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Gene: Npc1 MGI:1097712

Gene Summary

Name:

NPC intracellular cholesterol transporter 1

Synonyms:

C85354, D18Ertd723e, lcsd, A430089E03Rik, nmf164, D18Ertd139e

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	Allele	Zyg	Life Stage	P Value
increased startle reflex	Npc1^{tm1a(EUCOMM)Hmgu}	HET	Early adult	4.52×10^-05
increased monocyte cell number	Npc1^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.50×10^-05
decreased exploration in new environment	Npc1^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.60×10^-06
preweaning lethality, incomplete penetrance	Npc1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Skin	Wholemount images	heterozygote	100% (2 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)
Brain	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)
Hypothalamus	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)
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)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	homozygote	Not available
Embryo	N/A	heterozygote	0.0% (0 of 1)
Embryo	N/A	homozygote	0.0% (0 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	homozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	0.0% (0 of 1)
Heart	N/A	homozygote	Not available
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	homozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	0.0% (0 of 1)
Liver	N/A	homozygote	0.0% (0 of 1)
Lung	N/A	heterozygote	0.0% (0 of 1)
Lung	N/A	homozygote	Not available
Mandibular process	N/A	heterozygote	0.0% (0 of 1)
Mandibular process	N/A	homozygote	Not available
Maxillary process	N/A	heterozygote	0.0% (0 of 1)
Maxillary process	N/A	homozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	homozygote	Not available
Skin	N/A	heterozygote	0.0% (0 of 1)
Skin	N/A	homozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	0.0% (0 of 1)

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%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

MicroCT E18.5

Embryo reconstruction

1 Images

View images

Echo

M-Mode Images

28 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

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Adult LacZ

LacZ Images Wholemount

3 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Npc1 mutations

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

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

Human diseases associated with Npc1 (1 diseases)
Human diseases predicted to be associated with Npc1 (2440 diseases)

The table below shows human diseases associated to Npc1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Niemann-Pick Disease, Type C1		Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam c...	OMIM:257220

The table below shows human diseases predicted to be associated to Npc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste...	ORPHA:497764
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P...	OMIM:620378
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand...	OMIM:604484
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar...	OMIM:614895
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co...	ORPHA:401901
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Inability to walk, Chorea, Mental deterioration, Cerebral atrophy, Ax...	OMIM:617672
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem...	OMIM:614877
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Unsteady gait, Sen...	ORPHA:2932
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi...	OMIM:606483
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance	ORPHA:2274
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ...	OMIM:615185
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Gai...	OMIM:601098
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu...	OMIM:607250
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par...	ORPHA:216873
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Onion bulb formation, Distal sensory impairment	OMIM:616039
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal...	ORPHA:85292
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creati...	OMIM:208920
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Null Syndrome	Ataxia, Inability to walk, Abnormal cerebellum morphology, Optic atrophy, CNS hypomyelination, Di...	ORPHA:280234
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Mental deterioration	OMIM:610951
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myocl...	OMIM:615924
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity	OMIM:611105
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase...	OMIM:615703
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals...	OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Androgen Insensitivity Syndrome	Inguinal hernia, Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina...	OMIM:300068
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, S...	OMIM:145900
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, ...	OMIM:615362
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp...	ORPHA:101097
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene...	OMIM:607677
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysm...	OMIM:618093
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Abnormal mito...	ORPHA:543470
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impairment, Steppage...	OMIM:618279
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Sandhoff Disease, Adult Form	Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Mental deterioration, S...	ORPHA:309169
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Mental deterioration, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality ...	ORPHA:79262
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista...	OMIM:607731
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,...	OMIM:118200
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Ataxia, Frequent falls, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, S...	ORPHA:225154
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:180800
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Mic...	OMIM:614129
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
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
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Cerebral atrophy, Frontal lobe dementia, Axonal loss, Dementia, Gliosis, Gait di...	OMIM:221770
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Symmetric peripheral demyelination, Demyelinating motor neuropathy, ...	ORPHA:206594
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Mental deterioration, Gait ataxia, Loss of ambulation, CNS demyelination, Motor deterioration, Pe...	OMIM:249900
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai...	OMIM:609311
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Distal sen...	OMIM:616719
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In...	ORPHA:289548
Spinocerebellar Ataxia Type 25	Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Abnormal c...	ORPHA:101111
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic atrophy, Distal sensory ...	OMIM:615035
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:118220
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar a...	OMIM:604326
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Fumarase Deficiency	Necrotizing enterocolitis, Decreased fumarate hydratase activity, Polycythemia, Anteverted nares,...	OMIM:606812
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Distal senso...	ORPHA:99953
Huntington Disease-Like 2	Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia	ORPHA:98934
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ...	OMIM:311070
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Mucolipidosis Iv	Cerebellar atrophy, Corneal opacity, Cerebral dysmyelination, Abnormal abdomen morphology, Dyspla...	OMIM:252650
Rft1-Cdg	Hepatomegaly, Ataxia, Cerebral atrophy, Failure to thrive, Cerebral cortical atrophy	ORPHA:244310
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia, Intrauterine growth r...	OMIM:620270
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Impai...	ORPHA:251282
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Cerebral atrophy, Peripheral...	OMIM:604168
Urocanase Deficiency	Broad-based gait, Ataxia, Short stature, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ata...	OMIM:276880
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Impaired distal vibration sensation, Steppage gait, Impaired distal...	OMIM:610100
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,...	ORPHA:528
Ovarian Dysgenesis 10	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Weight loss, Gait ...	ORPHA:248111
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Somatic sensory dysfunction, Decreased number of large peripheral myelinated nerve fibers, Distal...	OMIM:615376
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Dementia, Tip-toe gait, Co...	ORPHA:2386
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Gait at...	ORPHA:101109
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Hypogonadism-Cataract Syndrome	Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti...	OMIM:240950
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Spermatogenic Failure 57	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i...	OMIM:619528
Spermatogenic Failure 50	Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619145
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto...	OMIM:213600
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Premature Ovarian Failure 8	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Impaired vibra...	ORPHA:99013
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r...	OMIM:607791
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage...	OMIM:301101
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spermatogenic Failure 32	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:619831
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Focal dyst...	OMIM:605361
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Ataxia, Microcephaly, Increased circulating gonado...	ORPHA:243
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Distal sensory impairment,...	OMIM:609260
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Krabbe Disease	Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Optic atrophy, Neurodegeneration, CNS demy...	OMIM:245200
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage...	OMIM:608340
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami...	ORPHA:282166
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Spermatogenic Failure 25	Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia	OMIM:617960
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception	ORPHA:231445
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration	OMIM:616187
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Hyperactivity, Broad-based gait, Short stature, Parkinsonism, Anorexia, Ag...	ORPHA:3077
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestatio...	ORPHA:79237
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Weight loss, Irritability, Bradykinesia, Deme...	OMIM:606438
Spermatogenic Failure 59	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619937
Spermatogenic Failure 73	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619878
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Depressed nasal bridge, Decreased activ...	OMIM:618378
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment	OMIM:607736
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s...	OMIM:301059
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Aggressiv...	OMIM:617225
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, ...	ORPHA:98764
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili...	ORPHA:66624
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Spinocerebellar Ataxia 42	Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Impaired ...	OMIM:607706
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking	OMIM:616684
Epilepsy, Progressive Myoclonic, 12	Ataxia, Dysmetria, Depression, Myoclonus, Difficulty walking, Attention deficit hyperactivity dis...	OMIM:619191
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Abnormal peripheral myelination, Increase...	ORPHA:168563
Huntington Disease-Like 1	Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, De...	OMIM:603218
Perrault Syndrome 1	Cerebellar atrophy, Ataxia, Increased circulating gonadotropin level, Primary amenorrhea, Gait at...	OMIM:233400
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Abnormal sperm head morphology, Cerebral atr...	ORPHA:320391
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Neuromyelitis Optica Spectrum Disorder	Somatic sensory dysfunction, Neuronal loss in central nervous system, Peripheral demyelination	ORPHA:71211
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Gait disturbance, Peripheral demyelination, Distal sensory impairment	ORPHA:99944
Huntington Disease	Caudate atrophy, Clonus, Chorea, Decreased body mass index, Abnormality of the sense of smell, Cl...	ORPHA:399
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Steppage gait,...	OMIM:605588
Ovarian Dysgenesis 4	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno...	OMIM:616185
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
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
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Short attention span, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dys...	OMIM:619028
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:604563
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:615486
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Ovarian Dysgenesis 8	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti...	OMIM:618187
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy	OMIM:615957
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu...	ORPHA:204
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Aarskog-Scott Syndrome	Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto...	OMIM:305400
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 14	Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen...	OMIM:615842
Charcot-Marie-Tooth Disease, Type 4J	Distal sensory impairment, Axonal loss, Peripheral hypomyelination, Gait disturbance, Onion bulb ...	OMIM:611228
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
49,Xyyyy Syndrome	Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Impulsivity, Incr...	ORPHA:99330
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Cerebral a...	ORPHA:412217
Dystonia 28, Childhood-Onset	Torticollis, Dystonia, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitiv...	OMIM:617284
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Mitochondrial hypertrophy, Decreased activity of mitochondrial comp...	OMIM:500013
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem...	ORPHA:454887
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista...	OMIM:608673
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive	OMIM:619651
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Spermatogenic Failure 20	Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility	OMIM:617593
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner...	OMIM:302800
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:615081
Diaminopentanuria	Neurodegeneration, Ataxia	OMIM:222350
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph...	ORPHA:2585
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
49,Xxxyy Syndrome	Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor...	ORPHA:261534
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand paresthesia, Hypoesthesia, Segmental peripheral demyelination/remyelination	OMIM:162500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen...	ORPHA:264580
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy, Dementia, Memor...	OMIM:614116
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Inability to walk, Sensory ataxia, Facial...	OMIM:618184
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:620196
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Optic atrophy, Abnormal mitochondrial morpholog...	OMIM:300438
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors	OMIM:159900
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Progressive neurologic deterioration, Corpus callosum...	OMIM:169500
Spinocerebellar Ataxia 17	Chorea, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Confusion, Parkinsonism, Depression, My...	OMIM:607136
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations, Neu...	OMIM:611721
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:95513
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:604367
Hartnup Disorder	Hyperactivity, Short stature, Hypertonia, Attention deficit hyperactivity disorder, Episodic atax...	OMIM:234500
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ...	OMIM:616269
Premature Ovarian Failure 17	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi...	OMIM:619146
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ...	OMIM:128235
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston...	ORPHA:98811
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Cerebellar calcifications, Parkinsonism, Chorea, Hand tremor, Depression, Atheto...	OMIM:615483
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility	OMIM:619672
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Abnormal mitochondrial shape, ...	ORPHA:17
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia...	OMIM:261630
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:615595
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure, X-Linked, 5	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A...	OMIM:301099
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,...	OMIM:617145
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro...	OMIM:301033
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Dysme...	ORPHA:79083
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis, Azoospermia...	OMIM:613724
Premature Ovarian Failure 16	Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat...	OMIM:618723
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration	OMIM:615555
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Parkinson Disease 22, Autosomal Dominant	Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Pa...	OMIM:616710
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ...	ORPHA:95512
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Dys...	ORPHA:2348
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa...	OMIM:607080
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,...	OMIM:302500
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Spastic tetraparesis, Progressive cerebellar ataxia, Dystonia, Failure to thrive	ORPHA:67046
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Ataxia, Dysmyelinating leukodystrophy, Optic atrophy, Dysmetria, Dysdiadochok...	OMIM:612319
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
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
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
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Increased cerebral lipofuscin, Myocl...	OMIM:610539
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss...	OMIM:137440
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigid...	OMIM:618090
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Peripher...	OMIM:605285
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v...	ORPHA:485421
Tuberculosis	Weight loss	ORPHA:3389
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se...	ORPHA:2410
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc...	OMIM:612526
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Growth delay, Dystonia, Ocul...	OMIM:612716
Charcot-Marie-Tooth Disease, Type 4B3	Distal sensory impairment, Gait disturbance, Brain atrophy, Loss of ambulation, Myelin outfolding...	OMIM:615284
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete...	ORPHA:240085
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:300511
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
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Limb dystonia, Parkinsonism, Depression, Gait at...	ORPHA:71517
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co...	OMIM:615157
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level...	OMIM:619938
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal...	OMIM:608709
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcorti...	OMIM:606159
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circula...	ORPHA:79240
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:91355
47,Xyy Syndrome	Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ...	ORPHA:8
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Increased circulating gonadotropin ...	ORPHA:163976
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Small for gestational age, Progressive neurologic deterioration, Parkinsonism, ...	OMIM:261640
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, Mental deterioration, Motor axon...	OMIM:615643
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame...	OMIM:615300
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Myotonic Dystrophy 2	Elevated circulating creatine kinase concentration, Oligozoospermia, Hypogonadism, Type II diabet...	OMIM:602668
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Pulmonary Blastoma	Weight loss	ORPHA:64741
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious...	OMIM:616222
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Ataxia, Tremor, Growth delay, Spasticity	OMIM:278780
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Short stature, Trem...	OMIM:610185
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Adult Krabbe Disease	Broad-based gait, Somatic sensory dysfunction, Ataxia, Abnormal medulla oblongata morphology, Pro...	ORPHA:206448
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Facial palsy, Impaired pain sensation, Impaired distal vibration sensation, Distal sensory impair...	OMIM:607684
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Babinski sign, Astrocytosis, Myoclonus, Dystonia, Neuronal loss in central nervous syst...	OMIM:600795
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Pseudohypoparathyroidism Type 1C	Calcinosis, Cerebral calcification, Hypergonadotropic hypogonadism, Decreased response to growth ...	ORPHA:79444
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Tremor, Vocal cord paralysis, Arthritis, Mitochondrial swell...	ORPHA:397744
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor ...	ORPHA:79263
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Ataxia, Decreased response to growth hormone stimulation test, Small for gestational age, Microce...	ORPHA:3363
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Joubert Syndrome 26	Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation test, Recurrent up...	OMIM:616784
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromand...	ORPHA:521406
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Mitochondrial ...	OMIM:619518
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Limb atax...	OMIM:213200
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi...	OMIM:612126
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia,...	ORPHA:240103
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine...	ORPHA:423275
Premature Ovarian Failure 14	Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ...	OMIM:618014
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Abnormal natura...	OMIM:613101
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment	OMIM:614018
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Ataxia, Degeneration of the lateral corti...	OMIM:604360
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulati...	OMIM:617872
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea	OMIM:616946
Charcot-Marie-Tooth Disease, Type 4D	Segmental peripheral demyelination/remyelination, Impaired distal proprioception, Unsteady gait, ...	OMIM:601455
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal...	OMIM:300623
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Heterochromia iridis, Ataxia, Portal hypertension, Cerebral ...	OMIM:609136
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Omphalocele, Small for gestational age, Elevated circulating luteinizing hormon...	OMIM:618419
Ovarian Dysgenesis 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Hepatosplenomeg...	ORPHA:2590
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Impaire...	OMIM:609033
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Truncal ataxia, Limb ataxia, Gait ataxia, Cogwheel rigidity,...	OMIM:607346
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Microcephaly, Cryptorchidism, Increased circulating ...	ORPHA:163971
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte...	OMIM:256731
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental...	ORPHA:542310
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Short stature, Tre...	ORPHA:1170
Mitochondrial Dna Depletion Syndrome 18	Clonus, Microcytic anemia, Axonal degeneration, Tongue fasciculations, Failure to thrive	OMIM:618811
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Cognitive impairment, ...	OMIM:614487
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Thromboc...	OMIM:222700
Multiple Sulfatase Deficiency	Cerebellar atrophy, Hepatomegaly, Ataxia, Anteverted nares, Corneal opacity, Splenomegaly, Cerebr...	OMIM:272200
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Myoclonus, Dystonia	ORPHA:139406
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ...	OMIM:614436
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat...	OMIM:270550
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Precocious Puberty, Central, 1	Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti...	OMIM:176400
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Failure to thrive, Ataxia	OMIM:618951
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Mitochondrial hypertrophy, Facial palsy, Elevated circulating creatine kinase conc...	OMIM:602541
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ...	ORPHA:397946
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia, Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dy...	OMIM:618317
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Elevated circulating creatine kinase concentration, Distal sensory impairment, Axonal loss, Stepp...	OMIM:614455
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Spermatogenic Failure 42	Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic...	OMIM:618745
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Gait disturbance, Difficulty walking, Elevated creatine kinase af...	ORPHA:352470
Pseudohypoparathyroidism Type 1A	Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin...	ORPHA:79443
Abetalipoproteinemia	CNS demyelination, Ataxia, Peripheral demyelination, Acanthocytosis	OMIM:200100
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Somatic sensory dysfunction, Steppage gai...	OMIM:600882
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Isaacs Syndrome	Fasciculations, Distal sensory impairment, Weight loss	ORPHA:84142
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A...	OMIM:614831
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ...	ORPHA:228360
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob...	OMIM:300869
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing	OMIM:619561
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology	OMIM:605253
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Depression, Dementia, Dystonia, Spasticit...	OMIM:615889
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia, Polycystic ovaries, Hepatic steat...	ORPHA:79084
Hsd10 Disease	Short attention span, Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Ga...	ORPHA:391417
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Increased...	OMIM:617916
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ...	ORPHA:309246
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcephaly, Microcytic anemia, Hypothyroid...	OMIM:619013
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation...	ORPHA:309854
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Flexion contracture, Dysmetria, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:212065
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Microcephaly, A...	OMIM:300148
Cystic Echinococcosis	Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Elevated ...	ORPHA:400
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Abnormal lung lobation, Gonadotropi...	ORPHA:672
4H Leukodystrophy	Cerebellar atrophy, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased r...	ORPHA:289494
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Apnea, Brushfield spots, Cryptorchidism,...	OMIM:214110
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga...	OMIM:616127
Dpm1-Cdg	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated circulating cre...	ORPHA:79322
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Short...	OMIM:312080
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria...	OMIM:618387
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability...	ORPHA:3095
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Chroni...	OMIM:620356
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depressi...	OMIM:619738
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Obsessive-...	OMIM:617665
19P13.12 Microdeletion Syndrome	Hyperactivity, Hypospadias, Aplasia/Hypoplasia of the cerebellar vermis, Precocious puberty, Cryp...	ORPHA:254346
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat...	OMIM:275400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Hepatomegaly, Clonus, Poor coordination, Abnormal pyramidal sign, S...	OMIM:238970
Severe Neurodegenerative Syndrome With Lipodystrophy	Limb dystonia, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination...	ORPHA:363400
Sandhoff Disease	Splenomegaly, Hepatomegaly, Failure to thrive, Ataxia	ORPHA:796
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Delirium	ORPHA:208441
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Isochromosomy Yq	Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Microcephaly, Overweight, Self-mutilation,...	ORPHA:457240
Late-Infantile/Juvenile Krabbe Disease	Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati...	ORPHA:206443
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity	OMIM:300983
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet...	OMIM:615381
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	ORPHA:280365
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cataract, Anteverted nares, Splenomegaly, Jaundice, ...	OMIM:251290
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu...	ORPHA:3044
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac...	ORPHA:298
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depr...	ORPHA:254881
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Spasticity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Agenesis of corpus callosum, Intrahepatic biliary dysgenesis, Hepa...	OMIM:614866
Charcot-Marie-Tooth Disease, Type 4B1	Myelin outfoldings, Irregular myelin loops, Facial palsy, Distal sensory impairment	OMIM:601382
Lead Poisoning	Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Decreased female libido, Sm...	ORPHA:330015
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Microcephaly, Non-obstructive azoospermia, Cryptorc...	ORPHA:2232
Congenital Disorder Of Glycosylation, Type In	Hepatomegaly, Ataxia, Cerebral atrophy, Myoclonus, Spasticity, Failure to thrive	OMIM:612015
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism...	ORPHA:91
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating...	ORPHA:314478
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe...	OMIM:619470
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy...	ORPHA:240094
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola...	ORPHA:747
Bardet-Biedl Syndrome 19	External genital hypoplasia, Obesity, Hypogonadism, Hypoplasia of the corpus callosum, Hepatic st...	OMIM:615996
Spinocerebellar Ataxia 50	Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Myoclonus, Head tremor, Apraxia, Memory impa...	OMIM:620158
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Spermatogenic Failure 29	Non-obstructive azoospermia, Male infertility, Immotile sperm	OMIM:618091
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
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Cataract, Small for gestational age, Prominent nasa...	OMIM:214150
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypomagnesemia, Cerebral ...	OMIM:219800
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par...	OMIM:606693
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
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
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Thr...	OMIM:615010
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Inguinal hern...	OMIM:261550
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
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Endocardial Fibroelastosis	Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism	ORPHA:2022
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Restrictive ventilatory defect, Increased mitochondrial number, Mildly elevated creatine kinase	ORPHA:457050
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis, Frontotemporal cerebral atrophy, Abnormality of extrapyramidal motor function, Fasc...	ORPHA:275864
Spastic Paraparesis And Deafness	Tremor, Short stature, Spastic paraparesis	OMIM:312910
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Weight loss, Brady...	OMIM:168605
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic a...	OMIM:271245
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Ataxia, Abnormal reproductive system morphology, Chorea, Respiratory failure, Abnormal cerebral m...	ORPHA:70472
Satoyoshi Syndrome	Microcephaly, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, ...	ORPHA:3130
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Short stature, Impulsivity, Abnormality of coordination, Tremor, Involuntary movements, R...	ORPHA:442835
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:247585
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Mental deterioration, Dysmetria, Pont...	ORPHA:171629
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona...	ORPHA:90103
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Impaired proprioception, Dysm...	ORPHA:101
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane...	OMIM:151660
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain...	OMIM:608703
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra...	OMIM:616267
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Barth Syndrome	Abnormal mitochondrial morphology, Abnormality of neutrophils	ORPHA:111
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Se...	ORPHA:3085
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Somatic sensory dysfunction, Metrorrhagia, Elevated carcinoma antigen 1...	ORPHA:370348
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypothyroidism, Hepatic steatosis, Hepatomegaly, Delayed puberty, Anemia, Irregular menstruation,...	ORPHA:79259
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Diethylstilbestrol Syndrome	Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestatio...	ORPHA:1916
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:98793
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ...	OMIM:300423
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:98754
Hemophagocytic Lymphohistiocytosis, Familial, 1	Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H...	OMIM:267700
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Mitochondrial Complex I Deficiency, Nuclear Type 29	Dyspnea, Decreased activity of mitochondrial complex I, Hyperalaninemia, Failure to thrive, Mitoc...	OMIM:618250
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:177904
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit...	ORPHA:3000
Müllerian Aplasia And Hyperandrogenism	Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm...	ORPHA:247768
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia	ORPHA:100024
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati...	OMIM:269700
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, R...	OMIM:613280
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101075
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Ataxia, Slurred speech, Opacification of the corneal stroma, Dystonia	OMIM:230650
Gaucher Disease, Type Iii	Hepatomegaly, Ataxia, Short stature, Progressive neurologic deterioration, Splenomegaly, Depressi...	OMIM:231000
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo...	OMIM:183090
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te...	ORPHA:177901
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Manganese Poisoning	Dystonia, Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, ...	ORPHA:306682
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Acute hepatic failure, Failure to thrive, Hepatomegaly, Ataxia, Elevated hepa...	OMIM:203700
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Spinocerebellar Ataxia 21	Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Impulsivity, Postural tremor, Limb ataxia, G...	OMIM:607454
Pituicytoma	Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis...	ORPHA:251623
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Cerebellar cyst	OMIM:601076
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Inability to walk, Wide nasal bridge, Astrocytosis, Difficulty walking, Slender build	OMIM:611087
Cimdag Syndrome	Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Lipodystrophy, Microcephaly, Microvesicular h...	OMIM:619273
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur...	ORPHA:363717
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impa...	OMIM:603472
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Reduced radioactive iodine uptake...	ORPHA:90674
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterior...	OMIM:617013
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Lipodystrophy, Congenital Generalized, Type 1	Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati...	OMIM:608594
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Somatic sensory...	ORPHA:101082
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Cerebellar atrophy, Splenomegaly, Cere...	OMIM:610333
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens...	OMIM:600363
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Isolated Growth Hormone Deficiency, Type Ib	Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon...	OMIM:612781
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ...	OMIM:603553
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Ankle clon...	OMIM:617435
African Trypanosomiasis	Impaired proprioception, Choreoathetosis, Hepatomegaly, Abnormality of the endocrine system, Lymp...	ORPHA:3385
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination, Distal sensory impairment	OMIM:616287
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical atrophy, Ce...	ORPHA:33445
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Depression, Hemiparesis, Abnormality of the liver, Spasticity, Intention tremor	OMIM:614307
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno...	OMIM:602390
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperacti...	OMIM:619556
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic h...	ORPHA:100083
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci...	OMIM:610717
Isolated Splenogonadal Fusion	Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Elevated circulating alpha...	ORPHA:457083
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Hepatomegaly, Dystonia, Ataxia, Apnea, Babinski sign, Optic atrophy, Respirat...	OMIM:618226
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, Gait dist...	OMIM:210000
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Bardet-Biedl Syndrome	Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism, Hepatic fibr...	ORPHA:110
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,...	OMIM:277900
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Microcephaly, Splenomegaly, Flexion contracture, Cerebral atrophy, Hypogonadism, Jo...	OMIM:608540
Septopreoptic Holoprosencephaly	Impulsivity, Megalencephaly, Precocious puberty, Hypoplasia of the pons, Microcephaly, Perisylvia...	ORPHA:280195
Seckel Syndrome 7	Hypoplasia of the uterus, Microcephaly, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Ataxia, Elevated...	OMIM:615673
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re...	OMIM:608971
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai...	OMIM:117360
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, ...	OMIM:233910
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston...	ORPHA:300605
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Elevated circulating creatinine concentration, L...	OMIM:616733
Charcot-Marie-Tooth Disease Type 4A	Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Ina...	ORPHA:99948
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia, Short stature	ORPHA:1368
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance, Impaired pain sensation	ORPHA:101078
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Hypertriglyceridemia, Ataxia, Impaired proprioception, Dysmetria, Clumsiness,...	OMIM:277460
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa...	ORPHA:101077
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Limb myoclonus, Truncal ataxia, Limb ataxia, Dysmetria, Hand tremor, Tongu...	ORPHA:276198
Saccharopinuria	Short stature, Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment, Cognitive impair...	ORPHA:3124
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Hypertonia, Hemophagocytosis,...	ORPHA:79477
Mccune-Albright Syndrome	Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve...	ORPHA:562
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Crigler-Najjar Syndrome Type 1	Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro...	ORPHA:79234
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu...	ORPHA:347
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape, Respiratory insufficiency	OMIM:610773
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre...	ORPHA:3464
Spermatogenic Failure 17	Male infertility	OMIM:617214
Farber Disease	Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis, Respirat...	ORPHA:333
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural ...	ORPHA:98805
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia...	OMIM:601853
Superficial Siderosis	Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Anisocoria, Progressive gait ...	ORPHA:247245
Ataxia-Telangiectasia	Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive, Diabetes mell...	ORPHA:100
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Peripheral axonal neuropathy, Cat...	ORPHA:90324
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach...	ORPHA:83469
Metachromatic Leukodystrophy	Ataxia, Chorea, Optic atrophy, Gait disturbance, Mental deterioration, Peripheral demyelination	OMIM:250100
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para...	OMIM:300055
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s...	ORPHA:93952
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Decreased serum testosterone concentrati...	ORPHA:2959
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Short stature, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead...	OMIM:256810
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Failure to thrive in infan...	ORPHA:263501
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Somatic sensory dysfunction, Demyelinating sensory neuropathy, Opti...	ORPHA:101085
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Hypercholesterolemia, Impaired pain sensation...	ORPHA:819
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dyst...	OMIM:618224
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,...	OMIM:209950
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Microcephaly, Thrombocytopenia, Hypoplasia of the ute...	OMIM:619151
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive	OMIM:230350
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate amino...	OMIM:617253
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Male infertility, Hepatomegaly, Primary t...	ORPHA:85450
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Classic Galactosemia	Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, D...	ORPHA:79239
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Cockayne Syndrome B	Abnormal peripheral myelination, Tremor, Microcornea, Hypoplasia of the iris, Hepatomegaly, Ataxi...	OMIM:133540
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Small for gestational age, Eleva...	ORPHA:79333
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, ...	ORPHA:329284
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Unsteady gait, Optic atrophy, Cerebral atrophy, Gliosis, Neurodegener...	OMIM:256600
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Impaired temperature sensation, Xerostomia, Clitoral ...	ORPHA:398079
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Partial agenesis of the corpus callosum, ...	OMIM:270400
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Degeneration of anterior horn cells, Dementia, Tongue fasciculations, Difficulty walking,...	OMIM:159950
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferr...	OMIM:606069
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C...	ORPHA:54251
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Axonal degeneration, Diaphragmatic par...	OMIM:604320
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive	ORPHA:477673
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege...	OMIM:218000
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Oligomenor...	OMIM:613877
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Progressive extrapyramidal muscular rigidity, Impulsivity, Akinesia, Tremor, Park...	ORPHA:240071
Systemic Primary Carnitine Deficiency	Elevated hepatic transaminase, Hepatomegaly, Clumsiness	ORPHA:158
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
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 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Elevated circulating creatine kinase concentration, Decreased activity of mit...	OMIM:616239
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Tremor, Microvesicular hepatic steatosis, Partial agenesis of the c...	OMIM:220111
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic...	ORPHA:330050
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced radioactive iodine uptake, Reduced circulating prolactin concentration, Overweight, Eleva...	ORPHA:99832
Laron Syndrome	Hypoplasia of penis, Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Delayed ...	ORPHA:633
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno...	OMIM:613313
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Decreased activity of mitochondrial ATP synthase complex...	OMIM:609060
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Neuroferritinopathy	Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s...	ORPHA:157846
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Abno...	ORPHA:411634
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentrati...	OMIM:614867
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My...	OMIM:612736
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based...	OMIM:615490
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concen...	OMIM:619405
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig...	ORPHA:98759
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Ataxia, Splenomegaly, Cerebral at...	OMIM:613489
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Akinesia, Cerebral atrophy, Bradykinesia, Dementia, Neurodegeneration, Mental...	OMIM:300894
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Dystonia, Confusion, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign,...	OMIM:607483
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr...	OMIM:617810
Glutaric Acidemia I	Hepatomegaly, Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Sym...	OMIM:231670
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Cataract, Anteverted nares, Neo...	OMIM:214100
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera...	ORPHA:221091
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem...	ORPHA:53351
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Hypophosphatemia, Abnormal cornea morphology, Hypokalemia, Corn...	ORPHA:411629
Lathosterolosis	Hepatomegaly, Cataract, Anteverted nares, Intrahepatic cholestasis, Bulbous nose, Anisopoikilocyt...	ORPHA:46059
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Poems Syndrome	Diabetes mellitus, Lipodystrophy, Polycythemia, Thrombocytosis, Respiratory insufficiency due to ...	ORPHA:2905
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Parkinson Disease 14, Autosomal Recessive	Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Depression, Clumsiness, Up...	OMIM:612953
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Hypouricemia, Lens luxation, Ectopia lentis, Spastic tetraplegia, Cereb...	OMIM:252160
Orthostatic Hypotension 1	Hypomagnesemia, Retrograde ejaculation, Reduced circulating prolactin concentration, Increased bl...	OMIM:223360
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, ...	ORPHA:683
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Ataxia, Cryptorchidis...	OMIM:610198
Alg9-Cdg	Cerebellar atrophy, Hepatomegaly, Omphalocele, Lipodystrophy, Hepatic cysts, Asthma, Delayed myel...	ORPHA:79328
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula...	ORPHA:90117
Multiple Symmetric Lipomatosis	Hepatomegaly, Paresthesia, Gait disturbance	ORPHA:2398
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo...	ORPHA:91351
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase, Amenorrhea	OMIM:600705
Cockayne Syndrome A	Cerebellar atrophy, Hepatomegaly, Slender nose, Cataract, Ataxia, Abnormal peripheral myelination...	OMIM:216400
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Microphthalmia, Syndromic 9	Inguinal hernia, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Cryptorchidism, ...	OMIM:601186
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Cataract, Small for gestational age, Ataxia, Narrow nasal ridge, Prominent no...	OMIM:251300
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Short stature...	OMIM:300957
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Failure to thrive, Absence of CD8-positive T cells	OMIM:269840
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Pleural effusion, Ascites, ...	ORPHA:314473
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Short stature, Tremor, Babinski sign, Dysm...	OMIM:607694
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk...	OMIM:609270
46,Xy Sex Reversal 5	Sex reversal, Elevated circulating follicle stimulating hormone level	OMIM:613080
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Steatorrhea, Hepatic failu...	ORPHA:75233
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Basal ganglia calcification, Hypoalbuminemia, Hepatic fibrosis, Micropeni...	OMIM:619487
Hurler Syndrome	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Corneal opacity, Broad nasal tip, Splenom...	OMIM:607014
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani...	OMIM:620011
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Babinski sign, Decreased activity of mitochondrial complex IV, Br...	OMIM:619063
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Ataxia, Splenomegaly, Abnormal pyramidal sign, Atheto...	ORPHA:834
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Primary Ciliary Dyskinesia	Male infertility, Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polypo...	ORPHA:244
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Aggressive behavior, Respiratory insufficiency, Hypogonadism, Dysphagia, Diabet...	ORPHA:97229
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Failure to thrive, Ataxia, Apnea, Segmental peripheral demyelination/remyelination,...	ORPHA:255210
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Demyelinating p...	OMIM:616263
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ...	OMIM:618718
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp...	OMIM:301045
Schimke Immunoosseous Dysplasia	Waddling gait, Pancytopenia, Small for gestational age, Depressed nasal bridge, Bilateral cryptor...	OMIM:242900
Pallister-Hall-Like Syndrome	Microcephaly, Chiari type I malformation, Pulmonary hypoplasia, Hypothalamic hamartoma, Micropeni...	OMIM:241800
Classic Phenylketonuria	Tremor, Paraplegia, Depression, Growth delay, Self-injurious behavior, Hypertonia, Hemiplegia, At...	ORPHA:79254
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Ataxia, Microcephaly, Hypoplasia of the pons, Respiratory insufficiency due t...	OMIM:618276
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	ORPHA:79086
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Anosmia, Bronchiectasis, Immotile...	OMIM:244400
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Molybdenum Cofactor Deficiency, Complementation Group A	Hypouricemia, Spastic tetraparesis, Lens luxation, Ectopia lentis, Spastic tetraplegia, Cerebral ...	OMIM:252150
Carney Complex	Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ...	ORPHA:1359
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Microcytic anemia, Elevated circula...	OMIM:618805
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Slender build, Cachexia, Weight loss	OMIM:613662
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Ciliary Dyskinesia, Primary, 37	Female infertility, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea	OMIM:617577
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol...	OMIM:256850
Short Stature-Wormian Bones-Dextrocardia Syndrome	Cryptorchidism, Anterior hypopituitarism, Camptodactyly of finger, Midshaft hypospadias	ORPHA:2863
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Gait ataxia, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, Agenesis of corpus callosum, Hepatic steatosis, Accessory splee...	OMIM:619418
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Severe demyelination of the white matter, Megaloblastic ...	ORPHA:79282
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly, Abnormal pyramidal sign,...	ORPHA:93476
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Dysplastic corpus callosum, Hydrocele testis, Cerebellar hypoplasia, Hypocholestero...	OMIM:618810
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bra...	ORPHA:70594
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor,...	OMIM:615491
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai...	OMIM:607831
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resist...	OMIM:268020
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:42642
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Impaired dista...	OMIM:618400
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Decreased response to growth hormone sti...	OMIM:609757
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr...	ORPHA:100070
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Impaired temperature sensation, Flexion contracture, ...	ORPHA:398069
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,...	ORPHA:48818
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t...	ORPHA:273
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Cardiomegaly, Poor coordination, Optic atrophy, S...	ORPHA:391428
Erythrokeratodermia Variabilis	Diabetes mellitus, Microcephaly, Abnormal testis morphology, Weight loss	ORPHA:317
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Abnormal pyramidal sign, Hypertonia, Otitis media, Aspiration pneumoni...	ORPHA:581
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Microcephaly,...	OMIM:210900
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Hypertonia, Leukodystrophy, Otitis media, Juvenile cataract, Hepatic steatosis, Iris colo...	OMIM:619475
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Hypergonadotropic hypogonadism, Hypoesthesia, Dysplastic corpus cal...	OMIM:619737
Boomerang Dysplasia	Aplasia/Hypoplasia of the lungs, Cryptorchidism, Omphalocele, Decreased response to growth hormon...	ORPHA:1263
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B...	OMIM:257200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Dystonia, Splenomegaly, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Neutrope...	ORPHA:79312
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,...	ORPHA:36387
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,...	ORPHA:466768
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Ataxia, Corneal opacity, Impaired pain sensation,...	ORPHA:1532
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Corneal opacity, Large for gestational age, Respiratory insufficiency, Microcornea	ORPHA:2432
Pelizaeus-Merzbacher Disease, Classic Form	Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet...	ORPHA:280219
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Spinocerebellar Ataxia Type 32	Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy	ORPHA:276183
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Facial palsy, Abnormal brainstem MRI signal intensity, Inability to wa...	ORPHA:258
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab...	OMIM:194072
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Hyperaldosteronism, ...	ORPHA:199343
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Distal sensory impairment	OMIM:616155
Rhabdoid Tumor	Cerebral palsy, Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Hemip...	ORPHA:69077
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Cryptorchidism, Decreased testicular size, Abnormality of the sense of smell	OMIM:146110
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Vaginal neoplasm, Pelvic mass, Reduced C-peptide level, Weight lo...	ORPHA:2126
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Increased circulating surfacta...	ORPHA:60025
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance	ORPHA:99014
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Growth delay, Cerebellar hypoplasia, Dysphagi...	OMIM:619422
Bloom Syndrome	Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature...	ORPHA:125
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	ORPHA:42
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Carpenter Syndrome 1	Depressed nasal bridge, Cryptorchidism, Optic atrophy, Obesity, Cerebral atrophy, Microcornea, Po...	OMIM:201000
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Hepatomegaly, Respiratory distress, Ataxia, Microcephaly, Hyperammonemia, Hyp...	ORPHA:254913
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Oc...	OMIM:612582
Chronic Hiccup	Weight loss	ORPHA:396
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Microcephaly 20, Primary, Autosomal Recessive	Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the uterus, Small cereb...	OMIM:617914
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Fasciculations	ORPHA:65684
Erdheim-Chester Disease	Polydipsia, Hypogonadotropic hypogonadism, Ataxia, Retroperitoneal fibrosis, Abnormal cerebellum ...	ORPHA:35687
Peroxisome Biogenesis Disorder 9B	Cataract, Ataxia, Total anosmia, Anosmia, Elevated circulating phytanic acid concentration	OMIM:614879
Brachyolmia Type 1, Toledo Type	Gait disturbance, Opacification of the corneal stroma	OMIM:271630
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g...	ORPHA:411602
Mucopolysaccharidosis Type 6	Sinusitis, Thick nasal alae, Splenomegaly, Recurrent upper respiratory tract infections, Opacific...	ORPHA:583
Cockayne Syndrome	Progressive gait ataxia, Hypertonia, Gliosis, Lentiglobus, Intention tremor, Hepatomegaly, Ataxia...	ORPHA:191
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	OMIM:176270
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Micropenis, Failure to thrive	OMIM:613861
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Decreased na...	OMIM:620197
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,...	ORPHA:88628
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Tay-Sachs Disease	Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Hepatospleno...	ORPHA:845
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Anosmia, Distal sens...	OMIM:601152
Moynahan Syndrome	Hypogonadism, Cachexia, Microcephaly	ORPHA:2574
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Dystonia, Parkinsonism, Rigidity, Mental deterioration, Depression, Bradykinesia,...	OMIM:168601
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Impaired pain sensation, Abnormality of the thyroid gland, S...	OMIM:182290
Refsum Disease	Cataract, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Anosmia, Abnormal pyramidal sign, Respira...	ORPHA:773
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Ataxia, Decreased activity of mitochondrial respiratory chain...	OMIM:614299
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi...	ORPHA:167
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, CNS demyeli...	OMIM:264470
Macrocephaly-Intellectual Disability-Autism Syndrome	Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention de...	ORPHA:210548
Refsum Disease, Classic	Somatic sensory dysfunction, Cataract, Ataxia, Cardiomegaly, Anosmia, Elevated circulating phytan...	OMIM:266500
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Short stature, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomoto...	OMIM:612438
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Amoebiasis Due To Free-Living Amoebae	Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal midbrain morphology, Sinusi...	ORPHA:68
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Granuloma, Hepatic fibrosis, Hemopha...	OMIM:619858
Cutis Laxa, Autosomal Recessive, Type Iiia	Cataract, Narrow nasal ridge, Cryptorchidism, Low plasma citrulline, Hyperammonemia, Athetosis, C...	OMIM:219150
Trichothiodystrophy 5, Nonphotosensitive	Microcephaly, Gait ataxia, Progressive microcephaly, Cerebellar hypoplasia, Global brain atrophy,...	OMIM:300953
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A...	ORPHA:909
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Cryptorchidism, Hemiplegia/hemiparesis, Anosmia, O...	ORPHA:3157
Combined Oxidative Phosphorylation Deficiency 18	Increased mitochondrial number, Macrocytic anemia, Tremor, Dysmetria, Decreased activity of mitoc...	OMIM:615578
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski ...	OMIM:610217
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Cryptorchidism, Anosmia, Hyposmia, Agenesis of corpus callosum, Iris coloboma	OMIM:147950
Microcephaly, Amish Type	Hepatomegaly, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Myoclonus, Failure to thrive, ...	OMIM:607196
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Reduced natural killer cell ac...	ORPHA:540
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar hyperhidr...	OMIM:610644
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom...	ORPHA:227510
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ataxia, Depressed nasal bridge...	OMIM:608799
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Hyperactivity, Short attention span, Short stature, Aggressive behavior, Tremor, At...	OMIM:618342
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentrati...	OMIM:619048
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Trisomy X	Cognitive impairment, Tremor, Attention deficit hyperactivity disorder, Depression	ORPHA:3375
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Spastic Paraplegia 9B, Autosomal Recessive	Short stature, Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Te...	OMIM:616586
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,...	OMIM:128100
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Foot osteomyelitis, Cataract, Osteomyelitis, Impaired ...	OMIM:162400
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam c...	OMIM:257220
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Gait ataxia, Anisocoria, Tongue fasciculations, Head t...	ORPHA:99949
Galactosemia I	Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Bardet-Biedl Syndrome 1	Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Asthma, Biliary tract abnormality, Abn...	OMIM:209900
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Chronic noninfectious...	ORPHA:97287
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hepatomegaly, Respiratory distress, Increased serum pyruvate, Depressed nasal...	OMIM:604377
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Microcephaly, Cryptorchidism, Dysphagia, Failure to ...	OMIM:618958
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Dandy-Walker malformation, Abnorm...	ORPHA:3032
Grfoma	Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase...	ORPHA:97261
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukopenia, Failur...	ORPHA:33355
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Microcephaly, Elevated circulating acylcarnitine concentration, Failure to ...	ORPHA:26792
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment	OMIM:607876
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Depression, Memory impairmen...	ORPHA:79095
Atypical Werner Syndrome	Fasting hyperinsulinemia, Abnormality of the pulmonary artery, Hepatic steatosis, Premature ovari...	ORPHA:79474
Ocular Cystinosis	Corneal crystals	ORPHA:411641
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane...	OMIM:245900
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Ataxia, Decreased liver fu...	OMIM:246900
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Gorlin Syndrome	Cataract, Cryptorchidism, Wide nasal bridge, Abnormality of the sense of smell, Iris coloboma	ORPHA:377
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Microcephaly, Leukocytosis, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Azot...	OMIM:619321
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Abnormality of pai...	ORPHA:544254
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ...	ORPHA:369
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Ataxia, Short stature, Tremor, Abnormal pyramidal sign, Dysmetria, ...	OMIM:614381
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accum...	OMIM:261515
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Spasticity, Dystonia	ORPHA:77260
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Elevated circulating creatine kinase co...	OMIM:301056
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Bilateral basal ganglia lesions, Hypoplasia of penis, Ataxia, Bila...	ORPHA:66634
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Dystonia, Hemiplegia/hemiparesis, Chorea, Hyperammonemia, Anemia, Choreoathetosis, ...	ORPHA:289916
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Delayed peripheral myelination, Unsteady gait, Obes...	ORPHA:464282
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsuline...	ORPHA:2849
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Christianson Syndrome	Cerebellar atrophy, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the ce...	ORPHA:85278
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:619386
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ...	ORPHA:98794
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Micropeni...	ORPHA:363528
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Progressive neurologic deterioration, Tremor, Hypertonia, Gait disturbance, Aplasi...	ORPHA:1192
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Premature ovarian insufficiency, Hypospadias, Decreased response t...	ORPHA:96179
Meckel Syndrome 12	Agenesis of cerebellar vermis, Microcephaly, Hypoplasia of the uterus, Cerebellar hypoplasia, Art...	OMIM:616258
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Young-Onset Parkinson Disease	Restless legs, Short attention span, Impulsivity, Tremor, Rigidity, Depression, Frontal lobe deme...	ORPHA:2828
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating...	ORPHA:64
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Streak ovary, Hypospadias, Absent septum pellucidum, Cryptorchidism, Dysplastic corp...	OMIM:618820
Supranuclear Palsy, Progressive, 1	Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, ...	OMIM:601104
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U...	ORPHA:458803
Rhizomelic Chondrodysplasia Punctata, Type 2	Decreased circulating plasmalogen concentration, Failure to thrive	OMIM:222765
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment	ORPHA:820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Axonal degeneration, Elevated circulating creatine kinase concentration	OMIM:618138
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo...	OMIM:618877
Mevalonic Aciduria	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	OMIM:610377
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the...	ORPHA:646
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le...	ORPHA:90791
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Bilateral cryptorchidism, Asthma, Obesity, M...	OMIM:619471
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Truncal titubation, Abnormal cerebellum morphology, Ba...	OMIM:610532
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Osteomyelitis, Keratitis, Corneal scarring, Corneal ulceration, Abnormal auto...	OMIM:256800
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Abnormal repetiti...	OMIM:619092
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia, Anosmia, Obesity, Hyposmia	OMIM:617885
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait disturbanc...	ORPHA:216866
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Compulsive behaviors, Abnormal repetitive mannerisms, Hyponat...	ORPHA:534
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating branched chain amino ac...	ORPHA:2394
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Elevated hepatic transamina...	ORPHA:329178
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Ataxia, Abnormality of neutrophils, Splen...	ORPHA:381
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Distal sensory ...	OMIM:616505
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc...	OMIM:618060
Lathosterolosis	Elevated hepatic transaminase, Cataract, Anteverted nares, Bilobate gallbladder, Increased mean p...	OMIM:607330
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy	OMIM:613909
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi...	ORPHA:280679
Harel-Yoon Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Corneal opacity, Inability to walk, Opt...	OMIM:617183
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga...	OMIM:615530
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Thromboc...	ORPHA:158048
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Chediak-Higashi Syndrome	Tremor, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Iris hypopigmentation,...	OMIM:214500
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Impaired vibratory sensation, Pain insensitivity, Recurrent skin infections, Impaired temperature...	OMIM:616488
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to t...	OMIM:266510
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Generalized dystonia, Apnea, Cerebral atrophy, Decreased activity of mitochondrial ...	OMIM:618235
Galactose Mutarotase Deficiency	Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive	ORPHA:570422
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Inability to walk, Babinski sign, Cerebel...	OMIM:616354
Indifference To Pain, Congenital, Autosomal Recessive	Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Anosmia, Abnormal ne...	OMIM:243000
Gm1 Gangliosidosis	Generalized dystonia, Ataxia, Depressed nasal bridge, Corneal opacity, Broad nasal tip, Tremor, S...	ORPHA:354
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Microcephaly, Decreased response to growth hormone stimulation test, De...	OMIM:615866
Barth Syndrome	Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, Gait distur...	OMIM:302060
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop...	OMIM:604213
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot...	OMIM:188400
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hypopar...	ORPHA:199299
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina...	ORPHA:254930
Coccidioidomycosis	Respiratory distress, Abnormal sperm morphology, Pneumonia, Eosinophilia, Abscess, Abnormality of...	ORPHA:228123
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Bangstad Syndrome	Ataxia, Microcephaly, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries,...	ORPHA:1227
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Distal sensory impairment	ORPHA:488650
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent ph...	ORPHA:47612
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypocalcem...	OMIM:606407
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c...	ORPHA:361
Mosaic Trisomy 1	Hepatic agenesis, Cerebellar vermis hypoplasia, Depressed nasal bridge, Wide nasal bridge, Latera...	ORPHA:1692
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dys...	OMIM:168600
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Elevated hemoglobin A1c, Abnormality of the sense of smell, Cerebellar hypoplasia, Dyston...	OMIM:616113
Joubert Syndrome 37	Hepatomegaly, Cerebellar vermis hypoplasia, Cryptorchidism, Obesity, Hypoplasia of the corpus cal...	OMIM:619185
Holoprosencephaly	Hyponatremia, Aplasia/Hypoplasia involving the nose, Failure to thrive in infancy, Choanal atresi...	ORPHA:2162
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Dysplastic corpus callosum,...	OMIM:620135
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration	OMIM:162100
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ...	ORPHA:890
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Decreased response to growth hormone stimulation test, Microcephaly, Abnormal...	OMIM:618347
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Inguinal hernia, Delayed CNS myelination, Hypospadias, Decrease...	OMIM:601808
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,...	OMIM:620211
Hyperostosis Cranialis Interna	Facial palsy, Anosmia, Optic atrophy, Chiari type I malformation, Hyposmia	OMIM:144755
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G...	OMIM:616811
Bonnemann-Meinecke-Reich Syndrome	Cerebral calcification, Decreased response to growth hormone stimulation test, Microcephaly	ORPHA:1261
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,...	ORPHA:300373
Cog5-Cdg	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Diffuse cerebral atrophy, Cerebr...	ORPHA:263487
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Elevated hepatic transaminase, Hypothyroidism, Pneumothorax, Neutropenia, Cer...	ORPHA:445038
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Hyperammonemia, Choreoath...	ORPHA:27
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Hydatidiform Mole	Hyperthyroidism, Menometrorrhagia, Enlarged uterus, Anemia	ORPHA:99927
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Secondary microcephaly, Cerebellar hypoplasia, Hepatomegaly	OMIM:613730
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Leukopenia, Hypoalbuminemia, Abnormal salivary g...	ORPHA:2298
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Short stature, Aggressive behavior, Tremor, Gait ataxia, Abdominal obesity, Delaye...	OMIM:300354
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Decreased mitochondrial number, Elevated circulating creatine kinase concentr...	ORPHA:352447
Primary Progressive Freezing Gait	Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Dementi...	ORPHA:75567
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Small for gestational age, Decreased response to growth hormone...	OMIM:616835
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuo...	OMIM:269920
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Tremor, Increased body weight, Agitation, Pancreatic islet-...	ORPHA:276608
Ichthyosis, X-Linked	Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma	OMIM:308100
Vipoma	Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live...	ORPHA:97282
Anterior Cutaneous Nerve Entrapment Syndrome	Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Decreased body ...	ORPHA:51890
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu...	OMIM:300400
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinin...	OMIM:608104
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Myoclonic spasms, Di...	ORPHA:478029
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide...	OMIM:615980
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Cerebral atrophy, Eyelid myoc...	OMIM:613839
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp...	ORPHA:485405
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
De Sanctis-Cacchione Syndrome	Ataxia, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atro...	OMIM:278800
Pituitary Gigantism	Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati...	ORPHA:99725
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Delayed CNS myelination, Recurrent skin infections, Splenomegaly, Leukopenia, Neuro...	OMIM:620210
8Q21.11 Microdeletion Syndrome	Wide nose, Cataract, Corneal opacity, Eczema, Sclerocornea, Underdeveloped nasal alae, Cryptorchi...	ORPHA:284160
Sialidosis Type 2	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Ascites	ORPHA:87876
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Sporadic Infantile Bilateral Striatal Necrosis	Short attention span, Resting tremor, Dystonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia,...	ORPHA:225147
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Respiratory distress, Respirat...	OMIM:613561
15Q24 Microdeletion Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Co...	ORPHA:94065
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Non-Acquired Isolated Growth Hormone Deficiency	Anterior hypopituitarism	ORPHA:631
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Pulmona...	ORPHA:1655
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Microsporidiosis	Sinusitis, Cholangitis, Bronchitis, Anorexia, Abnormality of the spleen, Abnormality of the parat...	ORPHA:2552
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl...	ORPHA:436182
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell	ORPHA:1135
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Ischemic stroke, Addictive alcohol use, Left ventricular hypertrophy, Hypercholeste...	ORPHA:90065
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Ataxia, Flat nasal alae, Keratitis, Cryptorchidism, Optic ...	ORPHA:910
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ata...	OMIM:602481
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Myopathy, Mitochondrial, And Ataxia	Ataxia, Short stature, Tremor, Inability to walk, Limb ataxia, Dysmetria, Depression, Growth dela...	OMIM:617675
Oculopharyngodistal Myopathy	Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis	ORPHA:98897
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Adrenoleukodystrophy	Limb ataxia, Dementia, Neurodegeneration, Attention deficit hyperactivity disorder, Truncal ataxi...	OMIM:300100
Purine Nucleoside Phosphorylase Deficiency	Increased circulating inosine concentration, Autoimmune hemolytic anemia, Failure to thrive, Atax...	OMIM:613179
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Depressed nasal bridge, Anosmia, Short nose, Short nasal septum	OMIM:302950
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ataxia, Corneal opacity, Recurrent upper respiratory tract infections, Restrictive ...	OMIM:253010
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Cerebral calcification, Tachypnea, Hypoalbuminemia, Hypocalcemia, Cough, Emphysema...	OMIM:613658
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Anteverted nares, Depressed nasal bridge, Increased serum beta-hexosaminidase, Card...	OMIM:252500
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Hypogonadotropic hypogonadism, Limb joint contracture, Micro...	OMIM:612079
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Microcephaly, Splenomegaly, Respiratory insuffici...	OMIM:609981
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Depr...	OMIM:193003
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
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
Whipple Disease	Hyponatremia, Hepatomegaly, Ataxia, Cachexia, Anorexia, Splenomegaly, Mediastinal lymphadenopathy...	ORPHA:3452
Peho Syndrome	Cerebellar atrophy, Optic atrophy, Myoclonus, Peripheral dysmyelination, Short nose, Neuronal los...	OMIM:260565
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp...	OMIM:301082
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Cryptorchidism, Anosmia, Obesity, Hyposmia, Decreased testicular size	OMIM:610628
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare...	ORPHA:3208
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Inguinal hernia, Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum,...	ORPHA:544488
Developmental And Epileptic Encephalopathy 46	Tremor, Limb hypertonia, Failure to thrive, Dysphagia	OMIM:617162
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Autosomal Recessive Spastic Paraplegia Type 71	Hypoplasia of the corpus callosum, Abnormal myelination	ORPHA:401840
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Delayed CNS myelination, Elevated circulating aspartate aminotransferase concentrat...	OMIM:614924
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed...	OMIM:612702
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive c...	ORPHA:85443
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypercalc...	OMIM:614732
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraple...	OMIM:617710
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,...	ORPHA:440437
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula...	OMIM:605814
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc...	ORPHA:529665
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Mucopolysaccharidosis, Type Iva	Waddling gait, Hepatomegaly, Recurrent upper respiratory tract infections, Recurrent pneumonia, R...	OMIM:253000
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Small for gestational age, Macronodular cirrhosis, Abnormal ...	OMIM:215250
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test	OMIM:300123
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Camptodactyly of finger, Microcephaly, Cryptorchidism, Flexion contrac...	ORPHA:1194
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Somatostatinoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97283
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia	OMIM:312170
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Ataxia, Progressive spasticity, Failure to thrive, Panhypogammaglobul...	ORPHA:251009
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d...	OMIM:613807
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Microcephaly, Splenomegaly, Respiratory insufficiency, Aplasia/...	ORPHA:1046
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Ataxia, Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Testicular atrophy, De...	OMIM:308700
Alg2-Cdg	Hepatomegaly, Cataract, Wide nasal bridge, Lateral ventricle dilatation, Cerebral hypomyelination...	ORPHA:79326
Recessive X-Linked Ichthyosis	Cryptorchidism, Opacification of the corneal stroma	ORPHA:461
Diencephalic Syndrome	Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui...	ORPHA:1672
Choreoacanthocytosis	Caudate atrophy, Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dys...	ORPHA:2388
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron...	OMIM:619991
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,...	OMIM:610978
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Failure to th...	OMIM:612714
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Ataxia, Intermittent hyperventilation, Abnormal neuron morphology, P...	ORPHA:163681
Turner Syndrome Due To Structural X Chromosome Anomalies	Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Bili...	ORPHA:99413
Mosaic Monosomy X	Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Bili...	ORPHA:99228
Monosomy X	Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Bili...	ORPHA:99226
Turner Syndrome	Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Bili...	ORPHA:881
Mevalonic Aciduria	Splenomegaly, Ataxia, Cerebral cortical atrophy	ORPHA:29
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Decreased activity of mitochondrial ATP synthase complex, Prominent nasal bridge, A...	OMIM:604273
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec...	ORPHA:813
Argininemia	Cerebellar atrophy, Hepatomegaly, Hyperactivity, Anorexia, Postnatal growth retardation, Micronod...	OMIM:207800
Schinzel-Giedion Syndrome	Respiratory distress, Inguinal hernia, Streak ovary, Hypospadias, Failure to thrive in infancy, M...	ORPHA:798
Ppoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97278
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies	Hyperactivity, Delayed CNS myelination, Decreased response to growth hormone stimulation test, Mi...	OMIM:615286
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis, Weight loss	OMIM:613239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Corneal opacity, Cataract, Elevated circulating creatine kinase co...	OMIM:613153
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapyramidal moto...	ORPHA:79279
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Ataxia, Cryptorchidism, Spastic paraplegia, Anosmia, Testicular atrophy	OMIM:308750
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Splenome...	ORPHA:824
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Short stature, Tremor, Dementia, Decreased body weight	OMIM:278760
Silver-Russell Syndrome 1	Small for gestational age, Hypospadias, Decreased response to growth hormone stimulation test, He...	OMIM:180860
Acromelic Frontonasal Dysplasia	Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchidism, Upper airw...	ORPHA:1827
Gapo Syndrome	Dysmenorrhea, Oligozoospermia, Hypogonadism, Umbilical hernia, Amenorrhea	ORPHA:2067
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Slurred...	OMIM:256550
Panhypopituitarism, X-Linked	Panhypopituitarism	OMIM:312000
Brucellosis	Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Anorexia, Chore...	ORPHA:1304
Pituitary Dwarfism With Large Sella Turcica	Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:262710
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Growth delay, Gait dist...	ORPHA:765
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul...	OMIM:613327
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Abnormal CD4:CD8 ratio, Autoimmu...	ORPHA:572
Deeah Syndrome	Hepatomegaly, Neonatal respiratory distress, Decreased hemoglobin concentration, Delayed CNS myel...	OMIM:619004
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ...	ORPHA:85327
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Elevated circulating creatine kinase ...	OMIM:606002
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Impaired distal proprioception, Impaired p...	ORPHA:14
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Renpenning Syndrome	Diabetes mellitus, Hypospadias, Cachexia, Microcephaly, Decreased testicular size	ORPHA:3242
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Metachromatic Leukodystrophy	Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Tip-toe gai...	ORPHA:512
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Clonus, Athetosis, Hyperalaninemia	OMIM:266150
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Hydrolethalus	Cryptorchidism, Agenesis of corpus callosum, Abnormality of the sense of smell	ORPHA:2189
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplas...	ORPHA:496790
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c...	OMIM:615513
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Prominent nasal bridge, Corneal o...	ORPHA:357058
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Hyperalaninem...	OMIM:619046
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Wide penis, Chiari type I malformation, Le...	ORPHA:3455
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Waddling gait, Ataxia, Elevated ...	OMIM:615356
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:601859
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the you...	OMIM:137920
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ...	ORPHA:249
Webb-Dattani Syndrome	Delayed CNS myelination, Decreased response to growth hormone stimulation test, Anterior pituitar...	OMIM:615926
Joubert Syndrome 33	Oculomotor apraxia, Splenomegaly, Ataxia	OMIM:617767
Johnson Neuroectodermal Syndrome	Choanal atresia, Facial palsy, Bulbous nose, Anosmia, Failure to thrive	ORPHA:2316
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Zellweger Syndrome	Hepatomegaly, Failure to thrive, Very long chain fatty acid accumulation, Hypospadias, Microcepha...	ORPHA:912
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Ataxia, Impaired temperature sensation, Cardiomegaly,...	OMIM:268800
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Impaired T cell function, Tremor, Splenomegaly, Decreased serum zinc, Hypog...	OMIM:201100
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Spermatogenic Failure 6	Globozoospermia, Decreased acrosin in sperm head, Male infertility	OMIM:102530
H Syndrome	Hypertriglyceridemia, Psoriasiform dermatitis, Microcytic anemia, Recurrent pharyngitis, Bronchie...	ORPHA:168569
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Hypospadias, Microcephaly, Focal polymicrogyria, Cryptorchidism, Partial agen...	OMIM:619103
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi...	ORPHA:275761
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Hepatomegaly, Inguinal hernia, Multiple joint contractures, Ataxia, Delayed C...	OMIM:618143
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Glucagonoma	Anorexia, Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol lev...	ORPHA:97280
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Bifid nose, Anosmia, Decreased testicular size	OMIM:614838
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Anemia, Ascites, Abnormal vagina morphology, Thrombocytopenia	ORPHA:2123
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Bulbous nose, Optic atrophy, Spastic tetraplegia, Chiari type I malformation, N...	OMIM:618476
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Adrenomyeloneuropathy	Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe...	ORPHA:139399
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Cowden Syndrome 1	Hyperthyroidism, Dysplastic gangliocytoma of the cerebellum, Thyroiditis, Hemimegalencephaly, Hyd...	OMIM:158350
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Absent outer dynein arms, Bronchiectasis, Decrea...	OMIM:612444
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibration sensation in the lower ...	ORPHA:447753
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size	OMIM:614880
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Failure to thrive, Hyperammonemia, Anemia	ORPHA:28
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss	ORPHA:178029
Mohr-Tranebjaerg Syndrome	Tremor, Dysphagia, Dystonia, Mental deterioration, Spasticity	OMIM:304700
Giant Axonal Neuropathy	Abnormal cerebellum morphology, Abnormal pituitary gland morphology, CNS hypomyelination, Distal ...	ORPHA:643
Ciliary Dyskinesia, Primary, 18	Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein arms, Decreased nasa...	OMIM:614874
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Recurrent respiratory infections, Hypospadias, Supernumerary nipple, Cachexia, Mic...	ORPHA:217346
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar...	ORPHA:144
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Optic disc pallor, Pancytopenia, Cataract, Ataxia, Corneal opacity, Pneumonia...	ORPHA:309288
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal...	OMIM:618056
Aicardi-Goutieres Syndrome 7	Generalized lymphadenopathy, Basal ganglia calcification, Hypothyroidism, Hepatic steatosis, Hepa...	OMIM:615846
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Microvesicular hepatic steatosis, Flexion contracture, Knee flexion co...	OMIM:300868
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia, Abnormal cranial nerve morphology	ORPHA:2057
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Diabetes mellitus, Small for gestational age, Microcephaly, Oligozoospermia, Clitoral hypoplasia,...	OMIM:614813
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Weight loss, Iron deficiency anemia, Hy...	OMIM:212750
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, CNS hypomyelination, Primary hypothyroidism, Failur...	ORPHA:300536
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cerebellar vermis hypoplasia, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis,...	OMIM:615630
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte...	OMIM:216360
Cockayne Syndrome Type 2	Hepatomegaly, Ataxia, Scarring, Cryptorchidism, Flexion contracture, Male hypogonadism, Enamel hy...	ORPHA:90322
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Acute hepatic failure, Elevated hepatic t...	ORPHA:537
8P11.2 Deletion Syndrome	Hemolytic anemia, Depressed nasal bridge, Splenomegaly, Cryptorchidism, Spherocytosis, Anosmia, M...	ORPHA:251066
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia ...	ORPHA:401820
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Hyposmia, Parkins...	OMIM:607060
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Mucolipidosis Iii Gamma	Increased serum beta-hexosaminidase, Opacification of the corneal stroma	OMIM:252605
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr...	OMIM:618495
Complex Regional Pain Syndrome	Somatic sensory dysfunction, Involuntary movements, Dysesthesia, Trophic changes related to pain,...	ORPHA:83452
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Hypercholesterolemi...	ORPHA:69663
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Chorea, Axonal loss, Gliosis, Hypotriglyceridemia, Hepatomegaly...	ORPHA:404454
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Dystonia, Spas...	ORPHA:702
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait...	OMIM:311510
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy, Ovarian neoplasm	ORPHA:2221
Myoclonic-Astatic Epilepsy	Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emotion, Attentio...	ORPHA:1942
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia ...	ORPHA:401830
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar...	ORPHA:397596
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Sea-blu...	OMIM:230600
Scheie Syndrome	Hepatomegaly, Cerebral palsy, Corneal opacity, Splenomegaly, Rhinitis, Spastic paraparesis, Abnor...	ORPHA:93474
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle resp...	OMIM:615574
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Optic Atrophy 11	Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atroph...	OMIM:617302
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Proximal 16P11.2 Microduplication Syndrome	Short stature, Tremor, Attention deficit hyperactivity disorder, Compulsive behaviors, Failure to...	ORPHA:370079
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, Microcephaly, Cryptorchidism, Pulmonary artery sten...	ORPHA:251071
Marcus-Gunn Syndrome	Choanal atresia, Abnormal fifth cranial nerve morphology, Abnormality of the sense of smell	ORPHA:91412
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Cerebral cortical atrophy, Weight loss	ORPHA:1164
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Neonatal respiratory distress, Lipodystrophy, Decreased response to growth ho...	OMIM:618922
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture,...	OMIM:619503
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bilateral basal ganglia lesions, Hepatic steatosis, Gliosis, Microcephaly	OMIM:615119
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis...	OMIM:300991
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat...	OMIM:615122
Infantile Refsum Disease	Hepatomegaly, Cataract, Ataxia, Facial palsy, Optic atrophy, Elevated circulating phytanic acid c...	ORPHA:772
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Chronic axonal neuropathy, Ataxia, Hypokalemia, Hyperaldosteronism, Increased...	OMIM:612780
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Microcephaly, Cryptorchidism, Abnormal...	ORPHA:1606
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Wide nasal bridge, Microcornea, Opacification of the corneal stroma, Anterior cha...	OMIM:601499
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79332
Tetrasomy 9P	Absent gallbladder, Hyperactivity, Abnormal dental enamel morphology, Cryptorchidism, Jaundice, B...	ORPHA:3310
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Hepatomegaly, Delayed CNS myelination, Depressed nasal bridge, Hepatosplenome...	OMIM:608776
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Compulsive behaviors, Abno...	ORPHA:500166
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Ataxia, Foot joint contracture, Achilles tendon contracture, Apl...	ORPHA:456312
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Choreoathetosis, Dysphagia, Spasticity	OMIM:617664
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Productive cough, Diffuse alveolar hemorrhage, T...	ORPHA:520
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Partial agenesis of the corpus callosum, Cerebral atrophy, Brain atrophy, Abnormal mye...	ORPHA:85179
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism...	ORPHA:171876
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Fryns Syndrome	Ectopic pancreatic tissue, Anteverted nares, Aganglionic megacolon, Large for gestational age, Cr...	OMIM:229850
Neuhauser Syndrome	Delayed CNS myelination, Ataxia, Microcephaly, Primary hypothyroidism, Dysphagia, Hypercholestero...	OMIM:249310
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,...	ORPHA:329478
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Anteverted nares, Depressed nasal ridge, Respiratory insufficiency, Weight loss, Fa...	ORPHA:1842
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
Majeed Syndrome	Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi...	ORPHA:77297
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Anteverted nares, Cachexia, Prominent nose, Prominent nasal bridge,...	OMIM:616801
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal...	ORPHA:90362
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Respiratory tract infection, Peritonitis, Hypoalbuminem...	ORPHA:567548
Thymoma	Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Weight loss, Ne...	ORPHA:99867
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Weight loss, Neoplasm of the ...	ORPHA:142
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Fg Syndrome Type 1	Inguinal hernia, Hypospadias, Progressive flexion contractures, Cryptorchidism, Abnormal cerebell...	ORPHA:93932
Srd5A3-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Decreased response to growth hormone s...	ORPHA:324737
Obesity And Hypopigmentation	Polyphagia, Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Hypertriglyceridemia 1	Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El...	OMIM:210250
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Apnea, Tremor, Aplasia/Hypoplasia of the cerebellum, Iris coloboma,...	ORPHA:1454
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Cerebellar vermis atrophy, ...	OMIM:617988
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Cerebellar vermis hypoplasia, Cerebral calcification...	ORPHA:228308
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Delayed CNS myelination, Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum...	OMIM:620317
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Wide nasal bridge, Frontalis muscle weakness	OMIM:210745
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Hypospadias, Decreased response to growth hormone stimulation test, Microcephaly, Bilateral crypt...	OMIM:618336
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Microcephaly, Microvesicular hepatic steatosis, Chorea, Cerebral atrophy, Hyp...	OMIM:616672
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst,...	OMIM:246200
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexi...	OMIM:618440
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Kleine-Levin Syndrome	Poor hand-eye coordination, Slurred speech, Parosmia	ORPHA:33543
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy	ORPHA:26790
Typhoid	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia	ORPHA:99745
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Dementi...	OMIM:105210
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia	OMIM:620357
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Delayed CNS myelination, Exaggerated startle resp...	OMIM:616881
X-Linked Creatine Transporter Deficiency	Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia	ORPHA:52503
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Dysplastic corpus callosum, Primary microcephaly, Over...	OMIM:618010
Monosomy 18Q	Slender build, Microcephaly, Bilateral cryptorchidism, Diffuse white matter abnormalities, Choreo...	ORPHA:1600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Fa...	OMIM:601457
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Neoplasm of the ...	ORPHA:54595
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis...	ORPHA:98907
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Serotonin Syndrome	Restlessness, Confusion, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Agitation, Myoclonus...	ORPHA:43116
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Cryptorchidism, Anosmia	OMIM:244200
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Failure to thrive in infancy, Cardi...	OMIM:619064
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Elevated hepatic transaminase, Hyperalaninemia, Respiratory insufficiency, Re...	OMIM:618329
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Abnormal motor...	ORPHA:52430
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Respiratory distress, Ataxia, Microcephaly, Recurrent pneumonia, Flexion cont...	OMIM:616271
Congenital Tufting Enteropathy	Cataract, Choanal atresia, Corneal erosion, Optic disc coloboma, Weight loss, Arthritis, Cholesta...	ORPHA:92050
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiecta...	OMIM:235255
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Leopard Syndrome 1	Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic...	OMIM:151100
Rhyns Syndrome	Hypopituitarism, Abnormality of the liver	ORPHA:140976
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Impaired distal proprioception, Dysmetria, Gait ataxia, Progressive gait ataxia, Atrophy/Degenera...	OMIM:607459
Mogs-Cdg	Respiratory distress, Hypoventilation, Hepatomegaly, Apnea, External genital hypoplasia, Cardiome...	ORPHA:79330
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:614858
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased HDL cholesterol concentration, ...	ORPHA:412
Propionic Acidemia	Hepatomegaly, Pancytopenia, Dystonia, Hyperammonemia, Cerebral atrophy, Anemia, Hyperglycinemia, ...	OMIM:606054
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Cachexia	ORPHA:157973
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Hypospadias, Abnormal preputium morphology, Microceph...	ORPHA:84
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Inguinal hernia, Hyperactivity, Camptodactyly of finger, Cachexia, Microceph...	ORPHA:85293
Hereditary Sensory And Autonomic Neuropathy Type 5	Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P...	ORPHA:64752
Ciliary Dyskinesia, Primary, 28	Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Bronchiectasis, Dec...	OMIM:615505
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Microcephaly, Cryptorchidism, T...	OMIM:603467
Noonan Syndrome 12	Lymphopenia, Chiari malformation, Decreased response to growth hormone stimulation test, Thromboc...	OMIM:618624
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Generalized dystonia, Ataxia, Cataract, Skin rash, Chorea, Spastic tetraplegia, Cer...	OMIM:618321
Peters Plus Syndrome	Inguinal hernia, Hypospadias, Microcephaly, Cryptorchidism, Congenital hypothyroidism, Hypoplasia...	ORPHA:709
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Anosmia	OMIM:612370
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cerebral calcification, Del...	OMIM:617303
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Stuve-Wiedemann Syndrome 1	Anteverted nares, Apnea, Impaired pain sensation, Respiratory insufficiency, Abnormal autonomic n...	OMIM:601559
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Acquired Partial Lipodystrophy	Lipoatrophy, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Frequent falls, Abnormal macrophage morphology, Elevated circulating creatine kinase concentration	ORPHA:353
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Reduced n...	OMIM:616050
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni...	OMIM:616840
Kearns-Sayre Syndrome	Anterior hypopituitarism, Ataxia	ORPHA:480
Monosomy 13Q34	Metrorrhagia, Epistaxis, Hypercalcemia, Microcephaly, Obesity, Agenesis of corpus callosum, Hepat...	ORPHA:96168
Sialidosis Type 1	Cataract, Ataxia, Corneal opacity, Decreased nerve conduction velocity, Splenomegaly, Tremor, Slu...	ORPHA:812
Bardet-Biedl Syndrome 17	Hyposmia, Poor coordination, Anosmia, Obesity	OMIM:615994
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ataxia, Spastic hemiparesis, Jau...	ORPHA:20
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Abnormal circulating creatine...	ORPHA:369840
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Impaired vibratory sensation, Spe...	ORPHA:415
Beta-Ketothiolase Deficiency	Hepatomegaly, Ataxia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Extrapyramidal dy...	ORPHA:134
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Absent septum pellucidum, Congenital diaphragmatic hernia, Ovotestis, Microcephaly, ...	OMIM:309801
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Elevated circulating creatine kinase concentration, Optic nerve dy...	OMIM:615287
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Anterior p...	ORPHA:177907
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Abnormality of the liver...	ORPHA:254892
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ...	OMIM:212140
Opitz Gbbb Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Agenesis of corpus callosum, Recurrent aspiration...	ORPHA:2745
Ciliary Dyskinesia, Primary, 26	Neonatal respiratory distress, Absent outer dynein arms, Bronchiectasis, Decreased nasal nitric o...	OMIM:615500
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid c...	OMIM:608836
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Diabetes mellitus, Hypothyroidis...	ORPHA:93111
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C...	OMIM:256040
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to...	OMIM:615438
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Bronc...	ORPHA:2969
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous genitalia, female, Ambiguous...	OMIM:249000
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, S...	ORPHA:95409
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ...	ORPHA:1333
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Elev...	ORPHA:900
Trisomy 18	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Microcephaly, Cr...	ORPHA:3380
Autoimmune Polyendocrinopathy Type 1	Chronic mucocutaneous candidiasis, Increased circulating cortisol level, Cataract, Opacification ...	ORPHA:3453
Ciliary Dyskinesia, Primary, 25	Neonatal respiratory distress, Productive cough, Chronic pulmonary obstruction, Recurrent pneumon...	OMIM:615482
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Decreased motor nerve conduction velocity, Cachexia, Babinski sign, Respirato...	OMIM:618186
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Short stature, Tremor, Dysmetria, Depression, Growth delay, Progress...	ORPHA:502423
O'Sullivan-Mcleod Syndrome	Somatic sensory dysfunction, Eosinophilia, Tremor, Atrophy of the spinal cord, Increased circulat...	ORPHA:99965
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop...	OMIM:602450
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Ciliary Dyskinesia, Primary, 34	Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A...	OMIM:617091
Alveolar Echinococcosis	Liver abscess, Ataxia, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal...	ORPHA:284
Pyruvate Carboxylase Deficiency	Tremor, Cerebellar gliosis, Tachypnea, Abnormal pyramidal sign, Basal ganglia gliosis, Agenesis o...	ORPHA:3008
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,...	ORPHA:93941
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Frontal lobe de...	ORPHA:97355
Lowe Oculocerebrorenal Syndrome	Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevated maternal serum...	OMIM:309000
Attrv30M Amyloidosis	Impotence, Weight loss, Cardiomegaly	ORPHA:85447
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Paresthesia, Eosinophilia, Weight loss	ORPHA:3165
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ...	OMIM:248370
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Charcot-Marie-Tooth Disease Type 4B2	Reduced vital capacity, Decreased distal sensory nerve action potential, Cataract, Tremor, Inabil...	ORPHA:99956
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab...	OMIM:618063
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Cryptorchidism, Upper airway obstruction, Retrocerebellar cyst...	OMIM:603671
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lympho...	ORPHA:331206
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Hepatomegaly, Ataxia, Anteverted nares, Prominent nasal bridge, Inability to ...	OMIM:618443
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Decreased adipose tissue around neck, Pu...	OMIM:606721
Alternating Hemiplegia Of Childhood	Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Progress...	ORPHA:2131
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi...	OMIM:601427
Alagille Syndrome 1	Long nose, Microcornea, Abnormal anterior chamber morphology, Depressed nasal bridge, Concave nas...	OMIM:118450
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Keloids, Cryptorchidism, Oligozoospermia	OMIM:314300
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Depression, Head tremor, Mental deteri...	ORPHA:314404
Hyperlysinemia	Short attention span, Hyperactivity, Neck hypertonia, Short stature, Poor motor coordination, Spa...	ORPHA:2203
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Hyperammonemia, Anemia, Leu...	ORPHA:292
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchyma morphology, Neoplasm of the lun...	ORPHA:1332
Juvenile Sialidosis Type 2	Hepatomegaly, Lower limb spasticity, Cataract, Ataxia, Corneal opacity, Optic atrophy, Dysmetria,...	ORPHA:93399
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss	OMIM:188580
Pmm2-Cdg	Respiratory distress, Cerebellar vermis hypoplasia, Multiple joint contractures, Elevated circula...	ORPHA:79318
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Hepatospleno...	ORPHA:367
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Ogden Syndrome	Apnea, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia,...	OMIM:300855
Galactosialidosis	Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 21	Increased cerebral lipofuscin, Hyperprolinemia, Cerebral atrophy, Hypoplasia of the corpus callos...	OMIM:615918
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Dystonia, Tremor, Sple...	OMIM:615512
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Microcephaly, Cryptorchidism, Leukocytosis, Acut...	ORPHA:99812
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Pancytopenia, Diffuse cerebral atrophy, Ataxia, Elevated circulating creatine...	OMIM:607426
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Elevated circulating...	ORPHA:420741
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:603909
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Tremor, Splenomegaly, Jaundice, Irrit...	ORPHA:525731
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellu...	OMIM:301078
Fatal Familial Insomnia	Ataxia, Myoclonus, Weight loss	OMIM:600072
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Failure to thrive, Lipogranulomatosis	OMIM:228000
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Asthma, Micronodular cirrhos...	OMIM:606003
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Failure to thrive, Vaginal neo...	ORPHA:1018
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum	OMIM:613162
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Ciliary Dyskinesia, Primary, 45	Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein...	OMIM:618801
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss	ORPHA:1979
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hepatomegaly, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, ...	OMIM:301072
Triploidy	Omphalocele, Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the p...	ORPHA:3376
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss	ORPHA:33276
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Sneddon Syndrome	Facial palsy, Tremor, Decreased circulating total IgM, Impaired distal tactile sensation, Hemiple...	OMIM:182410
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, De...	ORPHA:25
Insulinoma	Tremor, Abnormality of the pancreatic islet cells, Increased body weight, Transient global amnesi...	ORPHA:97279
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect...	OMIM:617092
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Cerebellar hypoplasia, ...	OMIM:620327
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Scarring, Foot joint contracture, Cryptorchi...	ORPHA:90321
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi...	OMIM:605309
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Pyruvate Dehydrogenase E2 Deficiency	Broad-based gait, Dementia, Neurodegeneration, Gait disturbance, Difficulty walking	ORPHA:79244
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity	OMIM:244600
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Ataxia, Optic neuropathy, Focal T2 hyp...	ORPHA:2609
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ataxia, Clonus, Elevated circulating creatine kinase concentration...	OMIM:616878
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss	ORPHA:99868
Ciliary Dyskinesia, Primary, 32	Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit...	OMIM:616481
Ciliary Dyskinesia, Primary, 22	Neonatal respiratory distress, Nasal polyposis, Bronchiectasis, Decreased nasal nitric oxide, Abs...	OMIM:615444
Ciliary Dyskinesia, Primary, 12	Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit...	OMIM:612650
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Sézary Syndrome	Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:3162
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Dyskeratosis Congenita	Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Diabetes mellitus, Cere...	ORPHA:1775
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato...	OMIM:158310
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Cerebral Visual Impairment	Optic disc pallor, Short attention span, Optic nerve hypoplasia, Optic atrophy, Central nervous s...	ORPHA:447788
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Cataract, Megalocornea, Elevated circulating creatine kinase concentration,...	OMIM:253280
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce...	OMIM:101800
Niemann-Pick Disease, Type C2	Hepatomegaly, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Se...	OMIM:607625
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Depressed nasal bridge, Elevated...	ORPHA:26791
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor...	ORPHA:143
Cohen Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Microcephaly, N...	OMIM:216550
Sarcoidosis	Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Leukopenia, C...	ORPHA:797
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Hypospadias, Endometriosis, Dysplastic corpus callosum, Camptoda...	ORPHA:363444
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Bietti Crystalline Dystrophy	Crystalline corneal dystrophy	ORPHA:41751
Kaposiform Lymphangiomatosis	Metrorrhagia, Epistaxis, Pancreatic cysts, Dyspnea, Abnormal lung morphology, Splenomegaly, Throm...	ORPHA:464329
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Delayed myelination, Vac...	OMIM:248500
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology, Abnormal myelination	ORPHA:401835
Ciliary Dyskinesia, Primary, 11	Neonatal respiratory distress, Bronchiectasis, Decreased nasal nitric oxide, Abnormal central mic...	OMIM:612649
Hurler Syndrome	Hepatomegaly, Cerebral palsy, Depressed nasal bridge, Anteverted nares, Abnormality of the tonsil...	ORPHA:93473
Triple A Syndrome	Ataxia, Microcephaly, Respiratory insufficiency, Adrenal insufficiency, Anterior hypopituitarism	ORPHA:869
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Nasal polyposis, Sinusitis, Eosinophilia, Skin rash, H...	ORPHA:183
Megalocornea-Intellectual Disability Syndrome	Ataxia, Microcephaly, Hypothyroidism, Hypercholesterolemia, Abnormal repetitive mannerisms	ORPHA:2479
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Dysplastic co...	OMIM:619423
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Weight loss	ORPHA:94080
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D...	ORPHA:449395
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Progressive neurologic deterioration, Large for gest...	ORPHA:263455
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Hashimoto thyroiditis, ...	ORPHA:49041
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Hypertonia, Spastic...	OMIM:617864
Neuroblastoma, Susceptibility To, 1	Ataxia, Abdominal mass, Weight loss, Myoclonus, Failure to thrive, Anemia	OMIM:256700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcephaly, Microcytic anemia, Increased circulating...	OMIM:600462
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Cachexia, Poor coordination, Optic atrophy, Defective DNA repair a...	OMIM:610965
Klippel-Trénaunay Syndrome	Hepatomegaly, Pulmonary embolism, Abnormality of the menstrual cycle, Microcephaly, Microcytic an...	ORPHA:90308
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Failure to thrive, Erythroid hypoplasia, R...	OMIM:275350
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Decreased testicular size	OMIM:614897
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly...	ORPHA:2072
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Ataxia, Thrombocytopenia, Weight loss	ORPHA:79242
Igg4-Related Aortitis	Elevated circulating C-reactive protein concentration, Increased circulating IgG4 level, Increase...	ORPHA:449400
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Absent septum pellucidum, Decreased serum iron, Breathing dysregulation, ...	ORPHA:438213
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Dystonia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable ...	ORPHA:199351
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:614034
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Rhinitis, Re...	OMIM:614935
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Cowden Syndrome 5	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Su...	OMIM:615108
Hypoplasminogenemia	Cervicitis, Decreased level of plasminogen, Abnormal fallopian tube morphology, Abnormality of th...	ORPHA:722
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Decreased body ...	ORPHA:1667
Rett Syndrome	Dystonia, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity	OMIM:312750
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Jaundice, Gliosis, Pulmonary hypoplasia, Elevated circulating...	OMIM:231680
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:33577
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:313200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,...	OMIM:618278
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Apnea, Elevated circulating growth hormone concentration, Large for gestational age, Multiple pan...	ORPHA:79644
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Depressed nasal bridge, Elevated circulating aspartate aminot...	OMIM:170100
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le...	ORPHA:2902
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Steatorrhea, F...	ORPHA:95427
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic derma...	OMIM:603165
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Cowden Syndrome 6	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va...	OMIM:615109
C Syndrome	Omphalocele, Hepatomegaly, Microcephaly, Cryptorchidism, Failure to thrive, Clitoral hypertrophy	OMIM:211750
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t...	ORPHA:72
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention defici...	OMIM:619680
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis	OMIM:617186
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated ...	ORPHA:829
Moebius Syndrome	Corneal opacity, Facial palsy, Blepharitis, Abnormality of the sense of smell	ORPHA:570
Ataxia-Telangiectasia	Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG l...	OMIM:208900
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hemiplegia/hemiparesis, Transient hyperlipidemia, He...	ORPHA:156
Flynn-Aird Syndrome	Ataxia, Cachexia, Impaired pain sensation	ORPHA:2047
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Microcephaly, Cryptorchidism, Respiratory insuffici...	ORPHA:138
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Chorea, Dysmetria, Hepatic fibrosis, Gliosis, Hepatomegaly, Pain insensitiv...	OMIM:615273
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Ataxia...	ORPHA:822
Bohring-Opitz Syndrome	Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Delayed peripheral myeli...	OMIM:605039
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor...	ORPHA:363618
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Ciliary Dyskinesia, Primary, 16	Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot...	OMIM:614017
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Neonatal respiratory distress, Decreased hemoglobin concentration, Delayed CNS myel...	OMIM:619005
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia, Decreased response t...	OMIM:245590
Stevens-Johnson Syndrome	Acute hepatic failure, Recurrent respiratory infections, Dyspareunia, Elevated hepatic transamina...	ORPHA:36426
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia...	ORPHA:572798
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i...	ORPHA:227990
Alagille Syndrome	Hepatomegaly, Cryptorchidism, Cholestasis, Reduced number of intrahepatic bile ducts, Delayed pub...	ORPHA:52
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi...	ORPHA:293987
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Tachypnea, Polycystic ovaries, Cough, Cerebellar malformation, Failur...	ORPHA:137675
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Hepatomegaly, Optic disc pallor, Ataxia, Apnea, Optic neuropathy, Splenomegal...	OMIM:252010
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Cachexia	ORPHA:1933
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ataxia, Impulsivity, Cardiomegaly, Aggressive behavior, Cryptorchidism, Dysplastic corpus callosu...	OMIM:300967
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Crackles, Mediastinal lymphadenopathy, Dyspnea, Wheezing, Bronch...	ORPHA:79128
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, In...	OMIM:608885
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro...	ORPHA:227982
Norrie Disease	Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallo...	OMIM:310600
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad...	OMIM:615849
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Pneumonia, Elevated circulating C-re...	ORPHA:48435
Gm2-Gangliosidosis, Ab Variant	Chorea, Dementia, Neurodegeneration, Cerebral atrophy	OMIM:272750
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Biotinidase Deficiency	Hepatomegaly, Diffuse cerebral atrophy, Ataxia, Apnea, Skin rash, Recurrent skin infections, Sebo...	OMIM:253260
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ...	ORPHA:60033
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:614582
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Apnea, Rigidity, Delayed myelination, Optic atrophy, Respiratory in...	ORPHA:521426
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Promin...	OMIM:617281
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Increased T cell count, Hypohidrosis, Rec...	ORPHA:98813
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Recurrent bacterial upper respiratory tract infections, Asthma, Atopic dermatitis, Rhi...	ORPHA:70593
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase...	OMIM:614300
Multiple System Atrophy 1, Susceptibility To	Ataxia, Bradykinesia, Neurodegeneration, Cognitive impairment, Olivopontocerebellar atrophy	OMIM:146500
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, F...	ORPHA:85410
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Apnea, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dyspl...	ORPHA:2524
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Short stature, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gai...	OMIM:614947
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas...	ORPHA:171
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Thrombocytop...	OMIM:259710
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactive prote...	ORPHA:1302
Alg12-Cdg	Elevated hepatic transaminase, Hyponatremia, Wide nose, Prominent nasal bridge, Cryptorchidism, D...	ORPHA:79324
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive, Cerebral cortical...	OMIM:618201
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Type I diabetes mellit...	OMIM:620365
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Dyspha...	OMIM:254900
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia	OMIM:601466
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Splenomegal...	OMIM:617591
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Decreased response to growth hormone stimulation test, Microcephaly, Cryptorchid...	ORPHA:488632
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the cerebellar vermis, Pulmonary artery stenosis, Abnormality of the anteri...	ORPHA:75389
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr...	ORPHA:96182
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Fatigable weakness of swallo...	ORPHA:436271
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Incre...	ORPHA:77293
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Cachexia, Anemia	ORPHA:2930
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevat...	OMIM:614921
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Respiratory insufficiency, Respira...	ORPHA:746
Ciliary Dyskinesia, Primary, 27	Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Rhinitis, Respirator...	OMIM:615504
Polymyositis	Hepatomegaly, Elevated circulating creatine kinase concentration, Anorexia, Abnormal pulmonary in...	ORPHA:732
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Wide nasal bridge, Upper airway obstruction, Hepatos...	ORPHA:3166
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu...	ORPHA:98908
Ciliary Dyskinesia, Primary, 17	Dynein arm defect of respiratory motile cilia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent...	OMIM:614679
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ataxia, Anterior pituitary hypoplasia, Supernumerary nipple, Aggressive behavior, Bilateral crypt...	ORPHA:466791
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Optic disc pallor, Ataxia, Decreased activity of mitochondrial complex II, Myoclonu...	OMIM:619167
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Lower limb spasticity, Ataxia, Overweight, Inability to walk, Tremor, Obesi...	OMIM:619229
Behçet Disease	Ataxia, Anorexia, Pulmonary embolism, Orchitis, Splenomegaly, Weight loss, Lymphadenopathy, Pares...	ORPHA:117
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Steatorrhea, Hepat...	OMIM:602579
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Orch...	ORPHA:449563
Ritscher-Schinzel Syndrome 1	Adrenal hypoplasia, Hypospadias, Decreased response to growth hormone stimulation test, Dandy-Wal...	OMIM:220210
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Musk, Inability To Smell	Anosmia	OMIM:254150
Joubert Syndrome 8	Hepatomegaly, Ataxia, Obesity, Hypertonia, Prolonged neonatal jaundice, Oculomotor apraxia	OMIM:612291
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc...	ORPHA:803
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Asthma, Recurrent pneumonia, Chiari type I...	OMIM:615577
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloi...	ORPHA:37042
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Papilledema, Splenomegaly, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Neurode...	OMIM:309900
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Gliosis, Micropenis, ...	ORPHA:268261
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Chiari typ...	ORPHA:221098
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Ciliary Dyskinesia, Primary, 40	Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab...	OMIM:618300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Failure to thrive, Abnormal imm...	ORPHA:276
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma	OMIM:231005
Apolipoprotein A-I Deficiency	Xanthelasma, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, O...	ORPHA:425
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Delayed myelination, CNS hypomyelination, Respiratory failure, Decreased liver func...	OMIM:614922
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit...	OMIM:615481
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia	ORPHA:168816
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Hypospadias, Decreased response to growth hormone stimulation t...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Hypospadias, Decreased response to growth hormone stimulation t...	ORPHA:363958
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microcephaly, Tac...	OMIM:201475
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia, Steatorrhea	ORPHA:3217
Citrullinemia, Classic	Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis...	OMIM:215700
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona...	ORPHA:133
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly, Myoclonus, Spasticity, Cerebral cortical atrophy	ORPHA:309155
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnor...	ORPHA:39041
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Apnea, Rigidity, Delayed myelination, Babinski sign, Optic atrophy,...	OMIM:617527
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Optic atrophy, Distal sensory impairment, Cognitive impairment, Onion bulb form...	ORPHA:320375
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy	OMIM:604278
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Impaired proprioception, Ste...	ORPHA:71
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Dyspnea, ...	ORPHA:139402
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas...	ORPHA:443811
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic...	OMIM:619377
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Wide nose, Broad-based gait, Failure to t...	ORPHA:477817
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp...	ORPHA:514
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Dyspnea, Increased mean corpus...	ORPHA:90041
Knobloch Syndrome 1	Cerebellar atrophy, Optic disc pallor, Ataxia, Depressed nasal bridge, Band keratopathy, Bulbous ...	OMIM:267750
Renal Nutcracker Syndrome	Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele, Anemia	ORPHA:71273
Q Fever	Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He...	ORPHA:781
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed CNS myelination, Cryptorchidism, Obesity, Anisocoria, Difficulty walking, Hyposmia	OMIM:618653
Waardenburg Syndrome, Type 2E	Anosmia, Blue irides, Ocular albinism, Hypoplasia of the iris, Hypertonia, Cerebral hypomyelinati...	OMIM:611584
Gaucher Disease, Type Ii	Hepatomegaly, Rigidity, Splenomegaly, Cerebral atrophy, Anemia, Hypertonia, Oculomotor apraxia, S...	OMIM:230900
Microform Holoprosencephaly	Hypoplasia of penis, Maternal diabetes, Microcephaly, Hypothyroidism, Asthma, Agenesis of corpus ...	ORPHA:280200
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Absent septum pellucidum, Microcephaly, Hy...	OMIM:609053
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:616030
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, L...	ORPHA:206436
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Elevated circulating creatine kinase concentration, Decreased nerve conduct...	OMIM:618733
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Congenital Sialidosis Type 2	Hepatomegaly, Cataract, Ataxia, Corneal opacity, Optic atrophy, Dysmetria, Hepatosplenomegaly, De...	ORPHA:93400
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi...	OMIM:251900
Snakebite Envenomation	Hyponatremia, Epistaxis, Neuromuscular dysphagia, Respiratory failure, Pseudobulbar paralysis, Re...	ORPHA:449285
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Dementia, Dysphagia, Slender buil...	OMIM:603041
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Microcephaly, Cryptorchidism, Biliar...	OMIM:261540
Congenital Factor Vii Deficiency	Ovarian cyst, Menorrhagia, Epistaxis	ORPHA:327
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Glucose-Galactose Malabsorption	Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss	ORPHA:35710
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Campomelic Dysplasia	Depressed nasal bridge, Respiratory insufficiency, Abnormality of the sense of smell, Tracheomala...	ORPHA:140
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Microcephaly, Cryptorchidism, Dyspla...	OMIM:151050
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Pancytopenia, Anorexia, Phimosis, Dyspnea, Wheezing, Pn...	ORPHA:99921
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinem...	OMIM:251100
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:314769
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Ast...	ORPHA:100079
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentration, Optic...	OMIM:253800
Degcags Syndrome	Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, Agenesis of corpus callosum, Hepat...	OMIM:619488
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Basal ganglia calcification, Uterus didelphys, Primary amenor...	OMIM:146255
Chops Syndrome	Microcephaly, Cryptorchidism, Splenomegaly, Obesity, Anomalous pulmonary venous return, Aspiratio...	OMIM:616368
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Hypoplasia of the thymus, Abnormality of the uterus, Hypocalcemia, Hypoth...	ORPHA:567
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Aredyld Syndrome	Splenomegaly, Hepatomegaly, Cachexia	ORPHA:1133
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Microc...	OMIM:227650
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Small for gestational age, Depressed nasal bridge, Corneal opacity, Broad nasal tip,...	ORPHA:1830
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:476126
Giant Cell Arteritis	Pericarditis, Ataxia, Epistaxis, Mediastinal lymphadenopathy, Recurrent pharyngitis, Optic atroph...	ORPHA:397
Microphthalmia, Syndromic 6	Failure to thrive, Small scrotum, Female hypogonadism, Delayed CNS myelination, Adrenal hypoplasi...	OMIM:607932
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cer...	OMIM:606056
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb...	ORPHA:90060
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s...	OMIM:147250
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Clonus, Hypertonia, Hypocalcemia, Hepatomegaly, Facial palsy, Leuko...	OMIM:259720
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Meckel Syndrome 14	Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Pulmonary hypoplasia, Aplasia of the ut...	OMIM:619879
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hepatic steatosis, Decreased proportion of...	OMIM:619573
Tick-Borne Encephalitis	Elevated hepatic transaminase, Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblo...	ORPHA:297
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Hyperactivity, Decreased response to growth hormone stimulation...	OMIM:615873
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Cerebellar vermis hypoplasia, Elevated circulating c...	ORPHA:157
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, P...	OMIM:236200
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Incoordination, Small for gestational age, Me...	OMIM:277380
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Biliary tract abnormality, Ovarian cy...	OMIM:175200
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea,...	OMIM:612387
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, F...	OMIM:251000
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu...	OMIM:610505
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism	OMIM:252600
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy	ORPHA:2821
Camurati-Engelmann Disease	Hepatomegaly, Ataxia, Cachexia, Anorexia, Splenomegaly, Abnormal subcutaneous fat tissue distribu...	ORPHA:1328
Cap Polyposis	Weight loss	ORPHA:160148
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Unsteady gait, Neurodegeneration, Ataxia	OMIM:615919
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia	ORPHA:664
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media, Ciliary dys...	OMIM:616726
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Immunodeficiency 23	Hemolytic anemia, Somatic sensory dysfunction, Lymphopenia, Ataxia, Abscess, Eosinophilia, Allerg...	OMIM:615816
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Abnormal circulating creatine kinase concentration, Exertional dy...	ORPHA:263297
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Elevated circul...	ORPHA:50918
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis	ORPHA:181
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit...	ORPHA:508
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini...	OMIM:242670
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Babinski sign, Optic atrophy,...	OMIM:609541
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Wide nasal bridge, Weight loss...	ORPHA:3163
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss	ORPHA:729
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis,...	ORPHA:39812
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:963
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir...	ORPHA:713
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectasis, Respiratory insufficiency, Dec...	OMIM:616037
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Cystic Fibrosis	Male infertility, Hepatomegaly, Nasal polyposis, Reduced forced expiratory volume in one second, ...	OMIM:219700
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Opacification of the corneal stroma	OMIM:313400
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Paresthesia, Thr...	ORPHA:71493
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne...	OMIM:300908
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Respiratory ...	OMIM:608647
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Hypospadias, Microcephaly, Dysplastic corpus callosum, Abse...	ORPHA:314679
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Pycnodysostosis	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:763
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Alexander Disease	Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, Self-injurious ...	ORPHA:58
Yellow Nail Syndrome	Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Rhinitis, Hypoplasia of lymphatic ves...	ORPHA:662
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Respiratory insufficiency, Granulomatos...	OMIM:608710
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Bullous Pemphigoid	Weight loss	ORPHA:703
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Multiple Sulfatase Deficiency	Hepatomegaly, Cataract, Anteverted nares, Depressed nasal bridge, Corneal opacity, Splenomegaly, ...	ORPHA:585
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Pulmonary embolism, E...	ORPHA:744
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ...	OMIM:130050
Paroxysmal Hemicrania	Focal sensory seizure with olfactory features, Conjunctival hyperemia, Rhinitis, Rhinorrhea	ORPHA:157835
Familial Nasal Acilia	Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm...	ORPHA:3287
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Multicentric Osteolysis, Nodulosis, And Arthropathy	Narrow nasal bridge, Peripheral opacification of the cornea, Corneal opacity, Bulbous nose, Gait ...	OMIM:259600
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Ambiguous genitalia, Unilateral cryptorchidism, Tracheomalacia, ...	OMIM:618280
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P...	ORPHA:436159
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Oral-pharyngeal dysphagia, Tr...	OMIM:300966
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Recurrent respiratory infections, Inguinal hernia, Absence of Stensen duct, Decreased response to...	OMIM:129900
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Japanese Encephalitis	Hyponatremia, Neutrophilia, Weakness due to upper motor neuron dysfunction, Facial palsy, Dystoni...	ORPHA:79139
Cardiofaciocutaneous Syndrome 4	Cerebellar hypoplasia, Decreased response to growth hormone stimulation test, Thin corpus callosu...	OMIM:615280
Cog2-Cdg	Diffuse cerebral atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:435934
Bartsocas-Papas Syndrome 1	Underdeveloped nasal alae, Bilateral cryptorchidism, Popliteal pterygium, Opacification of the co...	OMIM:263650
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Microcephaly, Chiari malformation, Polyspl...	OMIM:617784
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Ataxia, Anteverted nares, Depressed nasal bridge, Corneal opacity, Cryptorchidism, Abno...	ORPHA:2719
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Immunodeficiency 13	Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent pneumonia, ...	OMIM:615518
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan...	ORPHA:2137
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Juberg-Hayward Syndrome	Abnormal abdomen morphology, Decreased response to growth hormone stimulation test, Microcephaly	OMIM:216100
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Tremor, Abnormality of the pancreas, Ja...	ORPHA:69665
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Small for gestational age, Ataxia, Depressed nasal bridge, Microcytic...	ORPHA:99843
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr...	ORPHA:99901
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Apnea, Elevated circulating alanine aminotransferase concentration, Low plasma citr...	OMIM:261680
Pneumocystosis	Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug...	ORPHA:723
Short-Rib Thoracic Dysplasia 12	Omphalocele, Hepatomegaly, Inguinal hernia, Atelectasis, Splenomegaly, Anencephaly, Respiratory i...	OMIM:269860
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess...	ORPHA:444490
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Cryptorchidism, Anosmia, Single naris, Absent nares, Hyposmia, Iris coloboma	ORPHA:2250
Ciliary Dyskinesia, Primary, 15	Neonatal respiratory distress, Nasal polyposis, Wheezing, Abnormal axonemal organization of respi...	OMIM:613808
Neu-Laxova Syndrome 1	Hydranencephaly, Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly ...	OMIM:256520
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Inguinal hernia, Elevated circulating aspartate aminotransferase concentration, Red...	OMIM:280000
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Exaggerated startle response, Depressed nasal bridge, Broad nasal tip, ...	ORPHA:79255
Norrie Disease	Diabetes mellitus, Cachexia, Microcephaly, Cryptorchidism, Self-injurious behavior, Uterine ruptu...	ORPHA:649
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio...	ORPHA:160
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Ataxia	OMIM:275630
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa...	OMIM:608643
Fucosidosis	Hepatomegaly, Wide nose, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Vacuolated lymphocyt...	OMIM:230000
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Anteverted nares, Prominent nasal bridge, Cachexia, Wide nasal bridge, Spastic tetraplegia, Hyper...	ORPHA:371364
Pachydermoperiostosis	Hepatomegaly, Elevated circulating growth hormone concentration, Impaired temperature sensation, ...	ORPHA:2796
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Microcephaly	OMIM:618348
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Elevated circulating C-reactive protein concentration, Orchitis, Recurrent pharyngitis...	ORPHA:32960
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Diffuse cerebral atrophy, Decreased circulating ceruloplasmin conc...	OMIM:617395
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Walker-Warburg Syndrome	Cataract, Corneal opacity, Cryptorchidism, Optic atrophy, Microcornea, Abnormal circulating creat...	ORPHA:899
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss, Abnormal autonomic nervous system physiology, Autonomic bladder dysfun...	ORPHA:330001
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Polyarteritis Nodosa	Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:767
Simple Cryoglobulinemia	Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Monoclonal...	ORPHA:91139
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbumi...	ORPHA:67
Acute Intermittent Porphyria	Restlessness, Somatic sensory dysfunction, Confusion, Tremor, Depression, Pseudobulbar paralysis,...	ORPHA:79276
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Oculoectodermal Syndrome	Depressed nasal bridge, Wide nasal bridge, Microcornea, Astigmatism, Opacification of the corneal...	OMIM:600268
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Respiratory insuffici...	OMIM:616900
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Cough, Dyspnea, Splenomegaly, ...	OMIM:181000
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Failure to ...	OMIM:276700
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Corneal opacity, Splenomegaly, Recurrent upper respiratory tract infections, Neurod...	OMIM:253220
Gabriele-De Vries Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal...	ORPHA:506358
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Microcephaly, Splenomegaly, Cryptorchidism, Hepatosplenomegaly,...	OMIM:613563
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Intestinal lymphangiectasia, Chylothorax, Cellulitis, Pleural eff...	OMIM:616843
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Pancytopenia, Pneumonia, Decreased...	ORPHA:1855
Pontocerebellar Hypoplasia Type 7	Olivopontocerebellar hypoplasia, Abnormal scrotal rugation, Cryptorchidism, Microcephaly, Abnorma...	ORPHA:284339
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Small for gestational age, Tremor, Growth delay, Neonatal death, Intrauterine growth reta...	OMIM:614052
Pituitary Carcinoma	Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co...	ORPHA:300385
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Resting tremor, Respiratory distress, Maculopapular exanthema, Ski...	ORPHA:319213
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Cerebral atrophy, Testicular atrophy,...	OMIM:222300
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:85414
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Microcephaly, Cholestasis, Hepatosplenomegaly, ...	ORPHA:541423
Osteosarcoma	Weight loss	ORPHA:668
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Hypereosinophilia, Chronic rhinitis...	OMIM:256500
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Eczema, Recurrent skin infections, Keratitis, Cryptorchidism, Recurrent up...	OMIM:308205
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Simp...	OMIM:620001
Hermansky-Pudlak Syndrome	Menometrorrhagia, Epistaxis, Abnormal dental enamel morphology, Anorexia, Dyspnea, Weight loss, P...	ORPHA:79430
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Stiff-Person Syndrome	Exaggerated startle response, Anemia, Opisthotonus	OMIM:184850
Pemphigus Vulgaris	Weight loss	ORPHA:704
Mucopolysaccharidosis Type 1	Sinusitis, Depressed nasal bridge, Abnormality of the tonsils, Corneal opacity, Apnea, Abnormal n...	ORPHA:579
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Intermittent hyperventilation,...	ORPHA:348
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia...	OMIM:614527
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplastic anterio...	ORPHA:171680
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity	OMIM:176500
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest...	OMIM:260400
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Hypospadias, Absent septum pellucidum, Abnormal cortical gyration,...	OMIM:236680
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Aggressive behavior, Tremor, Inabi...	ORPHA:86309
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Exaggerated startle response, Broad-based gait, Anteverted nares, Ataxia, U...	ORPHA:438216
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Failure to thrive, Inguinal hernia, Diffuse cerebral atrophy,...	ORPHA:83617
Noonan Syndrome	Hepatomegaly, Hypogonadotropic hypogonadism, Cryptorchidism, Pulmonary artery stenosis, Abnormali...	ORPHA:648
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Meckel Syndrome, Type 3	Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation, Hepatic fibrosis...	OMIM:607361
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:212138
Kapur-Toriello Syndrome	Hypoplasia of penis, Pachygyria, Dysplastic corpus callosum, Hypoplastic labia majora, Failure to...	ORPHA:2328
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:251110
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Elevated hepatic transaminase, Hypertyrosinemia, Delayed CNS myelination, Ata...	OMIM:124000
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig...	OMIM:616005
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Hepatoblastoma, Hypothy...	ORPHA:116
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Adrenomyodystrophy	Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis	ORPHA:977
Stiff Person Spectrum Disorder	Rigidity, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Tremor, Cranial ner...	ORPHA:276621
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti...	ORPHA:331235
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Short stature, Postnatal growth retardation, Tremor, Abnormal pyramidal sign, Abnormality...	OMIM:612199
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Painless fractures due to injury	OMIM:201300
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra...	OMIM:131100
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100080
Argininosuccinic Aciduria	Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami...	OMIM:207900
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis, Leukopenia, Cholecys...	ORPHA:99827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Elevated circulating creatine kinase concentra...	OMIM:236670
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit...	ORPHA:2239
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
Alpha-Mannosidosis, Infantile Form	Cerebellar atrophy, Optic disc pallor, Pancytopenia, Cataract, Ataxia, Depressed nasal bridge, Co...	ORPHA:309282
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Cachexia	ORPHA:2774
Schwartz-Jampel Syndrome	Hip contracture, Inguinal hernia, Apnea, Elevated circulating creatine kinase concentration, Cach...	ORPHA:800
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Facial palsy, Hypercapnia, Elevated circulating creatine kinase con...	OMIM:164310
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Abnormal cerebral white matter morphology, Cerebellar hypoplasia, Abnormal...	ORPHA:352682
Ring Chromosome 10 Syndrome	Hypocalcemia, Aganglionic megacolon, Wide nasal bridge, Cachexia	ORPHA:1438
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Inguinal hernia, Delayed CNS myelination, Hypospadias, Congenit...	OMIM:135900
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Myasthenic Syndrome, Congenital, 22	Decreased response to growth hormone stimulation test	OMIM:616224
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Prominent nasal bridge, Delayed peripheral myelination, Underdeveloped nasal ala...	ORPHA:364577
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Hyperactivity, Olivopontocerebellar hypoplasia, Delayed myelination, Aplasia of ...	ORPHA:457284
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv...	OMIM:612852
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci...	OMIM:300942
Listeriosis	Brain abscess, Somatic sensory dysfunction, Liver abscess, Ataxia, Abscess, Tremor, Jaundice, Per...	ORPHA:533
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Anteverted nares, Clonus, Depressed nasal bridge, Apnea, Optic atro...	OMIM:617301
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ...	OMIM:214800
Juvenile Temporal Arteritis	Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Hypertonia, Cirrhosis, Brain atrophy, Spasticity,...	OMIM:616539
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Cardio...	ORPHA:96191
Systemic Capillary Leak Syndrome	Leukocytosis, Pancreatitis, Weight loss	ORPHA:188
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Inguinal hernia, Decreased response to growth hormone stimulation test, Supernumerary nipple, Lar...	OMIM:213980
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Recurrent respiratory i...	OMIM:614162
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve...	OMIM:186580
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Tremor, Cranial ner...	ORPHA:29072
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Small for gestational age, Absent septum pellucidum, Microcephaly,...	OMIM:194190
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Lymphopenia, Aplasia o...	OMIM:102700
Thrombocytopenia-Absent Radius Syndrome	Delayed CNS myelination, Cerebellar vermis hypoplasia, Eosinophilia, Pancreatic cysts, Thrombocyt...	OMIM:274000
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:324964
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Kallmann Syndrome-Heart Disease Syndrome	Bilateral cryptorchidism, Decreased testicular size, Partial anosmia, Total anosmia	ORPHA:2326
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Brain atrophy	OMIM:620114
Pituitary Hormone Deficiency, Combined, 3	Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati...	OMIM:221750
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Ectopia lentis, Bronchiectasis, Chronic otitis media, Emphysema, Chronic sinusitis	OMIM:604571
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone ...	OMIM:608747
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency, Steatorrhea	ORPHA:309031
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hypothyroidism, Hepato...	OMIM:243800
Oeis Complex	Omphalocele, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal...	OMIM:258040
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Hartsfield Syndrome	Hypospadias, Microcephaly, Cryptorchidism, Gonadotropin deficiency, Agenesis of corpus callosum, ...	OMIM:615465
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Pneumonia, Bronchitis, Elevated circulating C-reactive pro...	OMIM:619381
Transketolase Deficiency	Hepatomegaly, Secondary amenorrhea, Self-injurious behavior, Compulsive behaviors, Attention defi...	ORPHA:488618
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Jaundice, Schistocytosis, Elevated circulating creatinine concentration,...	OMIM:274150
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Cerebral atrophy, Decreased circulati...	OMIM:616084
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Rhyns Syndrome	Anterior hypopituitarism, Pituitary hypothyroidism, Decreased response to growth hormone stimulat...	OMIM:602152
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N...	OMIM:232220
Interstitial Cystitis	Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ...	ORPHA:37202
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Nocardiosis	Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Anorexia, Productive cough, Nonpro...	ORPHA:31204
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein a...	OMIM:606763
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Abnormal co...	OMIM:610829
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal...	OMIM:618160
Hereditary Acrokeratotic Poikiloderma	Pustule, Eczema, Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke...	OMIM:617321
Joubert Syndrome 23	Dysplastic corpus callosum, Tachypnea, Apnea, Cerebellar dysplasia	OMIM:616490
Occipital Horn Syndrome	Jaundice, Hepatitis, Cholestasis, Abnormality of the sense of smell, Esophagitis	ORPHA:198
Tangier Disease	Orange discolored tonsils, Peripheral axonal neuropathy, Hypertriglyceridemia, Corneal opacity, C...	ORPHA:31150
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100082
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Leu...	OMIM:220110
Arima Syndrome	Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas...	OMIM:243910
Simpson-Golabi-Behmel Syndrome	Omphalocele, Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Hypospadias, Camptodactyly of fi...	ORPHA:373
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Acrootoocular Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Microcephaly, G...	ORPHA:2980
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Hepatomegaly, Elevated circulating creatine kinase concentration, Clonus	OMIM:619424
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Absent septum pellucidum, Abnormal cortical gyration, Hiatus hernia, Abnormality of...	ORPHA:2538
Limb-Mammary Syndrome	Absent nipple, Primary amenorrhea, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasia, Hyp...	ORPHA:69085
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth...	OMIM:618157
Waardenburg Syndrome, Type 4C	Aganglionic megacolon, Cryptorchidism, Anosmia, Blue irides, Heterochromia iridis	OMIM:613266
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Diffuse cerebral atrophy, Abnormal myelination, Small for gestational age, Secondary microcephaly...	ORPHA:289266
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tach...	OMIM:239200
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Asplenia	OMIM:618948
Fanconi Anemia, Complementation Group L	Delayed CNS myelination, Bone marrow hypocellularity, Cerebellar hypoplasia, Aplasia of the uteru...	OMIM:614083
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Incoordination, Decreased number of large peripheral myelinated nerve fi...	OMIM:223900
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Neonatal respiratory distress, Cryptorchidism, Aortopulmonary window, Pulmonary art...	OMIM:620025
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Lissencephaly,...	OMIM:614833
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Neonatal respiratory distress, Hypospadias, Flexion contracture, Lateral ventricle dilatation, Sm...	OMIM:619479
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test	ORPHA:436174
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin...	OMIM:619525
Mosaic Variegated Aneuploidy Syndrome 2	Small for gestational age, Decreased response to growth hormone stimulation test, Microcephaly, A...	OMIM:614114
Ige Responsiveness, Atopic	Asthma, Eczema, Allergic rhinitis	OMIM:147050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Paresthesia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Ataxia, Splenomegaly, Hypohidrosis, Hypogonadism, Arthrogryposis multiplex congenita	ORPHA:163746
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Choanal atresia, Cryptorchidism, Anosmia, Keratoconjunctivitis, Arth...	ORPHA:2363
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyroiditis, Uteri...	ORPHA:109
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, Hyperechogenic pancreas, Failure to th...	OMIM:617941
Loeffler Endocarditis	Left ventricular hypertrophy, Eosinophilia, Weight loss	ORPHA:75566
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Hyperactivity, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, D...	ORPHA:1934
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100075
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Cerebral edema	OMIM:201450
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233710
Oculoskeletodental Syndrome	Hypercalcemia, Dysplastic corpus callosum, Hypocalcemia, Focal white matter lesions, Enamel hypop...	ORPHA:557003
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ...	OMIM:604292
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Septooptic Dysplasia	Diabetes insipidus, Absent septum pellucidum, Decreased response to growth hormone stimulation te...	OMIM:182230
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Tetrasomy 12P	Short nose, Anteverted nares, Cachexia	ORPHA:884
Semilobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Microce...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Microce...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Microce...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Microce...	ORPHA:93924
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b...	ORPHA:529962
Hypercholesterolemia, Familial, 1	Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus	OMIM:143890
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ca...	OMIM:608800
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Glioma, Choanal atresia, Lon...	OMIM:251260
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Apnea, Tremor, Splenomegaly, Lymphadenopathy, Hypophosphatemia, Hypocalcemia, Chron...	ORPHA:667
Malignant Atrophic Papulosis	Pain insensitivity, Cataract, Peritonitis, Weight loss, Respiratory failure, Arteritis, Pleural e...	ORPHA:679
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra...	ORPHA:79102
Exstrophy-Epispadias Complex	Bifid scrotum, Omphalocele, Inguinal hernia, Bifid uterus, Microcephaly, Epispadias, Cryptorchidi...	ORPHA:322
Acrodermatitis Enteropathica	Pustule, Corneal erosion, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis,...	ORPHA:37
Pelizaeus-Merzbacher Disease, Connatal Form	Ataxia, Confluent hyperintensity of cerebral white matter on MRI, Macrogyria, Respiratory failure...	ORPHA:280210
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ...	ORPHA:31205
Joubert Syndrome 21	Ataxia, Apnea, Splenomegaly, Dyspnea, Optic atrophy, Megalopapilla, Single naris, Hypoplasia of t...	OMIM:615636
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Depressed nasal bridge, Opacification of the corneal stroma, Cardiomegaly	ORPHA:79280
Bosma Arhinia Microphthalmia Syndrome	Cataract, Choanal atresia, Cryptorchidism, Anosmia, Aplasia of the nose	OMIM:603457
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomeg...	OMIM:130650
Familial Mediterranean Fever	Acute hepatic failure, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Pleuritis, Ascites, ...	ORPHA:342
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Cortical ...	OMIM:613406
Immunodeficiency 58	Recurrent cutaneous abscess formation, Allergic rhinitis, Eczema, Seborrheic dermatitis, Asthma, ...	OMIM:618131
Familial Dysautonomia	Abnormal peritoneum morphology, Hyponatremia, Orthostatic hypotension, Ataxia, Corneal opacity, I...	ORPHA:1764
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment	OMIM:609242
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias...	OMIM:163950
Intermediate Uveitis	Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Tubulointerstitial nephrit...	ORPHA:279914
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Delayed CNS myelination, Cataract, Splenomegaly, Inability to walk, Opt...	OMIM:617913
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Bilateral cryptorchidism, Epispadias, Partial agenesis of...	ORPHA:434179
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Allergic...	ORPHA:183675
Pseudohypoparathyroidism Type 1B	Calcinosis, Decreased response to growth hormone stimulation test, Dyspnea, Pseudohypoparathyroid...	ORPHA:94089
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Depressed nasal bridge, Splenomegaly, Inabili...	ORPHA:576
Isolated Permanent Neonatal Diabetes Mellitus	Ataxia, Weight loss, Apraxia, Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta c...	ORPHA:99885
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Cerebellar vermis hypoplasia, Anteverted nares, Optic nerve hypoplasia, Depress...	ORPHA:495875
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Depressed nasal bridge, Choanal atresia, Portal hypertension, Increased circulating...	OMIM:610199
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Absent external genitalia, Aplasia of the vagina, Pulmonary hypoplasia, Aplasia ...	OMIM:271520
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Apnea	OMIM:210200
Nijmegen Breakage Syndrome	Hemolytic anemia, Abnormality of chromosome stability, Autoimmune hemolytic anemia, Glioma, Depre...	ORPHA:647
Benign Schwannoma	Nasal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cran...	ORPHA:252164
Xq21 Microdeletion Syndrome	Ataxia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defici...	ORPHA:1435
Duplication Of The Pituitary Gland	Microcephaly, Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Decreased bo...	ORPHA:314621
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyra...	OMIM:619179
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenom...	ORPHA:84064
Asthma, Nasal Polyps, And Aspirin Intolerance	Asthma, Nasal polyposis, Aspirin-induced asthma, Bronchoconstriction	OMIM:208550
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia, Aplasia of the uterus	ORPHA:3320
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Dysplastic corpus callosum, Flexion contracture, Ab...	OMIM:617140
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Neonatal respiratory distress, Cerebellar vermis hypoplasia, Hypospadias, Inguinal ...	OMIM:312870
Eec Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Abnormal dental enamel morpho...	ORPHA:1896
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency, Chronic rhinitis	OMIM:615225
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Underdeveloped nasal alae, Cryptorchidism, Biliary t...	OMIM:268300
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Dystonia, Cardiomegaly, Neonatal...	ORPHA:51
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	OMIM:173100
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Periventricular leukomalacia, Unilateral lung agenesis, Failure to thrive in ...	ORPHA:500150
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Mpdu1-Cdg	Decreased serum insulin-like growth factor 1, Elevated circulating creatine kinase concentration,...	ORPHA:79323
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, Lymphadenopathy, Hepato...	ORPHA:85408
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Delayed CNS myelination, Exaggerated startle response, CNS hypomyelination, L...	OMIM:618367
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Clonus, Tremor, Jaundice, Growth delay, Hypertonia, Dysphagia, Neonatal death, Failure ...	OMIM:617248
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Optic atrophy, Lateral ventricle dilatation, Hyp...	OMIM:612301
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia, Increased circulating antibod...	ORPHA:77261
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity, Rectovaginal fistula, Attention deficit hyperactivity disord...	OMIM:619426
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Neoplasm of the nose, Nasal polyposis, Abnormality of the nose, Biliar...	ORPHA:2869
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Upper airway obstructio...	ORPHA:740
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Perianal...	OMIM:301074
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Anosmia	OMIM:619718
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Decreased response to growth hormone stimulation test, Microcephaly, Bilateral camptodactyly, Hyp...	OMIM:619234
Noonan Syndrome 9	Cryptorchidism, Prominent corneal nerve fibers	OMIM:616559
Aspartylglucosaminuria	Recurrent respiratory infections, Hepatomegaly, Microcephaly, Vacuolated lymphocytes, Cerebral at...	OMIM:208400
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Microcephaly, Asthma, Obesity...	ORPHA:444077
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Dyspnea, Elevated circulating creatinine concentration, Rhinitis, Increa...	ORPHA:230
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Abnormal liver lobulation, Dandy-Walker malformation	ORPHA:99776
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Skin rash, Cachexia, Optic atrophy, Spasticity, Demyelinating peripheral neuropathy	ORPHA:220295
Pai Syndrome	Iris coloboma, Nasal polyposis, Depressed nasal bridge, Midline defect of the nose	ORPHA:1993
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Delayed CNS myelination, Decreased response to growth hormone stimulation test, Microcephaly, Res...	OMIM:617260
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Aganglionic megacolon, Choanal atresia, Corneal opacity, Eczema, Keratitis, Cryptor...	ORPHA:2273
Juvenile Dermatomyositis	Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p...	ORPHA:93672
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Decreased response to growth hormone stimulation test, Flexion contracture, D...	OMIM:616007
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cerebral edema, Hepatic failure,...	OMIM:611126
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Decreased nasal nitric oxide, Abdominal situs inversus, Cough, Chronic sinusitis	OMIM:619607
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, O...	ORPHA:353281
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Joubert Syndrome 38	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased serum insulin-like growth fa...	OMIM:619476
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Elevated hepatic transaminase, Failure to thrive, Hypertyrosinemia, Conjuga...	OMIM:617156
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	ORPHA:67045
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Lipoid Proteinosis	Pustule, Nasal polyposis, Acne, Dystonia	ORPHA:530
Frontorhiny	Pericallosal lipoma, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Hypopitu...	ORPHA:391474
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Neurotrophic Keratopathy	Allodynia, Hyperesthesia	ORPHA:137596
Juvenile Polyposis Of Infancy	Refractory anemia, Subcutaneous lipoma, Cachexia, Hypoalbuminemia, Freckled genitalia, Anemia	ORPHA:79076
Aspartylglucosaminuria	Recurrent respiratory infections, Hepatomegaly, Inguinal hernia, Splenomegaly, Macroorchidism, Um...	ORPHA:93
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c...	OMIM:160980
Wiedemann-Steiner Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Microcephaly, Aggressive be...	ORPHA:319182
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti...	ORPHA:95455
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Nongranulomatous uveitis, Cataract, Anterior uveitis, Skin rash, ...	ORPHA:91500
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Iron deficiency anemia, Sma...	ORPHA:100078
Dworschak-Punetha Neurodevelopmental Syndrome	Elevated circulating creatine kinase concentration, Microcephaly, Dysplastic corpus callosum, Col...	OMIM:619955
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine ki...	OMIM:175780
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Iris coloboma	OMIM:155145
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Multiple mucosal neuromas, Aganglionic megacolon, Hypercalcemia, ...	ORPHA:653
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Micro...	OMIM:107480
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Reduced cerebral white matter volume, Microcephaly, Abnormal myelination, Thin corpus callosum, C...	OMIM:617333
Diaphanospondylodysostosis	Abnormal liver lobulation	OMIM:608022
Cystic Fibrosis	Elevated hepatic transaminase, Nasal polyposis, Sinusitis, Reduced forced expiratory volume in on...	ORPHA:586
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi...	ORPHA:488627
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma	ORPHA:330064
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexi...	OMIM:619127
Blau Syndrome	Pericarditis, Cataract, Skin rash, Facial palsy, Keratitis, Splenomegaly, Retrobulbar optic neuri...	ORPHA:90340
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hip contracture, Flexion contracture of finger, Hypercapnia, An...	ORPHA:2020
Vascular Ehlers-Danlos Syndrome	Uterine prolapse, Inguinal hernia, Hypospadias, Cryptorchidism, Pneumothorax, Cystocele, Cigarett...	ORPHA:286
Glycogen Storage Disease Ic	Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemi...	OMIM:232240
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Fryns-Smeets-Thiry Syndrome	Narrow nasal bridge, Prominent nasal bridge, Cachexia	ORPHA:2058
Pallister-Killian Syndrome	Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Apneic episodes in infancy, ...	OMIM:601803
Noonan Syndrome 10	Left ventricular hypertrophy, Cryptorchidism, Pleural effusion, Prominent corneal nerve fibers	OMIM:616564
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Splenomegaly, Hydrometrocolpos, Vaginal atresia	OMIM:617088
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Weig...	ORPHA:79078
Progressive Multifocal Leukoencephalopathy	Somatic sensory dysfunction, Decreased proportion of CD8-positive T cells, Abnormal oligodendrogl...	ORPHA:217260
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Weight loss, Hypophosphatemia, Hypokalemia, Decreased circulating c...	ORPHA:3337
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuri...	OMIM:229600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn...	ORPHA:353277
Malt Lymphoma	Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy	ORPHA:52417
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Bifid uterus	ORPHA:2736
Okamoto Syndrome	Omphalocele, Microcephaly, Bifid uterus, Splenomegaly, Hypoplasia of the corpus callosum	ORPHA:2729
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Eosinophilic infiltration of the esophagus, Eosinophilic microabscess formatio...	ORPHA:411696
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Anteriorly displaced genit...	OMIM:276820
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Rhinitis, Short ...	OMIM:305100
Spondyloepimetaphyseal Dysplasia, Krakow Type	Eczema, Allergic rhinitis, Asthma, Chiari malformation, Annular pancreas	OMIM:618162
Stickler Syndrome	Cataract, Anteverted nares, Depressed nasal bridge, Cachexia, Ectopia lentis, Hemiplegia/hemipare...	ORPHA:828
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Bicarbonaturia, Hypokalemia, Failure to thrive	ORPHA:47159
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Respiratory insufficiency, Enthesitis, Weight loss, Arthrit...	ORPHA:29207
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder,...	OMIM:619934
Dermatomyositis	Recurrent respiratory infections, Abnormal eosinophil morphology, Abnormal pulmonary interstitial...	ORPHA:221
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Rhinitis, Depressed nasal bridge	OMIM:614941
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration, Pancreatitis	ORPHA:93126
Holoprosencephaly 7	Omphalocele, Microcephaly, Partial agenesis of the corpus callosum, Panhypopituitarism, Fusion of...	OMIM:610828
Primrose Syndrome	Ataxia, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Cryp...	OMIM:259050
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Microcephaly, Dysplastic corpus callosum, Head-banging, Hypoplasia of the corpus callosum, Hypoth...	OMIM:618569
Marfan Syndrome	Flat cornea, Spontaneous pneumothorax, Arthralgia/arthritis, Cachexia, Lens luxation, Ectopia len...	ORPHA:558
Goodpasture Syndrome	Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weight loss, Increased bl...	OMIM:233450
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites	ORPHA:75565
Loeys-Dietz Syndrome	Atypical scarring of skin, Camptodactyly of finger, Uterine rupture	ORPHA:60030
Homozygous Familial Hypercholesterolemia	Dyspnea, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic s...	ORPHA:391665
Seckel Syndrome	Cachexia	ORPHA:808
Thalidomide Embryopathy	Chronic rhinitis	ORPHA:3312
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Anteverted nares, Midline defect of the nose, Cachexia	ORPHA:1969
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Anteverted nares, Broad nasal tip, Long nose, Cryptorchidism, Bulbo...	OMIM:619522
Axenfeld-Rieger Syndrome, Type 1	Hypospadias, Decreased response to growth hormone stimulation test	OMIM:180500
Progeroid Short Stature With Pigmented Nevi	Allergic conjunctivitis, Cataract, Small for gestational age, Allergic rhinitis	OMIM:176690
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Hepatic arteriovenous malformation, Growth delay, Extrahepatic portal h...	ORPHA:2929
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation	OMIM:175050
Telangiectasia, Hereditary Hemorrhagic, Type 2	Hepatic arteriovenous malformation, Cirrhosis	OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 1	Hepatic arteriovenous malformation, Cirrhosis	OMIM:187300

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 Npc1

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 Npc1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption.	Science (New York, N.Y.) (June 2018)	Npc1l1^{tm1a(EUCOMM)Hmgu}	29880681
The clathrin adaptor Numb regulates intestinal cholesterol absorption through dynamic interaction with NPC1L1.	Nature medicine (December 2013)	Npc1l1^{tm1a(EUCOMM)Hmgu}	24336247

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
Npc1^{tm83360(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Npc1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Npc1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Npc1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Npc1 MGI:1097712

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E18.5

Echo

X-ray

X-ray

X-ray

Embryo LacZ

Adult LacZ

Auditory Brain Stem Response

Human diseases caused by Npc1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data