ORPHA:1756
15Q11.2 Microdeletion Syndrome
Short attention span, Ataxia, Self-injurious behavior, Attention deficit hyperactivity disorder, ... ORPHA:261183
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Spastic parapare... ORPHA:289560
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Zygomycosis
Gastrointestinal hemorrhage, Brain abscess, Fasciitis, Diabetes mellitus, Pericarditis, Epistaxis... ORPHA:73263
Dubowitz Syndrome
Aplastic anemia, High palate, Gastroesophageal reflux, Otitis media, Decreased circulating IgG le... OMIM:223370
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Ureteral stenosis, Hypopigmentation of hair, Cryptorchidism, Ocular albinism, Ab... ORPHA:2719
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... ORPHA:358
S-Adenosylhomocysteine Hydrolase Deficiency
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... ORPHA:88618
Adrenomyodystrophy
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency, Reduced bone mineral density ORPHA:977
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait... OMIM:311510
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Hereditary Pheochromocytoma-Paraganglioma
Episodic hyperhidrosis, Cranial nerve compression, Adrenal pheochromocytoma, Positive regitine bl... ORPHA:29072
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Skin rash, Autoimmu... ORPHA:36412
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate... ORPHA:2879
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking ORPHA:477673
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Autoimmunity, Hyperhidrosis, Hypertension, Anemia, Vitiligo OMIM:184850
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Advanced ossification of carpal bones, Obesity, Truncal obesity... OMIM:618363
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Dental crowding, Cryptorchidism, Synophrys, Obesity, Narrow palate, Thi... OMIM:616078
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa... ORPHA:139411
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Con... ORPHA:90033
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Small for gestational ... OMIM:609152
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo... ORPHA:3411
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abn... ORPHA:3032
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... OMIM:619518
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Muir-Torre Syndrome
Endometrial carcinoma, Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm... ORPHA:587
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Tachycardia, Small for gestational age, Cardiac shunt, Maternal diabetes, Cardiomeg... ORPHA:860
Summitt Syndrome
Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity ORPHA:3210
Bardet-Biedl Syndrome 12
Hydroureter, Abdominal mass, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hydronephrosis, H... OMIM:615989
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia, Limb hypertonia OMIM:615918
Caspase 8 Deficiency
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:607271
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Vaginal neoplasm, Osteolysis, Acute lymphobla... ORPHA:1052
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreas... OMIM:619824
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Infantile Sialic Acid Storage Disease
Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphoc... OMIM:269920
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... OMIM:619489
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Hypertriglyceridemia OMIM:620282
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormality of cervical... ORPHA:449427
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Abnormal pyramidal sign, Renal cyst, Opisthoton... ORPHA:445038
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... OMIM:613496
Deeah Syndrome
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... OMIM:619004
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hypertension... OMIM:193300
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Sporadic Infantile Bilateral Striatal Necrosis
Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Dysphagia, Gait ataxia... ORPHA:225147
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing imp... OMIM:125250
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Tachycardia, Increased circulating interleukin 6 concentration, ... ORPHA:542323
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Diabetes mellitus, ST segment elevation, Ventricular tachycardia,... ORPHA:263297
Pure Autonomic Failure
Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Impotence, Abnormality of cir... ORPHA:441
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Increased circulating lactate dehydrogenase concentration, Hypercholesterolemi... OMIM:309000
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Celiac disease, A... OMIM:615952
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystonia, Loss of ambulatio... OMIM:607694
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Hernández-Aguirre Negrete Syndrome
Obesity, Delayed puberty ORPHA:2139
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... OMIM:615630
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S... OMIM:301050
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp... ORPHA:79445
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Glucagonoma
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... ORPHA:97280
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Abnormality of the menstrual cycle, Osteoarthritis, Limitation of joint mobility... ORPHA:285
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... OMIM:617241
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Self-injurious behavior, Agitation OMIM:618339
Neutropenia, Chronic Familial
Gingivitis, Increased circulating antibody level, Periodontitis, Neutropenia, Premature loss of t... OMIM:162700
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Sensorineural hearing impairment, Optic atrophy, Spa... OMIM:618329
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat... ORPHA:368
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Hepatic fibrosis, Intractable diarrhea, Sparse hair, Bifid uvula, ... OMIM:222470
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low posterior hairline, ... OMIM:300860
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Inguinal her... ORPHA:325345
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar... OMIM:615558
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ... OMIM:613179
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... OMIM:261515
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Sensorineural hearing impairm... OMIM:615438
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Abnormal dental enamel morphology, Supernume... ORPHA:464
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes OMIM:610582
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Secondary Non-Traumatic Avascular Necrosis
Abnormality of connective tissue, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Proteinuria, Rheumatoid factor positive, Autoimmunity, Anti... ORPHA:90060
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Flexion contracture, Optic atrophy, Low anterior hairline, Hypopla... OMIM:614225
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Pancreati... OMIM:232220
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... ORPHA:90291
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Bruising suscepti... ORPHA:721
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Eosinophilic Gastroenteritis
Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea ORPHA:2070
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Congenital foot contractu... ORPHA:565624
Activated Pi3K-Delta Syndrome
Autoimmunity, Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, B lymphocytopenia, Abnormal int... ORPHA:397596
Oxoglutaric Aciduria
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration ORPHA:31
Trisomy X
Tremor, Attention deficit hyperactivity disorder, Cognitive impairment, Depression ORPHA:3375
Linear Iga Dermatosis
Inflammation of the large intestine, Autoimmunity, Oral ulcer ORPHA:46488
Chromomycosis
Atypical scarring of skin, Ankylosis, Osteolysis ORPHA:182
Perry Syndrome
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function ORPHA:178509
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Small for gestat... ORPHA:26793
11P15.4 Microduplication Syndrome
Highly arched eyebrow, Synophrys, Obesity, Increased overbite, Long philtrum, Smooth philtrum ORPHA:300305
3-Methylglutaconic Aciduria, Type Viib
Dystonia, Ataxia, Neonatal hypoglycemia, Tremor, Opisthotonus, Choreoathetosis, Leukopenia, Hyper... OMIM:616271
Timothy Syndrome
Prolonged QT interval, Thin upper lip vermilion, Pneumonia, Cardiomegaly, Patent ductus arteriosu... OMIM:601005
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Pr... ORPHA:96182
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... OMIM:606324
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Hypothyroidism, Alopecia universalis, Hemolytic anemia, Psori... OMIM:606367
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attention deficit hyperac... OMIM:300986
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Limb ataxia, Gait ataxia, Spastic dysarthria, Bradykinesia, Impotence, Spasticity ORPHA:98760
Scorpion Envenomation
Bundle branch block, Hyperhidrosis, Vomiting, Prominent U wave, Priapism, Ketonuria, ST segment d... ORPHA:466677
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Autoimmunity, Abnormal oral cav... ORPHA:704
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping OMIM:617268
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic fibrosis, Hypochole... ORPHA:14
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Thin upper lip vermilion, Proteinuria, Glomerulonephritis, Supernu... OMIM:614376
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4... ORPHA:449400
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90037
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Hypospadias, Supernumerary nipple, Abnormality of the dentition, Truncal obesity ORPHA:3224
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Hypertension, Impotence, Ab... ORPHA:93256
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... OMIM:600430
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility OMIM:266265
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Small for gestational age, Abnormal ... ORPHA:221016
Distal Xq28 Microduplication Syndrome
Impulsivity, Aggressive behavior, Self-biting, Depression, Tip-toe gait, Stereotypical body rocki... ORPHA:293939
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Elevated circulatin... ORPHA:97287
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Abnormal vagina morphology, Hypercalcemia, Ascites ORPHA:2123
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c OMIM:606176
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ... ORPHA:454840
Kleefstra Syndrome 2
Self-injurious behavior OMIM:617768
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Abnormal bleeding, Metrorrhagia, Elevated carcinoma antigen 125 level, ... ORPHA:370348
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Anti-NMDA receptor antibody positivity, Orthostatic ta... ORPHA:217253
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment ORPHA:820
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Camptodactyly of finger, Cryptorchidism, Congestive heart failure, Fle... ORPHA:1194
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Acute Promyelocytic Leukemia
Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, Leukocytosis, Gingival overgrowth, Lympha... ORPHA:520
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Decreased urinary po... ORPHA:95409
Donnai-Barrow Syndrome
Omphalocele, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Non-acidotic p... OMIM:222448
Naxos Disease
Sparse scalp hair, Curly hair, Sudden cardiac death, Cleft upper lip, Abnormality of hair texture... ORPHA:34217
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep... ORPHA:37042
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Elevated hepatic transaminase, Hepatomegaly, Abnormal mitochondrial shape... ORPHA:17
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder OMIM:619556
Vipoma
Secretory diarrhea, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochez... ORPHA:97282
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... ORPHA:45452
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Anhidrosis, Palmoplantar hyperhidrosis, Osteolysis ORPHA:659
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Primary Ciliary Dyskinesia
Male infertility, Intestinal malrotation, Female infertility, Asplenia, Bronchiectasis, Chronic s... ORPHA:244
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Downturne... ORPHA:444077
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment OMIM:607876
Familial Multiple Lipomatosis
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth ORPHA:199276
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex ORPHA:75508
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... OMIM:609981
Alkaptonuria
Myocardial infarction, Osteoarthritis, Nephrolithiasis, Abnormality of skin pigmentation, Hyperte... ORPHA:56
Familial Dysautonomia
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Recurrent fra... ORPHA:1764
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Precocious puberty, Cleft lip, Synophrys, Obesity, Cleft palate, Hepatosplenomegaly... OMIM:301066
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Ataxia, Gait disturbance ORPHA:99014
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Prominent U wave, Abnorma... ORPHA:37553
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive-compulsive trait, Gait dis... ORPHA:544254
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glo... ORPHA:91138
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity, Joint hypermobility ORPHA:480907
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Reduced bone mineral density, Right bund... OMIM:619322
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Mechanical ileus, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Midgut... ORPHA:100079
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Gastroesophageal reflux, Otitis media, Vesicoureteral reflux, Hypospadias, Crypt... ORPHA:353281
Occipital Horn Syndrome
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Jaundice, Ost... ORPHA:198
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, System... ORPHA:90036
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Sotos Syndrome
Abnormality of the kidney, Sparse eyebrow, Cryptorchidism, High, narrow palate, Patent ductus art... OMIM:117550
Waardenburg Syndrome
Abnormal eyebrow morphology, Intestinal obstruction, Hypopigmentation of hair, Aplasia/Hypoplasia... ORPHA:3440
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, N... OMIM:607594
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Diarrhea, Cardiomyopathy, Impotence, Constipation, Abnormal a... OMIM:105210
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Thin bony cortex, Recurrent fractures, Cryptorchidism, O... OMIM:309583
Cohen Syndrome
Bone spicule pigmentation of the retina, Small for gestational age, Decreased response to growth ... OMIM:216550
Parkinson Disease 23, Autosomal Recessive Early-Onset
Mental deterioration, Dementia, Akinesia OMIM:616840
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Oral ulcer, Infectious encephalitis, Glomeru... ORPHA:117
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... OMIM:616881
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Subcutaneous hemorrhage, Macrothrombocytopenia, Aminoaciduria,... OMIM:603585
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Tricuspid regurgit... OMIM:619127
Rothmund-Thomson Syndrome
Osteopenia, Calcinosis, Abnormal trabecular bone morphology, Small for gestational age, Abnormal ... ORPHA:2909
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Osteomalacia, Elevated circulati... OMIM:227810
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Depression, ... ORPHA:845
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Cigarette-paper scars, Liver abscess, Osteolysis ORPHA:678
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bleeding, Decreased circulat... ORPHA:79329
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro... OMIM:214500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin... OMIM:620210
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Optic atrophy, Reduced sperm motility OMIM:602271
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Synophrys, Obesity, Congenital hypothyroidism, Downturned corners of mo... ORPHA:352530
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Cardiac arrest, Eosinophilia, Enanthema, Myocarditis, Pustule, Th... ORPHA:139402
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Absence of subcutane... OMIM:610965
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures ORPHA:1486
Syndromic Diarrhea
Villous atrophy, Brittle hair, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of ... ORPHA:84064
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Deep philt... OMIM:613563
Brachydactylous Dwarfism, Mseleni Type
Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth... ORPHA:2619
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Microscopic... ORPHA:77297
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Diarr... OMIM:240500
Nephronophthisis 15
Elevated hepatic transaminase, Obesity OMIM:614845
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Hepatomegaly, Cryptorchidism, Spasticity, Cystic renal dysplasia OMIM:613730
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Renal cyst, Vomiting, Gastroesophageal reflux, Mic... OMIM:270400
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Anemia ORPHA:2668
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosida... OMIM:230600
Cockayne Syndrome Type 2
Hepatomegaly, Lower limb spasticity, Ataxia, Scarring, Hearing impairment, Cryptorchidism, Flexio... ORPHA:90322
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Incr... ORPHA:37748
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Vasculitis, Osteolysis, Synoviti... ORPHA:793
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Abnormal pinna morphology, Jaundice, Renal cortical cysts, Polycystic... OMIM:231680
Multiple System Atrophy 1, Susceptibility To
Anhidrosis, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Hypoh... OMIM:146500
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms ORPHA:391307
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... OMIM:613237
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Bilateral cryptorchidism, High, narrow palate, Flexion cont... OMIM:180849
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... ORPHA:94086
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Cornelia De Lange Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, Downturne... ORPHA:199
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... ORPHA:1215
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal cyst, Cardiomyopathy, Decreased liver function, Tongue fasciculations, Myoclo... OMIM:614922
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension OMIM:607832
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Microtriplication 11Q24.1
Hyperlipidemia, Limitation of joint mobility, Obesity ORPHA:289522
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Hyperhidrosis, Ph... ORPHA:1332
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Delayed pubic bone ossification, Diabetes mellitus, Increased circulating a... ORPHA:2976
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Tonne-Kalscheuer Syndrome
Self-injurious behavior, Broad-based gait, Dysphagia, Aggressive behavior OMIM:300978
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Diabetes mellitus, Confusion, Leukocytosis, Leukopenia, Addictive alcohol use, Leth... ORPHA:36238
Lig4 Syndrome
Pancytopenia, Small for gestational age, Cryptorchidism, Telangiectasia, Acute lymphoblastic leuk... OMIM:606593
Supranuclear Palsy, Progressive, 2
Akinesia, Irritability, Falls, Gait imbalance, Dysphagia, Memory impairment, Frontolimbic dementia OMIM:609454
Liver Failure, Infantile, Transient
Irritability, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Spinocerebellar Ataxia Type 13
Optic disc pallor, Torticollis, Optic atrophy, Limb ataxia, Titubation, Clumsiness, Gait ataxia, ... ORPHA:98768
Congenital Erythropoietic Porphyria
Osteopenia, Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increas... ORPHA:79277
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Prolidase Deficiency
Hepatomegaly, Petechiae, Eczema, Hyperimidodipeptiduria, Splenomegaly, Thrombocytopenia, Recurren... OMIM:170100
Zimmermann-Laband Syndrome 1
Synophrys, Low anterior hairline, Downturned corners of mouth, High palate, Short philtrum, Gastr... OMIM:135500
Hepatoerythropoietic Porphyria
Osteopenia, Abnormal bleeding, Hemolytic anemia, Abnormal circulating enzyme concentration or act... ORPHA:95159
Immunodeficiency 7
Chronic oral candidiasis, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Diarrhea, Hype... OMIM:615387
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Hypospadias, Small for gestational age, Supernumerary nipple, Narrow mouth, Low anterior hairline... OMIM:604314
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Thin upper lip vermilion, Small scrotum, Lip pit, Cryptorchidism, Non-midline clef... ORPHA:1300
Mend Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholest... ORPHA:401973
Postencephalitic Parkinsonism
Depression, Abnormal aggressive, impulsive or violent behavior, Akinesia, Dysphagia ORPHA:97349
Weismann-Netter Syndrome
Abnormality of the thyroid gland, Abnormal cortical bone morphology, Anemia ORPHA:3344
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Acquired Methemoglobinemia
Tachycardia, Syncope, Vomiting, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal bleeding, Small for gestational age... OMIM:208085
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Ol... ORPHA:91351
Refractory Celiac Disease
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antimitochondrial antibody positivity, Antinuc... ORPHA:562639
Immunodeficiency 61
Decreased circulating IgG4 level, Malabsorption, Obesity, Agammaglobulinemia, Arthritis, Decrease... OMIM:300310
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Autoimmunity, Chronic hepatitis due to cryp... ORPHA:572
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Broad-based gait, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absen... OMIM:619705
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Sensorineural hearing impairment, Cholestasis, ... ORPHA:541423
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Pulmonary carcinoid tumor, Abnormal ... ORPHA:363618
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Abnormal repetitive mannerisms OMIM:619092
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Ctcf-Related Neurodevelopmental Disorder
Synophrys, Short philtrum, Joint contracture of the 5th finger, Gastroesophageal reflux, Microdon... ORPHA:363611
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, High palate, Gastroesophageal reflux... ORPHA:2059
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting OMIM:618973
Multiple Endocrine Neoplasia Type 2
Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromato... ORPHA:653
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... OMIM:102700
Rafiq Syndrome
Joint laxity, Flexion contracture, Obesity, Truncal obesity, Joint hypermobility OMIM:614202
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm... ORPHA:320401
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Gapo Syndrome
Dysmenorrhea, Hearing impairment, Optic atrophy, Oligozoospermia, Hypogonadism, Low-set ears, Umb... ORPHA:2067
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Cholangitis, Hypersplenism, Hypothyroidism, Anti-thyroid peroxidase a... ORPHA:228426
Agel Amyloidosis
Tongue atrophy, Proteinuria, Facial palsy, Xerostomia, Stage 5 chronic kidney disease, Cardiomyop... ORPHA:85448
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia, Decreased ... ORPHA:1667
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Autoimmunity ORPHA:163703
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Bowel incontinence, Impotence, Pseudobulbar paralysis, Decreased sweating due to autonomic dysfun... OMIM:169500
Acute Intermittent Porphyria
Dark urine, Renal insufficiency, Tachycardia, Dysuria, Urinary incontinence, Diarrhea, Ileus, Por... ORPHA:79276
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Micropenis, Obesity, B... OMIM:181450
Pseudo-Torch Syndrome 3
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Acute ... OMIM:618886
Ppoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97278
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Myhre Syndrome
Thin upper lip vermilion, Small for gestational age, Cryptorchidism, Cleft lip, Narrow mouth, Pat... OMIM:139210
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... OMIM:166300
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella OMIM:620197
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Lesch-Nyhan Syndrome
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Vomiting, Dysphagia, Te... OMIM:300322
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Thrombocytopenia, Osteo... ORPHA:77261
Caribbean Parkinsonism
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... ORPHA:97355
Pallister-Killian Syndrome
Small scrotum, Tented upper lip vermilion, Congenital diaphragmatic hernia, Flexion contracture, ... OMIM:601803
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Large... OMIM:229850
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regene... ORPHA:247691
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Neutropenia, Hypothyroidism, Alopecia, Autoimmune thrombocytopenia, Chronic diar... OMIM:304790
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Hoffmann... ORPHA:206448
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... ORPHA:48
Trisomy 10P
Absent gallbladder, Small for gestational age, Poor motor coordination, Abnormal auditory evoked ... ORPHA:171929
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Decreased circulating progesterone, Optic atrophy, Primary ameno... OMIM:603896
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Abnormal ly... ORPHA:911
Adnp Syndrome
Thin upper lip vermilion, Inguinal hernia, Sparse scalp hair, Recurrent urinary tract infections,... ORPHA:404448
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Fair hair, Small for gestational age, Eczema, Cleft upper lip... OMIM:610443
Meier-Gorlin Syndrome 6
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... OMIM:616835
Meckel Syndrome, Type 1
External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous genitalia, female, Lobulated... OMIM:249000
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity ORPHA:98827
Bachmann-Bupp Syndrome
Lower limb spasticity, Hypoglycemia, Large for gestational age, Focal polymicrogyria, Cryptorchid... OMIM:619075
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
High Altitude Pulmonary Edema
Leukocytosis, Tachycardia ORPHA:330012
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Infantile Refsum Disease
Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Facial palsy, Sensorineural hearin... ORPHA:772
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Abnormality of the menstrual ... ORPHA:90308
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Joint hyperflexibility, Hypercholesterolemia, Hypothyroidism ORPHA:2479
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis, Chorea, Multifocal epileptiform discharges, Hyperammonemia, Opi... OMIM:616672
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Hemiplegia/hemip... ORPHA:156
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Optic nerve hypoplasia, Unilateral renal agenesis, Abnormal hair whorl, Aplasia ... ORPHA:457284
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Abnormality of skin pigmen... ORPHA:834
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Neuhauser Syndrome
Osteopenia, Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,... ORPHA:329478
Immunodeficiency With Hyper-Igm, Type 1
Oral ulcer, Gingivitis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, ... OMIM:308230
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Nelson Syndrome
Increased urinary cortisol level, Generalized hyperpigmentation, Testicular neoplasm, Pituitary c... ORPHA:199244
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarcti... OMIM:603903
Camurati-Engelmann Disease
Delayed eruption of teeth, Hepatomegaly, Facial palsy, Cachexia, Carious teeth, Splenomegaly, Abn... ORPHA:1328
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... OMIM:613913
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Self-injurious behavior, Broad-based gait OMIM:618707
Melnick-Needles Syndrome
Omphalocele, Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hy... ORPHA:2484
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal ... ORPHA:646
Systemic Lupus Erythematosus
Lupus nephritis, Oral ulcer, Leukopenia, Decreased circulating complement C4 concentration, Seros... ORPHA:536
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnorma... ORPHA:79456
Immunodeficiency 44
Lymphopenia OMIM:616636
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Glomerulonephritis, Anti-acetylch... ORPHA:99867
Orofaciodigital Syndrome Type 1
Brittle hair, Lobulated tongue, Coarse hair, High palate, Chronic otitis media, Sparse hair, Mult... ORPHA:2750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... OMIM:616026
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Small for gestational age, Posteriorly rotated ears, Oligozoospermia, Clitoral... OMIM:614813
Floating-Harbor Syndrome
Glandular hypospadias, Nephrocalcinosis, Downturned corners of mouth, Short philtrum, Microdontia... OMIM:136140
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Natal tooth, Hypospadias, Optic atrophy, Gingival overgrowth, Narrow palate, Hypop... OMIM:123790
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis OMIM:201450
Mohr-Tranebjaerg Syndrome
Dystonia, Tremor, Dysphagia, Mental deterioration, Spasticity OMIM:304700
Marshall-Smith Syndrome
Irregular dentition, Brittle hair, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, G... OMIM:602535
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, True hermaphroditism, Nephrobla... OMIM:194080
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia OMIM:246400
Serotonin Syndrome
Tachycardia, Diarrhea, Hyperhidrosis, Hypertension, Hypotension, Abnormality of the autonomic ner... ORPHA:43116
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Hypoglycemia, Opisthotonus, Acute hepatic steatosis, Lethargy, Failure to t... OMIM:210200
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Immunodeficiency, Common Variable, 10
Trachyonychia, Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Al... OMIM:615577
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, High, nar... OMIM:613406
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... ORPHA:199351
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Abnormal atrioventricular valve physiology, Hepat... ORPHA:1329
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thrombocytopenia,... OMIM:613011
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Precocious puberty, Obesity, Type I diabetes mellitus, Dentinogenesis imperfecta OMIM:619269
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Nephrocalcinosis, Clitoral hypoplasia, Micropenis, R... OMIM:268310
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse pubic hair, Congesti... OMIM:181270
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... ORPHA:765
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... OMIM:174800
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Lipodystrophy, Bone cyst, Osteolysis, Multiple lipomas, Pulmonary arte... ORPHA:2396
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Spasticity, Hydrocele testis, Hypertrophic cardiomyopathy, Hypocholesterolemia, Mic... OMIM:618810
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Chorea, Abnormal circulating creatine kinase concent... ORPHA:369840
Peroxisome Biogenesis Disorder 3B
Abnormal bleeding, Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Sensorineural h... OMIM:266510
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of t... OMIM:271520
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Thick hair, Synophrys, Low posterior hairline, Wide mouth, Truncal obes... ORPHA:2429
Omenn Syndrome
Eosinophilia, Autoimmunity, Pneumonia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis,... ORPHA:39041
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Acquired Ichthyosis
Recurrent skin infections, Autoimmunity ORPHA:454
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Epispadias, Abnormality of the gingiva, High, narrow palate, Downturned corn... ORPHA:3107
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Mucoid diarrhea, Aphthous ulcer, Increased circulating IgE level... OMIM:615767
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Nephrolithiasis, Gingival overgrowth, Gingivitis, Periodontitis, Abno... ORPHA:722
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Nephrogenic diabetes insipi... ORPHA:213
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function, Atrial fib... ORPHA:439232
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Abnormal bl... OMIM:163950
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Flexion contracture, Depression, Atypical scarring of sk... ORPHA:89842
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hy... ORPHA:348
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Developmental And Epileptic Encephalopathy 64
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Lumbar Syndrome
Bifid scrotum, Hypospadias, Renal agenesis, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, ... ORPHA:83628
Osteootohepatoenteric Syndrome
Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Reduced bone mineral density,... OMIM:619377
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, External genital hypoplasia, Elevated circulating cr... ORPHA:329178
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Vasculitis, Optic a... ORPHA:575
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Oral ulcer, T lymphocytopenia, Colitis, V... OMIM:619381
White-Kernohan Syndrome
Thin upper lip vermilion, Hydroureter, Tented upper lip vermilion, Synophrys, Broad medial eyebro... OMIM:619426
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Dental enamel pits, Precocious puberty, Gingival fibromatosis, Re... OMIM:191100
Williams-Beuren Syndrome
Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Prematu... OMIM:194050
Clark-Baraitser Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Obesity, Downturned corners of mouth, Wide mou... OMIM:617752
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Autoimmunity, Autoimmune hypoparathyroidism, Auto... ORPHA:36913
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Gastritis, N... ORPHA:31826
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid... OMIM:603373
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate,... OMIM:309580
Acute Transverse Myelitis
Orthostatic hypotension, Gastroparesis, Urinary incontinence, Subarachnoid hemorrhage, Abscess, A... ORPHA:139417
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, ... ORPHA:98794
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Carpenter Syndrome 2
Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Knee flexion contracture, H... OMIM:614976
Overlap Myositis
Autoimmunity, Antinuclear antibody positivity, Systemic lupus erythematosus, Leukopenia, Arthriti... ORPHA:206572
Barber-Say Syndrome
Delayed eruption of teeth, Absent nipple, Lipodystrophy, Sparse eyelashes, Sparse eyebrow, Crypto... OMIM:209885
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Con... ORPHA:95455
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Steppage gait, Hypertonia, Myoclonus, Inte... OMIM:616505
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Elevated gamma-glutamyltransferase level, ... OMIM:619573
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria OMIM:618857
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Elevated circulating creatine kinase concentration, Claw hand deformity, Stage 5 chr... OMIM:614455
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b... OMIM:300009
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Dysph... ORPHA:572798
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Legius Syndrome
Inguinal freckling, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Axillary freckling, ... ORPHA:137605
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Hyperhidrosis OMIM:615548
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Thin upper lip vermilion, Failure to thrive in infancy, Decreased response... ORPHA:529962
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Mitochondrial Complex I Deficiency, Nuclear Type 37
Inguinal hernia, Hypospadias, High palate, Bradycardia, Pulmonary arterial hypertension, Failure ... OMIM:619272
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Abnor... ORPHA:167
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Chromosome 1P36 Deletion Syndrome, Distal
Ectopic kidney, Synophrys, Orofacial cleft, High palate, Gastroesophageal reflux, Hypothyroidism,... OMIM:607872
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Chromosome 16P13.3 Deletion Syndrome, Proximal
Abnormality of the kidney, Obesity, High palate, Polysplenia, Facial hypertrichosis, Failure to t... OMIM:610543
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, High palate, Gastroesophageal reflux, Otitis media, Vesicoureteral reflux, Hypos... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, High palate, Gastroesophageal reflux, Otitis media, Vesicoureteral reflux, Hypos... ORPHA:353277
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Optic atrophy, Decreased liv... ORPHA:436271
Immunoglobulin A Deficiency 1
Autoimmunity, Malabsorption OMIM:137100
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,... ORPHA:324
Q Fever
Rheumatoid factor positive, Abnormal left ventricular function, Abnormality of the liver, Cholecy... ORPHA:781
D-Glyceric Aciduria
Optic nerve hypoplasia, Patent ductus arteriosus, Aminoaciduria, Gastroesophageal reflux, Bradyca... OMIM:220120
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestiv... ORPHA:49827
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:331206
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hypoglycemic seizures, Hepatic necrosis, Decre... OMIM:231530
17Q11 Microdeletion Syndrome
Osteopenia, Telangiectasia of the skin, Precocious puberty, Osteoporosis, Osteolysis, Renovascula... ORPHA:97685
Aredyld Syndrome
Low-set, posteriorly rotated ears, Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, ... ORPHA:1133
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619707
2Q37 Microdeletion Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Eczema, Congenital diaphragmatic hernia, Supernu... ORPHA:1001
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Lower limb spasticity, Large for gestational age, Microvesicular h... OMIM:300868
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... OMIM:617156
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Sudden cardiac death, Leuko... ORPHA:764
Bardet-Biedl Syndrome 21
Overweight, Obesity, Elevated hepatic transaminase OMIM:617406
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Spastic tetraplegia, T ... OMIM:617237
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Fontaine Progeroid Syndrome
Small scrotum, High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Oli... OMIM:612289
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... OMIM:601104
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hyperactivity, Tics, Inappropriate laughter, Low frustration tolerance, Obsessive-compulsive trai... ORPHA:363686
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Self-injurious behavior, Irritability, Ataxia, Aggressive behavior OMIM:619833
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Chronic diarrhea, Bro... OMIM:618394
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, O... ORPHA:79480
Bartsocas-Papas Syndrome 1
Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Micropenis, Absent eyebrow, Alopec... OMIM:263650
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, Clitoral h... OMIM:180700
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... OMIM:261750
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Chronic... OMIM:614699
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Abnormality of the dent... OMIM:618282
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate... OMIM:115310
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... ORPHA:247353
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Curly hair, Inguinal hernia, Sparse scalp hair, Duplicated collecting syste... OMIM:607721
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Diarrhea, Protracted diarrhea, Anemia, Panniculitis, Chronic... OMIM:615758
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, High, narrow palate, Synophrys, Abnormality of skin pigmentation, Short philtrum, ... OMIM:619475
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Cryptorchidism, Neonatal epiphyseal stippling, Elevated circulating th... OMIM:101800
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Congenital Enterovirus Infection
Irritability, Hypoalbuminemia, Hyperammonemia ORPHA:292
Oculodentodigital Dysplasia
Hypoglycemia, Abnormal dental enamel morphology, Camptodactyly of finger, Cranial hyperostosis, H... ORPHA:2710
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Sialuria
Smooth philtrum, Hepatomegaly, Inguinal hernia, Thin upper lip vermilion, Splenomegaly, Synophrys... OMIM:269921
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Abnormal bleeding, Hypoglycemia, Hepatocellular carc... OMIM:232200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Hypoalbuminemia OMIM:617021
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Failure to thrive, Hypoalbuminemia ORPHA:367
Pauci-Immune Glomerulonephritis
Renal interstitial immunoglobulin deposits, Oral ulcer, Tubulointerstitial nephritis, Granulomato... ORPHA:93126
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysphagia, At... ORPHA:25
Rift Valley Fever
Abnormal bleeding, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepati... ORPHA:319251
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Prema... OMIM:192445
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft lip, Synophrys... OMIM:603457
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D... OMIM:614381
O'Sullivan-Mcleod Syndrome
Tremor, Eosinophilia, Fasciculations ORPHA:99965
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Elevated circulating creatine kinase concentration, Inflammation of the... OMIM:614576
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m... OMIM:301078
Fg Syndrome Type 1
Limited elbow extension and supination, Inguinal hernia, Progressive flexion contractures, Hyposp... ORPHA:93932
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Waddling gait, Aggressive behavior, Inability to walk, Inappropriate laughter, Emotional lability... ORPHA:457212
Benign Schwannoma
Intestinal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Abnormality of the ... ORPHA:252164
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Tachycardia, Elevated circulating creatine kinase concentration, Hypotension OMIM:145600
Leber Hereditary Optic Neuropathy
Arrhythmia, Optic atrophy, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Gitelman Syndrome
Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo... OMIM:263800
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Abnormal... ORPHA:171695
Adiposis Dolorosa
Telangiectasia of the skin, Recurrent skin infections, Autoimmunity, Sparse axillary hair, Sparse... ORPHA:36397
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Synophrys, Hypertrophy of the urinary bladder, High palate, Gastroeso... ORPHA:280633
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Bradycardia, Hypotension ORPHA:70587
Angiostrongyliasis
Projectile vomiting, Increased circulating IgA level, Hypereosinophilia, Increased circulating sp... ORPHA:74
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate... OMIM:603233
Kapur-Toriello Syndrome
Hypoplasia of penis, Intestinal malrotation, Patent ductus arteriosus, Orofacial cleft, Hypoplast... ORPHA:2328
Porphyria, Acute Intermittent
Tachycardia, Dysuria, Urinary incontinence, Diarrhea, Paralytic ileus, Hypertension, Urinary rete... OMIM:176000
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Portal hypertension, Cholangitis, Pancreatic cysts, Abnormal mesente... ORPHA:284
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... OMIM:608022
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... ORPHA:69076
Tempi Syndrome
Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG lev... ORPHA:284227
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Trac... ORPHA:59315
Beta-Mercaptolactate Cysteine Disulfiduria
Joint hyperflexibility, Umbilical hernia, Obesity ORPHA:1035
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Obesity ORPHA:2206
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio... OMIM:618459
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Floating-Harbor Syndrome
Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Gastroesophageal reflux, Microdontia, ... ORPHA:2044
Migraine, Familial Hemiplegic, 2
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Optic atro... OMIM:220110
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... OMIM:616586
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal lymphocytic tubulitis, Sterile pyuria, Renal interstitial edema, Tubuloi... ORPHA:91500
Leopard Syndrome 1
Bundle branch block, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Cleft palate, Microp... OMIM:151100
Hydroxykynureninuria
Stomatitis, Renal tubular acidosis, Tachycardia, Hypotension ORPHA:79155
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Hypotriglyceridemia, Hepatomegaly, Micronodular cirrhos... ORPHA:404454
Spondyloocular Syndrome
Osteopenia, Unilateral cryptorchidism, Thin bony cortex, Decreased body weight OMIM:605822
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... ORPHA:3206
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepati... OMIM:619534
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Dysplastic erythropoesis, Increased circulating ferritin concentra... ORPHA:300298
Mirizzi Syndrome
Dark urine, Tachycardia, Nausea, Pancreatitis, Jaundice, Cholesterol gallstones, Vomiting, Cholel... ORPHA:521219
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbumin... ORPHA:171
Chikungunya
Abnormal bleeding, Epistaxis, Joint stiffness, Raynaud phenomenon, Periostitis, Osteolysis, Synov... ORPHA:324625
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Cleft lip, D... OMIM:618348
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hyperhidrosis, Hypertensi... OMIM:614653
14Q11.2 Microduplication Syndrome
Exaggerated cupid's bow, Hypothyroidism, Obesity, Highly arched eyebrow ORPHA:261229
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability ORPHA:447980
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Pancytopenia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricula... OMIM:618321
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Heart m... OMIM:615418
Chanarin-Dorfman Syndrome
Hepatomegaly, Ataxia, Sensorineural hearing impairment, Microtia, Hepatic steatosis OMIM:275630
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Optic atrophy, Bradycardia, Abnormal autonomic nervous system physiology, Joint ... OMIM:614498
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Obesity, Joint hypermobility OMIM:619056
Tick-Borne Encephalitis
Facial palsy, Leukocytosis, Leukopenia, Abnormal glossopharyngeal nerve morphology, Increased cir... ORPHA:297
Baralle-Macken Syndrome
Urinary incontinence, High, narrow palate, Obesity, Cafe-au-lait spot, Hirsutism OMIM:619255
Desmosterolosis
Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia, Splenomegaly, Patent ductus art... ORPHA:35107
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Fucosidosis
Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Abnormal pyramidal sign,... ORPHA:349
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Eosinophilia, Pneumonia, Diarrhea, Rec... ORPHA:169160
Necrotizing Enterocolitis
Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Lethargy, Hyperglycemia, Thrombocytopenia ORPHA:391673
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Orthostatic Intolerance
Orthostatic tachycardia, Elevated urinary norepinephrine level OMIM:604715
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis... ORPHA:69126
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Tachycardia, Autoimmune antibody positivity, Failure to thrive in inf... ORPHA:264675
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Renal hamartoma, C... OMIM:267000
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Typhoid
Ataxia, Tremor, Splenomegaly, Hypertonia, Lethargy ORPHA:99745
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Autoimmunity, Gastroesophageal reflux, Dysphagia, Joint contracture of th... ORPHA:220402
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Inguinal hernia, Hypospadias, Telangiectasia of the skin, Transient ischemic a... ORPHA:286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Sparse scalp hair, Hypospadias, Precocious puberty, Areas of hypopigmentation and hyperpigmentati... OMIM:210720
Distal Triplication 15Q
Abnormal external genitalia, Craniosynostosis, Large for gestational age, Birth length greater th... ORPHA:314588
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Livedoid Vasculopathy
Abnormality of complement system, Hyperpigmented streaks, Lupus anticoagulant, Ecchymosis, Polycy... ORPHA:542643
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Nodular Non-Suppurative Panniculitis
Splenomegaly, Panniculitis, Inflammatory abnormality of the eye, Autoimmunity ORPHA:33577
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Dysphagia, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive... OMIM:123450
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Inappropriate laughter, Self-... OMIM:103050
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Desbuquois Dysplasia 1
Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa... OMIM:251450
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Immunodeficiency 36 With Lymphoproliferation
Autoimmunity, Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Increas... OMIM:616005
Triploidy
Omphalocele, Hepatomegaly, Hypoplasia of penis, Low-set, posteriorly rotated ears, Hypospadias, C... ORPHA:3376
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Mercury Poisoning
Tachycardia, Hypertension, Interstitial pneumonitis, Hypotension, Acute kidney injury, Episodic v... ORPHA:330021
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Cleft lip, Narrow mouth, Obesity, Cleft palate, Downturned corners of mouth, Everted lower lip ve... OMIM:618089
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil... OMIM:300486
Erythermalgia, Primary
Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation, Palpitations, Abno... OMIM:133020
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Anhidrosis, Autoimmunity, Pneumonia, Splenomegaly, Hypocalcification of dental ... ORPHA:169090
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi... ORPHA:2968
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Metrorrh... ORPHA:99147
Ehlers-Danlos Syndrome, Periodontal Type, 1
Inguinal hernia, Alveolar bone loss around teeth, Autoimmunity, Hiatus hernia, Intestinal perfora... OMIM:130080
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... OMIM:239100
Intellectual Developmental Disorder, Autosomal Dominant 59
Self-mutilation OMIM:618522
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Ataxia, Parkinsonism, Abnormal auditory evoked potentials, Opt... ORPHA:909
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Puberty and gonadal disorders, Downturned corners of mouth, Urinary incontinence, Obesity ORPHA:464282
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Primary Intestinal Lymphangiectasia
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Depression, Limb ataxia, Dysdiadochokinesis, Diffic... OMIM:617675
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Delayed eruption of primary teeth, Dilated cardiomyop... OMIM:300952
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... ORPHA:3109
Ehlers-Danlos Syndrome, Vascular Type
Inguinal hernia, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism... OMIM:130050
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... OMIM:607060
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Obesity, Limited shoulder movement OMIM:618821
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, H... OMIM:610217
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Tented upper lip vermilion, First degree atrioventricular block, Encopresis,... ORPHA:589821
Childhood Absence Epilepsy
Abnormal social behavior, Depression ORPHA:64280
Chromosome 19P13.13 Deletion Syndrome
Self-injurious behavior OMIM:613638
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Narrow palate, Anteriorly ... OMIM:276820
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Ataxia, Microvesicula... OMIM:124000
Acute Bilirubin Encephalopathy
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia... ORPHA:529799
Chronic Bilirubin Encephalopathy
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia... ORPHA:529808
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno... ORPHA:398124
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Umbilical hernia, Generalized osteoporosis, ... OMIM:617952
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Renal insufficiency, Menometrorrhagia, Hypopigmen... ORPHA:79430
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... ORPHA:33445
Infantile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve ... ORPHA:206436
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Ventricular tachyca... ORPHA:159
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Cellulitis, Intestinal lymphangiectasia,... OMIM:616843
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... ORPHA:85188
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Ataxia, Elevated circulating creatin... OMIM:615356
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... OMIM:618969
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Rasmussen Subacute Encephalitis
Autoimmunity, Antinuclear antibody positivity, Irritability, Anti-dsDNA antibody positivity, Emot... ORPHA:1929
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, O... OMIM:251900
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... OMIM:232800
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Dysphagia, Vocal cord paresis OMIM:619574
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormal fin... ORPHA:2036
Alagille Syndrome 1
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... OMIM:118450
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Delayed eruption of teeth, Abnormality of the pineal gland, Abnor... ORPHA:369950
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Oliguria, Central hypothyroidis... ORPHA:514
Ciliary Dyskinesia, Primary, 46
Hearing impairment, Reduced sperm motility OMIM:619436
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Highly arched eyebrow, Elbow flexion contracture, Cleft palate, Furrowed tongue, ... OMIM:615065
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Tooth agenesis, Syncope, Nail dystr... OMIM:615821
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Abnormal bone o... ORPHA:2563
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Thin upper lip vermilion, Elbow hypertrichosis, Eczema, Carious teeth, Obesity, Organic aciduria,... OMIM:620191
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Hyperkalemia, Elevated c... OMIM:620366
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam... ORPHA:31825
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Obesity ORPHA:411515
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, P... OMIM:160980
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Oeis Complex
Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli... OMIM:258040
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Precocious pub... OMIM:613254
Scrub Typhus
Abnormal bleeding, Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, H... ORPHA:83317
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Bifid scrotum, Small scrotum, Short nail, Hypoplastic labia minora, Optic atrophy, Hypoplastic la... ORPHA:324540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... OMIM:614069
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Aganglionic megacolon, Abnormality of the kidney, Renal agenesis, Chronic kidney dis... ORPHA:261222
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... ORPHA:533
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Recurrent ski... ORPHA:33001
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... ORPHA:447
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,... OMIM:229600
Arthrogryposis, Distal, Type 4
Low anterior hairline, Low posterior hairline, Hypoplastic labia majora, Camptodactyly of 2nd-5th... OMIM:609128
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... ORPHA:35909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Distal Deletion 9P
Hypospadias, Abnormality of the dentition, High, narrow palate, Cleft palate, Hypoplastic labia m... ORPHA:1642
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Craniosynostosis, Obesity, Impaire... ORPHA:261197
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation o... OMIM:614072
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia OMIM:618060
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Median cleft lip, Natal tooth, Intestinal malrotation... OMIM:269860
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Tremor, Anemia, Neutropenia, Lethargy, Thrombocytopenia OMIM:251100
Yellow Fever
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... ORPHA:99829
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Positive direct ... ORPHA:71275
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Persistence of primary teeth, Supernu... OMIM:619752
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:158048
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... ORPHA:30391
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... OMIM:300942
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat... ORPHA:1333
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Juvenile rheumatoid arthritis ORPHA:85414
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Ataxia, Posteriorly rotated ears, Car... OMIM:618143
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... OMIM:270450
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Widely spaced ... OMIM:618268
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Hepatomegaly, Exaggerated median ton... OMIM:312870
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia OMIM:618107
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart f... OMIM:611126
Myxopapillary Ependymoma
Vomiting, Autonomic bladder dysfunction ORPHA:251643
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Melanocytic nevus, Downturned corners of mouth, Truncal obesity, High palate, Short philtrum ORPHA:85280
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Weight loss, Nephrotic syndrome, ... ORPHA:29073
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Unsteady gait, Norm... OMIM:615512
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Dental crowding, Eosinophilia, Eczema, Keratitis, Chronic diarrhea, Increased circulating IgE lev... OMIM:618523
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Anal fissure, Eczema, ... OMIM:618935
Dent Disease
Renal hypophosphatemia, Recurrent fractures, Osteomalacia, Elevated circulating creatine kinase c... ORPHA:1652
Intellectual Developmental Disorder, Autosomal Dominant 1
Short attention span, Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughte... OMIM:156200
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... OMIM:616860
Ebola Hemorrhagic Fever
Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia ORPHA:319218
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hyperconvex nail, Hypoplastic labia m... OMIM:269150
Hand-Foot-Genital Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Bicornuate uterus, A... ORPHA:2438
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Femoral-Facial Syndrome
Thin upper lip vermilion, Inguinal hernia, Renal agenesis, Maternal diabetes, Abnormal renal coll... OMIM:134780
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Decreased circulating total IgM, Neutropenia, Enamel hypoplasia, Dec... ORPHA:2643
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Diarrhea, Oliguria, Weight loss, Hy... ORPHA:188
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, A... OMIM:616364
Lujo Hemorrhagic Fever
Fulminant hepatitis, Hyperhidrosis, Leukopenia, Vomiting, Ecchymosis, Nausea, Maculopapular exant... ORPHA:319213
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... OMIM:619260
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Incontinentia Pigmenti
Ridged nail, Conical tooth, Uveitis, Abnormality of skin pigmentation, Oligodontia, Coarse hair, ... OMIM:308300
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Shortened QT interval, Primary hyp... ORPHA:143
Plague
Glossitis, Chapped lip, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inflammation ... ORPHA:707
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension OMIM:614651
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Rere-Related Neurodevelopmental Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia ORPHA:494344
Monosomy 18P
Autoimmunity, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti... ORPHA:1598
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Papilledema, Cachexia, Splenomegaly, Abnormality ... ORPHA:2072
Mitchell Syndrome
Abnormal autonomic nervous system physiology, Dysphagia OMIM:618960
Cholera
Tachycardia, Abnormality of renal excretion, Diarrhea, Hypovolemic shock, Vomiting, Hypotension, ... ORPHA:173
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Rheumatoid arthritis, Hypot... ORPHA:48377
X-Linked Creatine Transporter Deficiency
Athetosis, Hyperactivity, Ataxia, Self-mutilation ORPHA:52503
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Lower limb spasticity, Spastic tetraparesis, Hematemesis, Splenomegaly, Increased c... OMIM:615846
Bladder Exstrophy
Omphalocele, Hypoplasia of penis, Inguinal hernia, Recurrent urinary tract infections, Intestinal... ORPHA:93930
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Renal agenesis, Delayed eruption of primary teeth, Aplasia of the paroti... OMIM:149730
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Obesity, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfunction OMIM:604360
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Small for gestational age, Narrow mouth, Hypochromic microcytic anemia, Vomi... OMIM:619147
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Abdominal s... OMIM:614874
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Athetosis, Restlessness, Self-biting OMIM:614388
Lassa Fever
Shock, Abnormal bleeding, Menometrorrhagia, Jaundice, Diarrhea, Oliguria, Increased circulating I... ORPHA:99824
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Failure to thrive, Hypoalbuminemia, Elevated circulating creatine kina... OMIM:619055
Dermatitis Herpetiformis
Malabsorption, Eczema, Autoimmunity, Microcytic anemia ORPHA:1656
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thro... OMIM:127550
Cog5-Cdg
Elevated hepatic transaminase, Hepatomegaly, Posteriorly rotated ears, Camptodactyly of finger, C... ORPHA:263487
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Confusion, Megaloblastic anemia, Tremor, Dementia, Abnormality of extrapyramidal motor function, ... OMIM:277400
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Lysinuric Protein Intolerance
Hepatomegaly, Failure to thrive, Nausea, Splenomegaly, Thrombocytopenia, Diarrhea, Stage 5 chroni... OMIM:222700
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Joint st... OMIM:609069
17Q12 Microduplication Syndrome
Self-injurious behavior ORPHA:261272
Microhydranencephaly
Athetosis, Self-mutilation OMIM:605013
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardio... OMIM:251000
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Foot osteomyelitis, Abnormal autonomic nervous system ... ORPHA:139578
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Neurogenic bladder, Multiple joint contractures, Optic atrophy, Hepatosplenomegaly, Constipation,... ORPHA:466934
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, Sinusitis, Malabsorpt... ORPHA:83471
Congenital Macroglossia
Hypothyroidism, Abnormal hepatic glycogen storage ORPHA:2430
Nail-Patella Syndrome
Flexion contracture, Knee flexion contracture, Nephritis, Abnormality of the nail, Abnormality of... ORPHA:2614
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow mouth, Synophrys, Obesity, Narrow palate, Hypoplasia of teeth, Wide mouth, Fine hair, Over... OMIM:620250
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:620075
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Endove Syndrome, Limb-Only Type
Hypoplastic labia majora, Volar fingernail, Vesicoureteral reflux, Umbilical hernia, Hydronephrosis OMIM:619217
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Increased circulating IgG level, Hig... OMIM:619472
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... OMIM:300257
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Mildly elevated creatine kinase, Large for gestational age ORPHA:169189
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Hypospadias, Small for gestational age, Hypoglycemia, Ataxia, Tremor, Microvesic... OMIM:220111
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... OMIM:601214
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Inguinal hernia, Severe B lymphocytopenia, Superficial dermal pe... ORPHA:83617
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... OMIM:611705
Mulibrey Nanism
Hepatomegaly, Enamel hypoplasia, Thickened cortex of long bones, Congestive heart failure OMIM:253250
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Flexion contracture, Abnormal renal morphology, Hypoplastic labia majora, Camptodactyly, Vaginal ... OMIM:207410
Isolated Osteopoikilosis
Discoid lupus rash, Keloids, Autoimmunity, Cleft palate ORPHA:166119
Ivic Syndrome
Thrombocytopenia, Leukocytosis, Rectovaginal fistula, Arrhythmia, Anal atresia ORPHA:2307
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Intestinal perforation, Secretory diar... ORPHA:544482
Neurofibroma
Melanocytic nevus, Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestina... ORPHA:252183
Okamoto Syndrome
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Urinary... ORPHA:2729
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardial contractility, Mildly elev... ORPHA:79102
Persistent Idiopathic Facial Pain
Abnormal autonomic nervous system physiology ORPHA:398147
Chime Syndrome
Osteolysis, Tall stature, Acute leukemia ORPHA:3474
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia OMIM:174900
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Ramon Syndrome
Delayed eruption of teeth, Optic disc pallor, Enlarged labia minora, Gingival fibromatosis, Narro... OMIM:266270
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... OMIM:618160
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Persistence of primary teeth, Recurrent pneumonia, Increased circulating... OMIM:147060
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... ORPHA:100085
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Splenome... OMIM:615895
Cutaneous Mastocytoma
Telangiectasia of the skin, Maculopapular exanthema, Hypermelanotic macule, Diarrhea, Lymphadenop... ORPHA:79455
Localized Scleroderma
Fasciitis, Autoimmunity, Abnormality of the dentition, Flexion contracture, Dental malocclusion, ... ORPHA:90289
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Thin lower lip ... ORPHA:221139
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Clonus, Spastic tetraparesis, Babinski sign, HbH hemoglobin, Limb hypertonia ORPHA:423479
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromic mi... ORPHA:440713
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spasticity, Clumsiness... ORPHA:309271
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Flexion contracture, Widely spaced teeth, Hepatomegaly, Papilledem... OMIM:309900
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration OMIM:221400
Mevalonic Aciduria
Normocytic hypoplastic anemia, Optic disc pallor, Failure to thrive in infancy, Skin rash, Elevat... OMIM:610377
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Recurren... OMIM:612444
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Obesity ORPHA:174
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Self-injurious behavior, Abnormal temper tantrums, Aggressive behavior ORPHA:404473
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented... OMIM:613266
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Skin rash, Increased circulating IgA l... OMIM:617099
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Hemoglob... ORPHA:90038
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Eczema, Slow-growing hair, Abnorma... ORPHA:238468
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Pettigrew Syndrome
Aggressive behavior, Gait ataxia, Choreoathetosis, Self-injurious behavior, Stereotypical hand wr... OMIM:304340
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Autoimmunity, Primary adrenal insufficiency, Chronic muc... ORPHA:3453
Transketolase Deficiency
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... ORPHA:488618
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Optic disc pallor, Hypospadias, Optic neuropathy, S... OMIM:252010
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Vasculitis, Recurrent pneum... OMIM:617718
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Hypertension, ... OMIM:616069
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... ORPHA:244242
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ul... OMIM:617638
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Cardiomegaly, Hepato... OMIM:268800
Japanese Encephalitis
Neutrophilia, Weakness due to upper motor neuron dysfunction, Dystonia, Anorexia, Paralysis, Trem... ORPHA:79139
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, Irritability, Glucose intolerance, Hypertonia, Gl... OMIM:616539
Cloacal Exstrophy
Omphalocele, Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypo... ORPHA:93929
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, L... ORPHA:79477
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Osteogenesis Imperfecta
Osteopenia, Osteoarthritis, Flexion contracture, Hyperhidrosis, Decreased skull ossification, Abn... ORPHA:666
Kawasaki Disease
Pericarditis, Abnormality of nail color, Proteinuria, Skin rash, Congestive heart failure, Cervic... ORPHA:2331
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Decreased response to growth hormone stimulation tes... ORPHA:293987
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Dement... ORPHA:447753
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials OMIM:617523
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... ORPHA:100075
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level OMIM:619767
Vaginal Atresia
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... ORPHA:65681
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Dysmetria, Dysphagia, Dystonia, Lymphopenia, Intention tremor OMIM:619708
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
Metachromatic Leukodystrophy
Incoordination, Ataxia, Dystonia, Tremor, Dementia, Gait disturbance, Tip-toe gait, Decerebrate r... ORPHA:512
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Gait disturbance, Abnormal temper tantrums, Attention deficit h... ORPHA:500055
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... ORPHA:857
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Petechiae, ... ORPHA:99828
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Skin rash, Myocarditis, Splenomegaly, Congestive heart failu... ORPHA:3386
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia ORPHA:1302
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Synophrys, Pierre-Robin sequence, Anterior open-bite m... OMIM:617877
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Autoimmunity, Hypersplenism, Splenomegaly, Chronic diarrhea, Hepatitis, Short philt... OMIM:613385
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Atopic dermatitis, Hypereosinophilia, Autoimmunity ORPHA:2902
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Self-injurious behavior, Impulsivity, Attention deficit hyperactivity disorder OMIM:618929
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Nabais Sa-De Vries Syndrome, Type 1
Self-injurious behavior OMIM:618828
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Tetrasomy 9P
Absent gallbladder, Pericarditis, Abnormal dental enamel morphology, Raynaud phenomenon, Cryptorc... ORPHA:3310
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Recurrent urinary tract infection... ORPHA:976
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmetria, Supr... OMIM:620185
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Anemia, Abnormality of extrapyramidal motor function, Dy... OMIM:612199
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Increased urinary glycerol OMIM:229700
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Neonatal ... OMIM:130650
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Inguinal hernia, Ataxi... ORPHA:1454
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... OMIM:615453
Alternating Hemiplegia Of Childhood
Exaggerated cupid's bow, Cardiac conduction abnormality, Oral-pharyngeal dysphagia, Diarrhea, Hyp... ORPHA:2131
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency, Decreased serum testosterone concentration OMIM:609195
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bru... OMIM:300912
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thin upper lip vermilion, Macrodontia, Encopresis, Synophrys, Obesity, High palate,... OMIM:618443
6Q Terminal Deletion Syndrome
Hypospadias, Highly arched eyebrow, Phimosis, High, narrow palate, Low anterior hairline, Obesity... ORPHA:75857
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Thrombocytopenia, Persisten... OMIM:617052
Pycnodysostosis
Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Decre... ORPHA:763
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... OMIM:603554
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Palpitation... OMIM:255125
Wolman Disease
Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Ascites, Adrenal insufficiency, Stea... ORPHA:75233
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Galloway-Mowat Syndrome 1
Small for gestational age, Ataxia, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Joint contractu... OMIM:251300
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Abnormal autonomic nervous system physiology, T... ORPHA:101016
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Abnormality of the kidney, Keratitis, Increase... ORPHA:1163
Insensitivity To Pain, Congenital, With Anhidrosis
Anhidrosis, Sparse scalp hair, Osteomyelitis, Keratitis, Corneal scarring, Abnormal autonomic ner... OMIM:256800
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephr... OMIM:215250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Myoglobinuria, Arrhythmia, Elevated creatine kinase after exercise, Acute kidne... ORPHA:57
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Uplifted earlobe, Large for gestational age, Precocious puberty, Overgrowth, Umb... ORPHA:261652
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa... OMIM:232240
Ataxia-Oculomotor Apraxia Type 4
Obesity, Telangiectasia ORPHA:459033
Netherton Syndrome
Decreased circulating IgG level, Sparse scalp hair, Villous atrophy, Brittle hair, Recurrent skin... OMIM:256500
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... OMIM:214950
Eisenmenger Syndrome
Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, Bacterial endocarditis... ORPHA:97214
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Inguinal hernia, Generalized joint laxity, Decreased calvarial ossifica... OMIM:613848
Primrose Syndrome
Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Joint hypermobility, Elevated... OMIM:259050
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia OMIM:617729
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Intellectual Developmental Disorder, Autosomal Recessive 13
Cleft upper lip, Synophrys, Downturned corners of mouth, Truncal obesity, Short philtrum, Smooth ... OMIM:613192
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Hypocalce... OMIM:612301
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu... ORPHA:85410
Ramos-Arroyo Syndrome
Sparse scalp hair, Aganglionic megacolon, Carious teeth, Keratitis, Patent ductus arteriosus, Xer... ORPHA:1051
Man1B1-Cdg
Thin upper lip vermilion, Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Multipl... ORPHA:397941
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Hepatomegaly, Cryoglobulinem... ORPHA:33226
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... ORPHA:100080
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis OMIM:617186
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Autoim... ORPHA:436252
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the young, Tremor, Ir... ORPHA:1578
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... ORPHA:100082
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Open bite, Deep philtrum, Widow's peak, Wide mouth, Coarse ha... ORPHA:1974
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Weight loss ORPHA:67
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Short lingual frenulum, Abnormal fingernail morphology, Supernumerary nipple, Bifid uterus, Abnor... ORPHA:1521
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Autoimmunity ORPHA:703
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Stuve-Wiedemann Syndrome 1
Pursed lips, Carious teeth, Elbow flexion contracture, Dysphagia, Knee flexion contracture, Hyper... OMIM:601559
Hennekam-Beemer Syndrome
Generalized hyperpigmentation, Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Th... ORPHA:2135
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Addictive alcohol use ORPHA:1930
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven... OMIM:605676
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Increased susceptibility to fractures, Hypertension, Hyperuricemia, Abnormal... ORPHA:2769
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity OMIM:176500
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Synophrys, Chronic diarrhea, Widow's peak, Obesity, A... OMIM:620072
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splen... OMIM:260920
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... OMIM:619609
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:90673
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Orthostatic hypotension, Optic atrophy, Adrenocorticotropin... OMIM:231550
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Obesity, Downturned corners of mouth, Const... OMIM:618430
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Small for gestational age, Unilateral renal age... ORPHA:93101
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Optic atro... OMIM:243910
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Gaucher Disease, Perinatal Lethal
Dysphagia, Akinesia, Progressive neurologic deterioration OMIM:608013
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Nail dystrophy, Nephritis... OMIM:609057
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Abnorma... ORPHA:57777
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... OMIM:612650
Ileal Neuroendocrine Tumor
Intestinal fistula, Tricuspid stenosis, Nausea, Right ventricular failure, Arterial occlusion, In... ORPHA:100078
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... OMIM:301000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysphagia, Progressive gait at... OMIM:606002
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... OMIM:618913
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Thalidomide Embryopathy
Radial club hand, Insulin resistance ORPHA:3312
Chromosome 5Q12 Deletion Syndrome
Patent ductus arteriosus, Wide mouth, Macroglossia, Disproportionate tall stature, Short philtrum... OMIM:615668
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Diarrhea, Autoimmunity ORPHA:56425
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Impaired myocardial contractility, Adrenocortical adenoma, Increased intram... ORPHA:681
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F... OMIM:619503
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Sparse scalp hair, Proteinuria, Sparse eyelashes, Hypoplastic toenails, Sparse eyebr... OMIM:616901
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Facial palsy, Cheilitis, Furrowed tongue, Lymphadenopathy, ... ORPHA:2483
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus, Renal hypoplasia/aplasia ORPHA:1788
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Delayed ossification of carpal bones, Obesity OMIM:618395
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirub... OMIM:615710
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Hypothyroi... OMIM:607944
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Diarrhea, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hype... OMIM:264350
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior ORPHA:371364
Congenital Myopathy 12
Akinesia OMIM:612540
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... OMIM:276700
Harlequin Ichthyosis
Self-injurious behavior ORPHA:457
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Fair hair, Albinism, Periodontitis, Gastroesophageal reflux, Neut... OMIM:608233
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity disorder,... ORPHA:476126
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Spastic tetraparesis, Flexion contractur... OMIM:614098
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria ORPHA:2239
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... OMIM:601847
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie... OMIM:107480
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Thick eyebrow, Recurrent urinary tract infections... OMIM:619229
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Inguinal hernia, Sagittal craniosynostosis, Limited elbow mo... ORPHA:221120
Lambert-Eaton Myasthenic Syndrome
Xerostomia, Hypohidrosis, Keratoconjunctivitis sicca, Impotence, Constipation, Abnormal autonomic... ORPHA:43393
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Microscopic Polyangiitis
Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit... ORPHA:727
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Congestive heart f... OMIM:609015
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... OMIM:235555
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Left ventricular hyp... OMIM:613873
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... OMIM:300555
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Ataxi... ORPHA:2609
Isolated Epispadias
Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Bi... ORPHA:93928
Griscelli Syndrome Type 1
Hyperlipidemia, Hypertonia, Ataxia ORPHA:79476
Lymphoid Interstitial Pneumonia
Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... ORPHA:79128
Loeys-Dietz Syndrome
Abnormal bleeding, Cardiac arrest, Camptodactyly of finger, Patent ductus arteriosus, Orofacial c... ORPHA:60030
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Cranioectodermal Dysplasia 2
Cholangitis, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia, Sparse hair,... OMIM:613610
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita... ORPHA:2260
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Infantile Neuroaxonal Dystrophy
Flexion contracture, Optic atrophy, Constipation, Abnormal autonomic nervous system physiology, A... ORPHA:35069
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive ORPHA:79396
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Mi... OMIM:616201
Intrahepatic Cholestasis Of Pregnancy
Skin rash, Autoimmunity, Depression, Abnormal pineal melatonin secretion, Cholecystitis, Hypothyr... ORPHA:69665
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Micronodular cirrhosis, Punctate va... OMIM:192315
Retinitis Pigmentosa 51
Obesity OMIM:613464
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Antisynthetase Syndrome
Myositis, Skin rash, Autoimmunity, Myocarditis, Xerostomia, Keratoconjunctivitis sicca, Dysphagia ORPHA:81
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Dental crowding, Orofacial cleft, Urethral atresia, High pala... ORPHA:2052
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Umbilical hernia, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly OMIM:235510
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Bronchiectasis, Autoimmunity ORPHA:1303
Vici Syndrome
Abnormality of retinal pigmentation, Decreased circulating IgG2 level, Optic atrophy, Ureteral at... ORPHA:1493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Self-injurious behavior ORPHA:435938
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Glomerulonephritis, Increased circulating IgA level, Hematuria, Thrombocytopenia OMIM:314000
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Antiphospholipid antibody positivity, Cardiac shunt, Autoimmunity, Pulmonary embol... ORPHA:70591
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Spastic paraplegia, Depression, Self-injurious behavior, Anemia ORPHA:847
Tako-Tsubo Cardiomyopathy
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... ORPHA:66529
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Paten... OMIM:617088
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induc... OMIM:153670
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Head-banging, Self-injurious behavior, Attention deficit hyperactivity diso... OMIM:619575
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Zika Virus Disease
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Retinal pigment epithelial mottling,... ORPHA:448237
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Hypermelanotic macule, S... OMIM:617730
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Recu... ORPHA:508533
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Doors Syndrome
Thrombocytosis, Myoclonus ORPHA:79500
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cardiomegaly, Patent ductus arteriosus, Abnormal heart valve p... ORPHA:3384
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Acute Radiation Syndrome
Abnormal bleeding, Inflammatory abnormality of the skin, Hyperpigmentation of the skin, Diarrhea,... ORPHA:454831
Pemphigus Foliaceus
Psoriasiform dermatitis, Autoimmunity, Abnormal oral mucosa morphology, Pustule, Crusting erythem... ORPHA:79481
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Broad-based gait, Aggressive behavior, Emotional lability, Polyphagia, Self-mutilation ORPHA:251028
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Juvenile Nephropathic Cystinosis
Renal insufficiency, Failure to thrive, Proteinuria, Chronic kidney disease, Abnormal urine potas... ORPHA:411634
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... ORPHA:565612
Scleromyxedema
Transient ischemic attack, Abnormality of thyroid physiology, Elevated circulating creatine kinas... ORPHA:167635
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Abnormality of the den... ORPHA:2314
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, T... OMIM:242860
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Autoimmunity, Arthritis, Constipation, Gastroesophagea... ORPHA:732
Weill-Marchesani Syndrome 2
Joint stiffness, Congestive heart failure, Patent ductus arteriosus, Elbow flexion contracture, M... OMIM:608328
Cystic Fibrosis
Osteopenia, Elevated hepatic transaminase, Absent vas deferens, Osteoporosis, Abnormality of the ... ORPHA:586
Corticosterone Methyloxidase Type I Deficiency
Renal salt wasting, Increased circulating renin level, Vomiting, Hypotension, Failure to thrive, ... OMIM:203400
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Elevated circulating creat... OMIM:620300
Neu-Laxova Syndrome 1
Renal agenesis, Bifid uterus, Swollen lip, Cryptorchidism, Cleft upper lip, Thick lower lip vermi... OMIM:256520
X-Linked Intellectual Disability, Hedera Type
Obesity ORPHA:93952
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis OMIM:605479
Dpagt1-Cdg
Ataxia, Akinesia, Aggressive behavior, Inability to walk, Head-banging, Stereotypical body rockin... ORPHA:86309
Inhalational Anthrax
Vomiting, Internal hemorrhage, Hypotension, Abnormal sweat gland morphology ORPHA:247257
1P21.3 Microdeletion Syndrome
Self-injurious behavior, Abnormal eating behavior, Self-mutilation, Aggressive behavior ORPHA:293948
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Aicardi-Goutières Syndrome
Diabetes mellitus, Extrapyramidal muscular rigidity, Dystonia, Neonatal alloimmune thrombocytopen... ORPHA:51
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... ORPHA:3240
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Functional abnormality of the bladder, Small for gestational age OMIM:300076
Bladder Exstrophy And Epispadias Complex
Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly... OMIM:600057
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... ORPHA:70578
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior ORPHA:309263
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Median cleft lip, Hypospadias, Bifid uterus, Cleft palate, Adrenal... OMIM:236680
Immunodeficiency 31C
Villous atrophy, Protein-losing enteropathy, Recurrent vulvovaginal candidiasis, Hypothyroidism, ... OMIM:614162
White-Sutton Syndrome
Ventral hernia, Thin upper lip vermilion, Inguinal hernia, Duplicated collecting system, Congenit... ORPHA:468678
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypotension, Anemia OMIM:611489
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit... ORPHA:90368
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Retinal telangiectasia, Obesity, Overgrowth, Tracheom... OMIM:620155
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ... ORPHA:31150
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Fatal Familial Insomnia
Hyperhidrosis, Weight loss, Constipation, Urinary retention, Abnormal autonomic nervous system ph... OMIM:600072
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, High palate, Abnormal thalamus morphology, Abnormal autonomic nervous sys... ORPHA:300570
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Tongue thrusting, Self-injurious behavior, Stereotypical body rocking, Bruxism ORPHA:261323
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth, Dysphagia,... ORPHA:411511
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Increased circulating IgE level, Onycholysis, Palmoplantar hyperhidro... OMIM:270300
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Weill-Marchesani Syndrome 1
Joint stiffness, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aortic valve ... OMIM:277600
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... ORPHA:3202
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased... OMIM:300861
Bainbridge-Ropers Syndrome
Inability to walk, Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:615485
3Q29 Microduplication Syndrome
Camptodactyly of toe, Obesity, Craniosynostosis ORPHA:251038
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity, Neonatal hypoglycemia OMIM:608624
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Achilles tend... OMIM:607155
Shox-Related Short Stature
Obesity ORPHA:314795
Angelman Syndrome
Protruding tongue, Blue irides, Obesity, Wide mouth, Macroglossia, Widely spaced teeth, Constipat... OMIM:105830
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Indifference To Pain, Congenital, Autosomal Recessive
Anhidrosis, Urinary incontinence, Hypohidrosis, Abnormal autonomic nervous system physiology, Abn... OMIM:243000
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Facial palsy, Ankle flexion contracture, Elevated circulating creatine kinase concentration, Flex... ORPHA:206549
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Speech apraxia, Clonus, Poor coor... ORPHA:415
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Abnormality of the kidney, Hypopigmented skin pa... ORPHA:895
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Eczema, Celiac disease, Increased circulating IgE l... OMIM:618985
Glossopharyngeal Neuralgia
Autoimmunity, Oral-pharyngeal dysphagia, Depression, Tongue pain, Abnormal palate morphology ORPHA:221098
Posttransplant Acute Limbic Encephalitis
Abnormal autonomic nervous system physiology ORPHA:163921
Congenital Insensitivity To Pain With Severe Intellectual Disability
Self-mutilation ORPHA:453510
Temtamy Syndrome
Self-mutilation OMIM:218340
Darier-White Disease
Enlargement of parotid gland, Ridged nail, Hypermelanotic macule, Subungual hyperkeratotic fragments OMIM:124200
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... ORPHA:897
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:544488
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Tented upper lip vermilion, Aganglionic megacolon, White eyelashes, Whi... ORPHA:894
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Slender build, Decreased response to growth hormone stimulation test, Craniosynosto... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Slender build, Decreased response to growth hormone stimulation test, Craniosynosto... ORPHA:363958
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica... OMIM:212066
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Malabsorption, Ectopic kidney, Sparse eye... ORPHA:634
Coffin-Lowry Syndrome
Self-injurious behavior, Gait disturbance ORPHA:192
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... OMIM:557000
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... ORPHA:980
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis... OMIM:244400
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Branchiooculofacial Syndrome
Renal cyst, Premature graying of hair, Gastroesophageal reflux, Sparse hair, Ectopic thymus tissu... OMIM:113620
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Optic atrophy,... OMIM:617595
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hepatomegaly, H... ORPHA:3008
Leukodystrophy, Hypomyelinating, 12
Neurogenic bladder, Flexion contracture, Optic atrophy, Constipation, Abnormal autonomic nervous ... OMIM:616683
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed a... OMIM:203300
Extracranial Carotid Artery Aneurysm
Arteritis, Abnormality of connective tissue, Autoimmunity ORPHA:494424
Familial Hypoaldosteronism
Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hypovolemia, ... ORPHA:427
X-Linked Intellectual Disability Due To Gria3 Mutations
Self-mutilation, Aggressive behavior ORPHA:364028
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, High-output congestive heart failure, Ventricular tachyc... ORPHA:423
Colchicine Poisoning
Renal insufficiency, Alopecia, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolemia, ... ORPHA:31824
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Increased circulating antibody level, Cirrhosis OMIM:178500
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Optic atrophy, Thin vermilion border, Erectile dysfu... ORPHA:649
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... ORPHA:99845
Achondroplasia
Knee joint hypermobility, Limited elbow extension, Obesity, Hip joint hypermobility ORPHA:15
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Abnormality of the kid... ORPHA:391641
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... OMIM:615862
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas OMIM:134610
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Functional abnormality of the bladder ORPHA:2571
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Increased circulating re... OMIM:177735
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Supernumerary tooth, ... ORPHA:86818
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Submucous cleft hard palate, Obesity, Enuresis nocturna, Downturned cor... OMIM:619680
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Hypoalbuminemia, Cachexia ORPHA:79076
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Renal insufficiency, Glomerulopathy, Proteinuria, Optic atro... ORPHA:2715
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Dysphagia, Hypertonia, Neutropenia, Neonatal hypoglycemia OMIM:617248
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati... OMIM:127000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomeg... OMIM:301072
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary differentiat... OMIM:618541
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Ablepharon-Macrostomia Syndrome
Ventral hernia, Omphalocele, Absent eyebrow, Absent eyelashes, Hypoplastic labia majora, Anterior... OMIM:200110
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Renal salt wasting, Nephrocalcinosis, Increased circulating renin level, Vom... OMIM:601678
New-Onset Refractory Status Epilepticus
Infectious encephalitis, Autoimmunity ORPHA:363558
Momo Syndrome
Delayed eruption of teeth, Hyperconvex nail, Thick lower lip vermilion, Dental malocclusion, Obes... OMIM:157980
Frank-Ter Haar Syndrome
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly OMIM:249420
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Gastroint... ORPHA:1572
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-... OMIM:619774
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Cognitive impairment, Lymphopenia, Anemia ORPHA:935
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Elbow flexion contracture, Obesity, Finger joint hypermobility OMIM:618493
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Dental crowding, Eczema, Rectal prolapse, Optic disc coloboma... OMIM:617157
Meningococcal Meningitis
Shock, Papilledema, Renal insufficiency, Projectile vomiting, Skin rash, Hypotension, Infectious ... ORPHA:33475
Adult-Onset Still Disease
Splenomegaly, Leukocytosis, Neutrophilia ORPHA:829
Joubert Syndrome 8
Hepatomegaly, Optic disc pallor, Ataxia, Obesity, Hypertonia, Prolonged neonatal jaundice, Oculom... OMIM:612291
Cardiac Diverticulum
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart... ORPHA:1686
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... OMIM:300653
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Increased circulating IgE level, Atrophic scars, Nail dystrophy, Abnormal toenail morph... ORPHA:89843
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... OMIM:617466
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... OMIM:600802
Relapsing Polychondritis
Large vessel vasculitis, Uveitis, Anteriorly placed anus, Conjunctivitis, Chondritis, Glomerulopa... ORPHA:728
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sparse scalp hair, Inguinal hernia, Abnormality of the kidney, Hypoplastic toenails, Sparse eyebr... ORPHA:459061
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria, Abnormal renal tubule morph... ORPHA:839
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Nail-Patella Syndrome
Ridged nail, Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft upper lip, Concave nail,... OMIM:161200
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Citrullinemia, Classic
Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis... OMIM:215700
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Aicardi-Goutieres Syndrome 1
Inability to walk, Self-mutilation OMIM:225750
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Coni... OMIM:300291
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... ORPHA:488627
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Infant Botulism
Cardiac arrest, Bowel incontinence, Xerostomia, Hypertension, Keratoconjunctivitis sicca, Constip... ORPHA:178478
Alexander Disease Type Ii
Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system physiology, Dysphagia ORPHA:363722
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Impaired tandem gait, Lower limb hypertoni... ORPHA:99843
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Hepatomegaly, Sparse scalp hair, Conical tooth, Splenomegaly, Defective production of... OMIM:612132
Cerebrofacioarticular Syndrome
Self-injurious behavior, Ataxia ORPHA:314679
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Abnormal repetitive manneri... ORPHA:522077
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin, Spasticity, Ab... OMIM:301040
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Overweight, Obesity, Dysphagia, Hypothalamic atrophy ORPHA:2822
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Hyperlipidemia, H... ORPHA:391665
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex, Large for gestational age OMIM:612731
Desbuquois Dysplasia 2
Joint laxity, Truncal obesity, Advanced ossification of carpal bones OMIM:615777
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Inguinal hernia, Congenital diaphragmat... OMIM:600001
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction, Tooth agenesis, Bacterial endocarditis, Irregular... ORPHA:1964
Nipah Virus Disease
Infectious encephalitis, Hypotension ORPHA:99825
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Right ventricular failure, Abnormal circulating calcium concentration, Increased pu... ORPHA:60025
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Compulsive behaviors ORPHA:261236
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Anemia, Prematur... ORPHA:3322
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Reduced sperm motility OMIM:615434
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Red-brown urine, Stage 5... ORPHA:228302
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephritis, Bidirec... OMIM:619351
Xylt1-Cdg
Joint laxity, Truncal obesity, Hepatomegaly ORPHA:370930
Poliomyelitis
Abnormal motor nerve conduction velocity, Paralytic ileus, Hypertension, Hypovolemic shock, Vomit... ORPHA:2912
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Dental crowding, Optic nerve dysplasia, Obesity, Short philtrum, Dilated third ventricle OMIM:617296
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:119
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Diarrhea, Nephrolithiasis... ORPHA:18
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Cryoglobulinemia, Abnormal renal ph... OMIM:123550
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Hepatic fibrosis, Poly... OMIM:200995
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Hype... OMIM:219700
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Intraventricular hemorrhage,... ORPHA:420741
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Inguinal hernia, Shortened PR interval, Obesit... OMIM:614947
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level, Dental malocclusion, Abnormality of the dentition ORPHA:1858
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Autosomal Recessive Cutis Laxa Type 1
Inguinal hernia, Abnormal cardiac ventricular function, Small bowel diverticula, Recurrent urinar... ORPHA:90349
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Large for gestational age, Gait ataxia, Disproportionate tall ... ORPHA:457359
Tenorio Syndrome
Cerebral palsy, Hypoglycemia, Raynaud phenomenon, Clumsiness, Syncope, Hypoinsulinemia OMIM:616260
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... ORPHA:3243
Joubert Syndrome 1
Hyperactivity, Ataxia, Self-mutilation, Aggressive behavior OMIM:213300
Pyoderma Gangrenosum
Myositis, Pustule, Atrophic scars, Inflammation of the large intestine, Increased circulating ant... ORPHA:48104
Galloway-Mowat Syndrome
Proteinuria, Camptodactyly of finger, Hiatus hernia, Abnormality of the dentition, Nephrotic synd... ORPHA:2065
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss OMIM:605543
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroparesis, Facial palsy, Elevated circulating creatine kinase concentration, Left bundle bran... OMIM:610131
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Pitt-Hopkins Syndrome
Self-injurious behavior, Ataxia, Aggressive behavior, Gait ataxia ORPHA:2896
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Self-injurious behavior, Dysphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:466950
Plasminogen Deficiency, Type I
Duodenal ulcer, Gingival overgrowth, Nephrolithiasis, Gingivitis, Periodontitis, Conjunctivitis, ... OMIM:217090
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Decreased heart rate variability, Hyperhidrosis, Chronic constipation, Abn... OMIM:209880
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Adrenocorticotropin deficien... ORPHA:199296
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Downturned corners of mouth, Short philtrum, Gastroesophageal reflux, Decreased circulating IgG l... ORPHA:500150
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Haddad Syndrome
Aganglionic megacolon, Small for gestational age, Gastroesophageal reflux, Abnormal autonomic ner... ORPHA:99803
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Dysphagia, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:466943
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ... OMIM:619512
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Ora... ORPHA:555905
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Immunodeficiency 33
Delayed eruption of teeth, Increased circulating IgA level, Conical tooth, Decreased circulating ... OMIM:300636
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Microphthalmia, Lenz Type
Self-injurious behavior ORPHA:568
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria, Microdontia ORPHA:1765
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity... ORPHA:93284
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimm... ORPHA:90003
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Familial Hypocalciuric Hypercalcemia
Autoimmunity, Peptic ulcer, Lipoma, Pancreatitis, Chondrocalcinosis ORPHA:405
Brittle Cornea Syndrome
Abnormality of the dentition, Abnormality of hair pigmentation, Corneal scarring, Cleft palate, P... ORPHA:90354
Encephalitis Lethargica
Autoimmunity, Urinary incontinence, Bowel incontinence, Increased circulating antibody level, Bra... ORPHA:83600
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... OMIM:619155
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Highly elevated creatine kinase, Exercise-induced myoglobinuria ORPHA:352479
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Failure to thrive, Proteinuria, Glomerular basement membrane lamellation, St... OMIM:308940
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:612933
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Malabsorption, Diarrhea, Enamel hypomineralization, Bicarbonaturia, Bicarbonat... ORPHA:47159
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Paronychia, Increased circulating IgE level, Bloody diarrhe... OMIM:614328
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Reduced progressive sperm motility OMIM:619608
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Hereditary Sensory And Autonomic Neuropathy Type 4
Short attention span, Hyperactivity, Nail-biting, Impulsivity, Abnormal emotion, Difficulty walki... ORPHA:642
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Goodpasture Syndrome
Weight loss, Increased blood urea nitrogen OMIM:233450
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Abnormal bleeding, Skin rash, Jaundice, Diarrhea, Hepatitis, ... ORPHA:90062
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Intellectual Developmental Disorder, Autosomal Dominant 68
Absent earlobe, Hepatic steatosis, Joint contracture of the 5th finger, Posteriorly rotated ears OMIM:619934
Angioedema, Hereditary, 1
Diarrhea, Autoimmunity, Intestinal edema, Vomiting OMIM:106100
Erythema Elevatum Diutinum
Skin rash, Vasculitis in the skin, Increased circulating antibody level ORPHA:90000
Menkes Disease
Gastrointestinal hemorrhage, Inguinal hernia, Osteomyelitis, Hypopigmentation of hair, Malabsorpt... ORPHA:565
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Leptospirosis
Hepatomegaly, Pericarditis, Papilledema, Skin rash, First degree atrioventricular block, Cellular... ORPHA:509
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren... ORPHA:411629
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Self-mutilation, Dysphagia OMIM:618922
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Inguinal hernia, Unilateral renal agenesis, Congestive heart failure, Bronc... ORPHA:90348
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration ORPHA:2364
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Congestive heart failure, Optic atrophy, Hyperc... ORPHA:428
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:268200
Cranioectodermal Dysplasia 1
High, narrow palate, Tubulointerstitial nephritis, Hepatic fibrosis, High palate, Widely spaced t... OMIM:218330
Glycogen Storage Disease V
Dark urine, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:232600
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Diarrhea, Hemoglobinuria, Coombs-positive he... ORPHA:90035
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Self-mutilation ORPHA:79233
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Elevated circulating creatine kinase concentr... OMIM:617072
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia, Hypopigm... ORPHA:98795
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Anhidrosis, Abnormal bleeding, Sinus tachycardia, Elevated circulating cre... ORPHA:466650
Distal Deletion 6P
Self-injurious behavior ORPHA:96125
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration ORPHA:98895
Brittle Cornea Syndrome 1
Atypical scarring of skin, Disproportionate tall stature, Red hair, Dentinogenesis imperfecta OMIM:229200
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Erythema n... OMIM:613471
Early Infantile Epileptic Encephalopathy
Choreoathetosis, Self-injurious behavior, Episodic ataxia, Hyperactivity ORPHA:1934
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Optic nerve hypoplasia, Cryptorchidism, Aplasia of the left hemidiaphragm, Low-set ... OMIM:620025
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Abnormality of the dentition, Short dental root, Congenital hypothyroidism, Neutropenia, Decrease... OMIM:271510
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Gait disturbance, Self-mutilation, Attention deficit hyperactivity disorder OMIM:213980
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology OMIM:614575
Piebaldism
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Pieba... ORPHA:2884
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Autoimmunity, Arthritis, Constipa... ORPHA:93672
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Autoimmunity, Gastrointestinal stroma tumor, Myocar... ORPHA:221
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Glycogen Storage Disease Ixd
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria OMIM:300559
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Myasthenia Gravis
Autoimmunity, Dysphagia OMIM:254200
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Thin bony cortex OMIM:619727
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Joint laxity, Obesity OMIM:250420
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:468631
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Hyperhidrosis, Constipation, Gastroesophageal reflux, Hypotension OMIM:608643
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:620138
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... OMIM:258360
Muenke Syndrome
High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Micropenis, Thickened cortex of long bones ORPHA:488434
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P... ORPHA:542306
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Thin upper lip vermilion, Highly arched eyebrow, Frontal balding, Patent du... OMIM:612474
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Thin upper lip vermilion, Inguinal hernia, Highly arched eyebrow... OMIM:617062
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Abnormal autonomic nervous system physiology OMIM:617903
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis OMIM:209010
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Vomiting OMIM:602199
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Diarrhea, Hemolytic anemia OMIM:615399
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Retinal hemorrhage, Stage 5 chronic kidney disease, Nep... OMIM:609049
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... ORPHA:3214
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Combined Oxidative Phosphorylation Defect Type 29
Abnormal autonomic nervous system physiology, Optic neuropathy ORPHA:478029
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Duplication Of The Pituitary Gland
Self-mutilation ORPHA:314621
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:612300
Chilton-Okur-Chung Neurodevelopmental Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:619841
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Thrombocytopenia 1
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... OMIM:313900
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotension,... ORPHA:100050
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Myeloma, Multiple
Paraproteinemia OMIM:254500
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia OMIM:266120
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Immunodeficiency 67
Liver abscess, Transient neutropenia, Increased circulating IgE level OMIM:607676
Trichinellosis
Skin rash, Facial palsy, Increased circulating IgE level, Retinal hemorrhage, Conjunctivitis, Dys... ORPHA:863
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Cardiomegaly,... OMIM:620066
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Macular scar, Vasculitis, Tubulointerstitial nephritis... ORPHA:279914
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Cardiomegaly, Pate... ORPHA:99125
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level OMIM:114065
Retinitis Pigmentosa 74
Obesity OMIM:616562
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Alzahrani-Kuwahara Syndrome
Tip-toe gait, Self-mutilation OMIM:619268
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Cysticercosis
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Charge Syndrome
Self-mutilation, Dysphagia OMIM:214800
Microphthalmia, Syndromic 1
Self-mutilation, Aggressive behavior OMIM:309800
Aromatase Excess Syndrome
OMIM:139300

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 Cyp19a1

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 Cyp19a1.

No publications found that use IMPC mice or data for Cyp19a1.

Order Mouse and ES Cells

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
Cyp19a1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Cyp19a1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Cyp19a1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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