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Gene: Ctsd MGI:88562

Gene Summary

Name:

cathepsin D

Synonyms:

CD, CatD

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating aspartate transaminase level	Ctsd^{tm1b(EUCOMM)Wtsi}	HET	Early adult	4.48×10^-11
preweaning lethality, incomplete penetrance	Ctsd^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased hematocrit	Ctsd^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.65×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Ctsd 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 Ctsd (1 diseases)
Human diseases predicted to be associated with Ctsd (1160 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ceroid Lipofuscinosis, Neuronal, 10		Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi...	OMIM:610127

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

Disease	Matching phenotypes	Source
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Ceroid Lipofuscinosis, Neuronal, 3	Blindness, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Increa...	OMIM:204200
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Cln3 Disease	Bull's eye maculopathy, Vacuolated lymphocytes, Myoclonic seizure, Loss of ambulation, Extrapyram...	ORPHA:228346
Spinocerebellar Ataxia 17	Cerebellar atrophy, Apraxia, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Ag...	OMIM:607136
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocytes, Optic ...	OMIM:256730
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Myopia, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Brux...	OMIM:617435
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Apraxia, Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykines...	OMIM:221820
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Blindness, Incoordination, Ataxia, Visual loss, Optic atrophy, Truncal ataxia, Dysmetria, Gait at...	OMIM:601338
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Huntington Disease	Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ...	ORPHA:399
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-...	ORPHA:36387
Sandhoff Disease	Hepatomegaly, Blindness, Ataxia, Splenomegaly, Seizure, Cherry red spot of the macula, Failure to...	ORPHA:796
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Blindness, Ataxia, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary r...	OMIM:610951
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, Slurre...	OMIM:300423
Atypical Pantothenate Kinase-Associated Neurodegeneration	Violent behavior, Tongue atrophy, Blindness, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea,...	ORPHA:216873
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar...	ORPHA:59181
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weigh...	ORPHA:248111
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Facial palsy, Abnormal retinal morphology, Optic atrophy, Cerebral at...	ORPHA:254886
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Seizure...	ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Dysphagia, Gait at...	OMIM:619862
Leber Optic Atrophy And Dystonia	Visual loss, Optic atrophy, Bradykinesia, Athetosis, Leber optic atrophy, Dysphagia, Spasticity, ...	OMIM:500001
Infantile Neuronal Ceroid Lipofuscinosis	Generalized-onset seizure, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysmet...	ORPHA:79263
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Aggressiv...	OMIM:617225
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Severe Canavan Disease	Blindness, Bilateral tonic-clonic seizure, Oral-pharyngeal dysphagia, Inability to walk, Babinski...	ORPHA:314911
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno...	ORPHA:240103
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri...	ORPHA:90103
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa...	OMIM:615157
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Blindness, Optic atrophy, Seizure, Severely reduced visual acuity, Spasticity	OMIM:309555
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Seizure, Gliosis, Neuronal loss ...	OMIM:143100
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Cerebral ...	ORPHA:329284
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal...	ORPHA:98762
Bietti Crystalline Dystrophy	Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec...	ORPHA:41751
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Neuropathy, Ataxia, And Retinitis Pigmentosa	Blindness, Ataxia, Retinal pigment epithelial mottling, Seizure, Corticospinal tract atrophy, Rod...	OMIM:551500
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ...	OMIM:603516
Huntington Disease-Like 1	Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ...	ORPHA:157941
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss...	OMIM:613662
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:228169
Spinocerebellar Ataxia 2	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity...	OMIM:183090
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Paraparesis, Inability to walk, Oro...	OMIM:617854
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Abnormality of vision, ...	ORPHA:282166
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Behr Syndrome	Cerebellar atrophy, Blindness, Ataxia, Tremor, Babinski sign, Optic atrophy, Truncal ataxia, Hypo...	OMIM:210000
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Dystonia 16	Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait...	OMIM:612067
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual...	ORPHA:85128
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Diencephalic Syndrome	Cachexia, Optic atrophy, Hyperhidrosis, Decreased body weight, Macrotia	ORPHA:1672
Narp Syndrome	Optic disc pallor, Abnormal visual field test, Blindness, Ataxia, Constriction of peripheral visu...	ORPHA:644
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Severe temper tantrums, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Bradykinesi...	OMIM:619052
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Chorea, Optic atrophy, Slurred speech, Dysphagia, Dysmetria,...	ORPHA:98755
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Babinski sign, Impaired distal vibr...	OMIM:128230
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Ob...	OMIM:300055
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl...	ORPHA:306692
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Progressive spastic paraparesis, C...	ORPHA:506353
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ...	OMIM:606693
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dysphagia	OMIM:128235
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Restlessness, Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Seiz...	ORPHA:13
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive...	OMIM:619827
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Cachexia, Progressive hearing impairment, Abnormal autonomic ner...	ORPHA:97229
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di...	ORPHA:314632
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Generalized myoclonic sei...	OMIM:617836
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Seizure, Shuf...	OMIM:615528
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Vacuolated lymphocyte...	OMIM:256731
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gastroenteritis	OMIM:615615
Autosomal Dominant Spastic Paraplegia Type 3	Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle...	ORPHA:100984
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ...	OMIM:613750
X-Linked Neurodegenerative Syndrome, Hamel Type	Seizure, Spasticity, Blindness	ORPHA:85336
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co...	OMIM:616544
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:98856
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di...	OMIM:600116
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Large central visual field defect, Blindness, Poor motor c...	ORPHA:79264
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Seizure, Hypertonia	OMIM:618824
Striatal Degeneration, Autosomal Dominant 1	Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Degeneration of the striatum, Gait di...	OMIM:609161
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait disturbance, C...	OMIM:615643
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Late-Infantile/Juvenile Krabbe Disease	Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Upper motor neuron dysfunction, Clum...	ORPHA:206443
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A...	OMIM:614436
Late Infantile Neuronal Ceroid Lipofuscinosis	Myoclonic seizure, Abnormal repetitive mannerisms, Retinal degeneration, Myopia, Hyperactivity, A...	ORPHA:168491
Machado-Joseph Disease	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculat...	OMIM:109150
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at...	ORPHA:98768
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Cerebellar atrophy, De...	OMIM:302800
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Blindness, Cerebral atrophy, Seizure, Spasticity	OMIM:617899
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Ravine Syndrome	Atrophy/Degeneration affecting the brainstem, Failure to thrive, Abnormal auditory evoked potenti...	ORPHA:99852
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Facial palsy, Parkinsonism, Impaired distal proprioception, Rigidity, Diplopi...	OMIM:258450
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral...	OMIM:600138
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Orthostatic hypotension, Restless legs, Rigidity, Bradykinesia, Gait disturbance,...	OMIM:616710
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Decreased motor nerve conduction velocity, Peripheral ...	ORPHA:298
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Retinitis Pigmentosa 59	Hepatomegaly, Constriction of peripheral visual field, Cryptorchidism, Rod-cone dystrophy, Nyctal...	OMIM:613861
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl...	ORPHA:521406
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm...	ORPHA:101150
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Choroideremia	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d...	OMIM:303100
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Nocturnal seizures,...	OMIM:619725
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Blindness, Inability to walk, Spasticity, Weight loss, Opisthotonus, Pigmentar...	ORPHA:216866
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Parkinsonism with favorable respo...	ORPHA:240085
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N...	OMIM:620342
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Blindness, Megaloblastic anemia, Cerebral atrophy, Seizure, Hypertonia, Hyperk...	OMIM:236270
Cach Syndrome	Cerebellar atrophy, Blindness, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Trunc...	ORPHA:135
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Sensorineural hearing impairment, Cachexia	ORPHA:1144
Macular Dystrophy, Patterned, 1	Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:169150
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness, Megaloblastic anemia, Poor coordination, Cerebral atrophy, Seizure, Gait disturbance, ...	OMIM:250940
Retinopathy Of Prematurity	Blindness, Small for gestational age, Retinal arteriolar tortuosity, Abnormal retinal vascular mo...	ORPHA:90050
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration, Cleft palate, Brachial plexus neuropathy, Lo...	OMIM:162100
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Cerebellar atrophy, Cachexia, Narrow palate, Facial di...	OMIM:618186
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi...	OMIM:180210
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a...	OMIM:613731
Alpers-Huttenlocher Syndrome	Blindness, Ataxia, Bilateral tonic-clonic seizure, Paraparesis, Focal-onset seizure, Choreoatheto...	ORPHA:726
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De...	OMIM:619279
Christianson Syndrome	Cerebellar atrophy, Cachexia, Gastroesophageal reflux, Neuronal loss in central nervous system, D...	ORPHA:85278
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Babinski sign, Protein-losing enteropathy	OMIM:619063
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Decreased nerve conduction velocity, A...	OMIM:604320
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Bilateral tonic-clonic seizure, Rigidity...	OMIM:619911
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s...	OMIM:618418
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea, Gait disturbance, Blindness, Dysphagia	OMIM:607674
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia, Abnormality of the spleen, Tracheoesophageal fi...	ORPHA:93941
Krabbe Disease	Diffuse cerebral atrophy, Blindness, Autoimmune thrombocytopenia, Decreased nerve conduction velo...	OMIM:245200
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Scotoma, Tremor, Optic atrophy, Reduced visual acuity, Abnormality of extrapyr...	OMIM:165300
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ...	OMIM:608051
Multiple System Atrophy, Cerebellar Type	Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neuromuscular dysphagi...	ORPHA:227510
Mitochondrial Membrane Protein-Associated Neurodegeneration	Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Dysphagia, Bradykinesia, Gait ...	ORPHA:289560
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cerebral atrop...	OMIM:300894
Migraine, Familial Hemiplegic, 3	Blindness, Hemiparesis, Photophobia, Seizure, Hemiplegia	OMIM:609634
Hsd10 Disease, Infantile Type	Restlessness, Diffuse cerebral atrophy, Blindness, Spastic tetraparesis, Visual loss, Gastrointes...	ORPHA:391428
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involuntary movements, T...	ORPHA:454887
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Loss of ambulation, Retinal ...	ORPHA:157850
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he...	OMIM:243150
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Retinitis Pigmentosa 89	Constriction of peripheral visual field, Retinal thinning, Micronodular cirrhosis, Nyctalopia, Es...	OMIM:618955
Leber Congenital Amaurosis 2	Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac...	OMIM:204100
Moynahan Syndrome	Sensorineural hearing impairment, Cachexia	ORPHA:2574
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical absence status...	ORPHA:225147
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Babinski sign, Optic atrophy, Cerebral at...	OMIM:610217
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Spastic Paraplegia 82, Autosomal Recessive	Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Babinski sign, Optic ...	OMIM:618770
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Spastic Paraplegia 81, Autosomal Recessive	Lower limb spasticity, Cerebral visual impairment, Inability to walk, Babinski sign, Optic atroph...	OMIM:618768
Retinitis Pigmentosa 29	Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:612165
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Nyctalopia, Bil...	ORPHA:79301
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Protruding tongue, Chorea, Hand tre...	ORPHA:53351
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Hyperacti...	OMIM:234200
Sorsby Fundus Dystrophy	Macular dystrophy, Blindness, Chorioretinal atrophy	OMIM:136900
Spinocerebellar Ataxia 48	Cerebellar atrophy, Cachexia, Dysphagia	OMIM:618093
Retinitis Pigmentosa Inversa With Deafness	Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Alexander Disease Type I	Cerebellar atrophy, Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br...	OMIM:606159
Childhood-Onset Nemaline Myopathy	Waddling gait, Neuromuscular dysphagia, Clumsiness, Bradykinesia, Facial diplegia, Poor fine moto...	ORPHA:171439
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular dystrophy, Blindness, Reduced visual acuity	OMIM:601553
Leukoencephalopathy With Vanishing White Matter 1	Blindness, Decreased circulating progesterone, Unsteady gait, Optic atrophy, Seizure, Primary gon...	OMIM:603896
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c...	OMIM:617241
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Leber Congenital Amaurosis 1	Hepatomegaly, Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Ph...	OMIM:204000
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula...	OMIM:136550
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bli...	OMIM:609033
Mitochondrial Dna Depletion Syndrome 18	Failure to thrive, Axonal degeneration, Microcytic anemia	OMIM:618811
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo...	OMIM:300400
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Blindness, Generalized-onset seizure, Focal hyperkinetic seizure, Multi...	ORPHA:77299
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,...	OMIM:605670
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia...	OMIM:137440
Classic Progressive Supranuclear Palsy Syndrome	Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal pyramidal sign, Bl...	ORPHA:240071
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Cerebral cortical hemiatrophy, Brain atrophy, Di...	ORPHA:306669
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Gastroes...	ORPHA:238455
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Tremor, Rigidity, Bradykinesia, Seizure, Limb hypertonia	ORPHA:70594
Cronkhite-Canada Syndrome	Intestinal polyposis, Cachexia, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous polyp...	ORPHA:2930
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair...	ORPHA:99947
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys...	ORPHA:240094
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu...	OMIM:617781
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Myoclon...	OMIM:616732
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, C...	OMIM:604168
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Chorea, Ataxia	OMIM:618683
Leber Congenital Amaurosis 12	Congenital blindness, Abnormality of macular pigmentation	OMIM:610612
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Blindness, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Seizure,...	OMIM:598500
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment...	ORPHA:97341
Tay-Sachs Disease	Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the ...	ORPHA:845
Retinal Capillary Malformation	Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre...	ORPHA:71213
Isolated Succinate-Coq Reductase Deficiency	Blindness, Ataxia, Generalized myoclonic seizure, Spastic tetraparesis, Babinski sign, Reduced vi...	ORPHA:3208
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu...	OMIM:304020
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness, Ataxia, Myoclonic seizure, Seizure, Myoclonus, Brain atrophy, Lethargy, Spasticity	OMIM:618225
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Portal hypertension, Micronodul...	ORPHA:309854
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, Gait ataxia...	OMIM:618877
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua...	OMIM:604393
Ataxia-Telangiectasia	Failure to thrive, Diabetes mellitus, Ataxia, Female hypogonadism, Tremor, Inability to walk, Slu...	OMIM:208900
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Canavan Disease	Abnormality of retinal pigmentation, Blindness, Optic atrophy, Seizure, Hypertonia, Gastroesophag...	ORPHA:141
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Bradykinesia, Poor fine motor coordination, High palate, Difficulty walking	ORPHA:171442
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Axonal degeneration	OMIM:618138
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R...	OMIM:614181
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder	OMIM:618878
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Axonal degeneration	OMIM:616155
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Impulsivity, Akinesia, Rigidity, Diplopia, Weight loss, Bradykinesi...	ORPHA:411602
Congenital Disorder Of Glycosylation, Type In	Hepatomegaly, Ataxia, Reduced visual acuity, Cerebral atrophy, Seizure, Myoclonus, Spasticity, Fa...	OMIM:612015
Nephronophthisis 15	Seizure, Blindness, Obesity, Retinal degeneration	OMIM:614845
Alg6-Cdg	Ataxia, Puberty and gonadal disorders, Rod-cone dystrophy, Jaundice, Increased circulating androg...	ORPHA:79320
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:613643
Manganese Poisoning	Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, ...	ORPHA:306682
Parkinson Disease 6, Autosomal Recessive Early-Onset	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:605909
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hyperactivity disorde...	OMIM:617384
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Gait disturbance, Dysph...	OMIM:168601
Bardet-Biedl Syndrome 21	Hypoplasia of the fovea, Cone/cone-rod dystrophy, Myopia, Retinal atrophy, Retinal thinning, Blin...	OMIM:617406
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he...	OMIM:617519
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Rett Syndrome	Limb apraxia, Inability to walk, Bradykinesia, Seizure, Agitation, Cholecystitis, Abnormal autono...	ORPHA:778
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph...	OMIM:609913
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co...	OMIM:607921
Renpenning Syndrome	Cachexia, High, narrow palate, Sensorineural hearing impairment, Cleft palate, Round ear, Macroti...	ORPHA:3242
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Retinal dystrophy, Nyctalopia, Reduced visual acuity, Truncal obesity, Spasticity, Childhood-onse...	OMIM:610156
Flynn-Aird Syndrome	Progressive sensorineural hearing impairment, Cerebral cortical atrophy, Cachexia, EEG abnormality	ORPHA:2047
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Photophobia, Truncal obes...	ORPHA:75858
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Cerebellar atrophy, Restless legs, Blindness, Ataxia, Somatic sensory dy...	ORPHA:94147
Leber Congenital Amaurosis 14	Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Falls, Cong...	OMIM:613341
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Ataxia-Telangiectasia	Failure to thrive, Abnormality of chromosome stability, Ataxia, Diabetes mellitus, Tremor, Polycy...	ORPHA:100
Achromatopsia	Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m...	ORPHA:49382
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of peri...	OMIM:615490
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:601718
Gm1 Gangliosidosis	Tremor, Gastroesophageal reflux, Decerebrate rigidity, Cherry red spot of the macula, Ataxia, Bil...	ORPHA:354
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho...	OMIM:608161
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:610359
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, G...	ORPHA:98760
Postencephalitic Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:97349
3-Methylglutaconic Aciduria, Type Iii	Ataxia, Chorea, Babinski sign, Optic atrophy, Reduced visual acuity, Abnormality of extrapyramida...	OMIM:258501
Retinitis Pigmentosa 35	Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia	OMIM:610282
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,...	ORPHA:215
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebral visual impairment, Tremor, Gait ataxia, Abnormality of the liver, Hypertonia, Gastroesop...	ORPHA:254892
Parkinsonian-Pyramidal Syndrome	Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki...	ORPHA:171695
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin...	OMIM:617123
Early-Onset X-Linked Optic Atrophy	Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Babinski sign, Optic atr...	ORPHA:98890
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Gastroesophageal reflux, Attention deficit hyperactivity disorder	OMIM:615401
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Somatic sensory dysfunction, Optic atrophy, Reduced visual acuity, Gait ataxia, Hepatosplenomegal...	ORPHA:466794
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness, Spastic paraplegia	OMIM:302700
Infantile Refsum Disease	Hepatomegaly, Constriction of peripheral visual field, Ataxia, Facial palsy, Rod-cone dystrophy, ...	ORPHA:772
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:611040
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Rigidity, Bradykinesia	ORPHA:306686
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Ataxia, Amblyopia, Visual loss, Optic atrophy, Abnormal pyramidal sign, Cereb...	OMIM:617951
Multiple System Atrophy	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br...	ORPHA:102
Retinitis Pigmentosa 70	Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma...	OMIM:615922
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Posteriorly rotated ears, Failure to thrive in infancy, Cachexia, Cerebral atrophy, Low-set ears,...	OMIM:616801
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop...	ORPHA:791
Cohen Syndrome	Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational a...	OMIM:216550
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl...	ORPHA:466722
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Blindness, Bilateral...	OMIM:268800
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri...	OMIM:619007
Abetalipoproteinemia	Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, Steppage gait, H...	ORPHA:14
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi...	OMIM:180100
Progressive Supranuclear Palsy	Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Gliosis, Falls, Dyspha...	ORPHA:683
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,...	OMIM:617282
Mulibrey Nanism	Cachexia	ORPHA:2576
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante...	OMIM:604484
X-Linked Cerebral Adrenoleukodystrophy	Decreased circulating cortisol level, Hoffmann sign, Dysmetria, Male hypogonadism, Hyperactivity,...	ORPHA:139396
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness, Small for gestational age, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, I...	ORPHA:79243
Cone-Rod Dystrophy 12	Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui...	OMIM:612657
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Ataxia, Truncal titubation, Visual loss, Gastrointestina...	ORPHA:88628
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Axonal degeneration, High palate	OMIM:620011
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Retinitis Pigmentosa 68	Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615725
Hypermanganesemia With Dystonia 1	Hepatomegaly, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppag...	OMIM:613280
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Hyperactivity, Blindness, Ataxia, Spastic tetraparesis, Impulsivity, Cerebell...	ORPHA:35069
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Patent ductus arteriosus, Nyctalopia, Absent fovea...	OMIM:615147
Mcdonough Syndrome	Low-set, posteriorly rotated ears, Cachexia, Cryptorchidism, Protruding ear, Macrotia	ORPHA:2471
Sarcosinemia	Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Tetraparesis, Congenital blindness	ORPHA:3129
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma...	OMIM:312600
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br...	ORPHA:98933
Primary Progressive Freezing Gait	Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Sh...	ORPHA:75567
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho...	OMIM:613660
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Loss of ambulation, Decreased amplitud...	ORPHA:2388
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Hepatomegaly, Blindness, Ataxia, Spastic paraplegia, Optic atrophy, Tetrapleg...	ORPHA:254913
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret...	ORPHA:414
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Retinitis Pigmentosa 78	Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac...	OMIM:617433
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Optic atrophy, Cerebral cortical atrophy, Hearing impairment	ORPHA:702
Adrenoleukodystrophy	Blindness, Incoordination, Paraparesis, Visual loss, Spastic paraplegia, Slurred speech, Primary ...	OMIM:300100
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Retinitis Pigmentosa 54	Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i...	OMIM:613428
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Abnormal antihelix morphology, Large earlobe, Low-set ears	ORPHA:1438
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph...	ORPHA:2585
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:617871
Wolman Disease	Bone-marrow foam cells, Cachexia, Splenomegaly, Esophageal varix, Steatorrhea, Anemia	ORPHA:75233
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Ataxia, Acanthocytosis, Abnormal erythrocyte morphology, Nyctalopia...	ORPHA:96180
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Retinitis Pigmentosa 7	Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a...	OMIM:608133
Retinitis Pigmentosa 20	Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of...	OMIM:613794
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Gastrointestinal dysmotility, Axonal degeneration, Neurodegeneration, Abnormal ...	ORPHA:478029
Retinitis Pigmentosa 38	Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a...	OMIM:613862
Retinitis Pigmentosa 47	Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:613758
Newfoundland Rod-Cone Dystrophy	Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect	OMIM:607476
Choroideremia	Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua...	ORPHA:180
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Retinitis Pigmentosa 71	Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c...	OMIM:616394
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor gait, Cerebra...	OMIM:617013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Hypergonadotropic hypogonadism, Facial palsy, Parkinsonism, Impaired distal propr...	OMIM:157640
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:617460
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Sensorineural hearing impairment, Cachexia	ORPHA:1933
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Optic nerve dysplasia, C...	OMIM:214110
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph...	OMIM:616079
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Mediastinal lymphadenopathy, Ileus, Lymp...	ORPHA:83469
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Opto-chiasmatic atrophy, Impaired proprioception, Dysmetria, Loss of ambulation, I...	OMIM:615491
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Blindness, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Seizure...	OMIM:259700
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi...	OMIM:168605
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ...	OMIM:168600
Optic Atrophy 1	Ataxia, Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centroc...	OMIM:165500
Optic Pathway Glioma	Papilledema, Blindness, Precocious puberty, Visual loss, Optic atrophy, Reduced visual acuity, Vi...	ORPHA:2086
Neuroferritinopathy	Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Blep...	ORPHA:157846
Cataract 11, Multiple Types	Chorea, Hypertonia, Blindness	OMIM:610623
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con...	OMIM:613194
Temporal Arteritis	Blindness, Retinal arteritis	OMIM:187360
Reticular Dysgenesis	Abnormality of neutrophils, Malabsorption, Weight loss, Leukopenia, Chronic otitis media, Failure...	ORPHA:33355
Retinitis Pigmentosa 18	Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ...	OMIM:601414
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N...	OMIM:300029
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten...	OMIM:614180
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Huntington Disease-Like 2	Caudate atrophy, Cerebral cortical atrophy, Weight loss	ORPHA:98934
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Weight los...	ORPHA:2198
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho...	OMIM:610356
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner...	ORPHA:206436
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Spastic tetraparesis, Babinski sign, Cholestasis, Cleft palate, Bradykinesia, Seizu...	OMIM:614924
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure, Shuffling gait,...	OMIM:311510
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:618144
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Rigidity, Dysesthesia, Dysmetria, Gait ataxia, Bradykinesia, Gait disturban...	ORPHA:93256
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:616502
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Vis...	ORPHA:5
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, N...	ORPHA:96
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Nyctalopia, Obesity, Reduced visual acuity, High myopia,...	OMIM:613464
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Sensorineural hearing impairment, Steatorrhea	ORPHA:3217
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Chromosome Xq21 Deletion Syndrome	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at...	OMIM:303110
Idiopathic Achalasia	Weight loss, Gastroesophageal reflux, Dysphagia	ORPHA:930
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath...	OMIM:615780
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness, Clonus, Tetraplegia, Seizure, Gastroesophageal reflux, Spasticity, Cerebral cortical a...	ORPHA:3137
Usher Syndrome Type 1	Ataxia, Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, High hypermet...	ORPHA:231169
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Diplopia, Dysphagia, Granulovacuolar de...	OMIM:601104
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Blindness, Cranial nerve compression, Optic atrophy, ...	OMIM:259710
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero...	OMIM:175500
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio...	OMIM:600852
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy...	ORPHA:388
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Weight loss, Adrenocorticotropi...	ORPHA:100083
Macular Dystrophy, Retinal, 4	Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a...	OMIM:619977
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy...	OMIM:180104
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Blindness, Constriction of peripheral visual field, Bilateral tonic-clonic seizu...	OMIM:300578
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Canavan Disease	Blindness, Epileptic spasm, Bilateral tonic-clonic seizure, Optic atrophy, Abnormal pyramidal sig...	OMIM:271900
Bardet-Biedl Syndrome 4	Cryptorchidism, Nyctalopia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Retinitis Pigmentosa 63	Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision	OMIM:614494
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Anal atresia, Hypohidrosis	ORPHA:884
Leber Congenital Amaurosis 16	Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im...	OMIM:614186
Pulmonary Blastoma	Weight loss	ORPHA:64741
Cone Rod Dystrophy	Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect	ORPHA:1872
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Impaired vibration s...	ORPHA:98808
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Diplopia, Granulovacuolar dege...	OMIM:609454
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Usher Syndrome, Type Iiia	Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect	OMIM:276902
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Seizure, Blindness, Anemia	OMIM:614514
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Blindness, Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Abnormal pyramidal sign, Anemia...	OMIM:612199
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Optic atrophy, Abnormal pyramidal sig...	OMIM:616680
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic at...	OMIM:125250
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness, Optic atrophy	ORPHA:2787
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu...	OMIM:600977
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Axo...	OMIM:208920
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Blindness, Ataxia, Pigmentary retinopathy, Myoclonus, Type I diabetes mellitus, Fai...	OMIM:560000
Exudative Vitreoretinopathy 1	Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi...	OMIM:133780
Retinal Dystrophy And Obesity	Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Reduc...	OMIM:616188
Intestinal Dysmotility Syndrome	Weight loss, Decreased intestinal transit time, High palate, Low-set ears, Failure to thrive	OMIM:620045
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggressive behavior, Tr...	OMIM:612953
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu...	OMIM:267760
Achromatopsia 7	Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a...	OMIM:616517
Primary Angiitis Of The Central Nervous System	Abnormal visual field test, Ataxia, Parkinsonism, Paralysis, Paraparesis, Diplopia, Reduced visua...	ORPHA:140989
Pontocerebellar Hypoplasia Type 2	Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizure, Simple febr...	ORPHA:2524
Majeed Syndrome	Cachexia, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytosis, Hypochromic m...	ORPHA:77297
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Blindness, Ataxia, Central scotoma, Optic atrophy, ...	ORPHA:543470
Caribbean Parkinsonism	Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ...	ORPHA:97355
Osteoporosis-Pseudoglioma Syndrome	Waddling gait, Retinal detachment, Isosexual precocious puberty, Moderately reduced visual acuity...	ORPHA:2788
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac...	OMIM:618220
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618826
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph...	OMIM:270200
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Rigidity, Diplopia, Bradykinesia, Agitation, Abnormal autonom...	ORPHA:2828
Cog8-Cdg	Cerebellar atrophy, Ataxia, Seizure, Prolonged prothrombin time, Protein-losing enteropathy, Myoc...	ORPHA:95428
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m...	ORPHA:436274
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism,...	OMIM:612541
Retinitis Pigmentosa 40	Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b...	OMIM:613801
Retinitis Pigmentosa 85	Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity	OMIM:618345
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Cleft palate, Weight loss	ORPHA:141152
Exudative Vitreoretinopathy 4	Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm...	OMIM:601813
Rett Syndrome	EEG abnormality, Gastroesophageal reflux, Cerebral cortical atrophy, Cachexia	OMIM:312750
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N...	OMIM:616108
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f...	OMIM:300476
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:606068
Cinca Syndrome	Hepatomegaly, Blindness, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar opti...	ORPHA:1451
Mucopolysaccharidosis Type 3	Adenoiditis, Abnormal pyramidal sign, Hypertonia, Loss of ambulation, Retinal degeneration, Hepat...	ORPHA:581
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Reduced ...	OMIM:611302
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Absent brainstem auditory responses, Caudate atrophy, Sensorineural...	ORPHA:52368
Cavitary Optic Disc Anomalies	Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect	OMIM:611543
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Broad-based gait, Ataxia, Clonus, Babinski sign, Abnormal pyramidal sign, Red...	OMIM:616479
Retinitis Pigmentosa 92	Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,...	OMIM:619614
White-Sutton Syndrome	Subcortical cerebral atrophy, Gastroesophageal reflux, High palate, Compulsive behaviors, Abnorma...	ORPHA:468678
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Ataxia,...	ORPHA:713
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:613582
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Acitretin/Etretinate Embryopathy	Abnormal retinal morphology, Hypoplasia of the thymus, High palate, Aplasia/Hypoplasia of the opt...	ORPHA:40366
Usher Syndrome Type 3	Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231183
Methanol Poisoning	Blindness, Seizure, Addictive alcohol use, Abnormal optic nerve morphology, Type II diabetes mell...	ORPHA:31825
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Blindness, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyrami...	OMIM:272750
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Splenomegaly, Cleft palate, Leukopenia, Seizure, Neurodegeneration, Lymphopenia	OMIM:620210
Refsum Disease	Abnormality of retinal pigmentation, Ataxia, Splenomegaly, Hemiplegia/hemiparesis, Nyctalopia, Ab...	ORPHA:773
Isaacs Syndrome	Hyperhidrosis, EEG abnormality, Weight loss	ORPHA:84142
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Episodic Ataxia Type 6	Cerebellar atrophy, Ataxia, Diplopia, Slurred speech, Reduced visual acuity, Photophobia, Seizure...	ORPHA:209967
Severe Early-Childhood-Onset Retinal Dystrophy	Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ...	ORPHA:364055
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati...	OMIM:603041
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt...	OMIM:600059
Bothnia Retinal Dystrophy	Macular degeneration, Nyctalopia, Retinal dystrophy	OMIM:607475
Non-Functioning Pituitary Adenoma	Bitemporal hemianopia, Decreased response to growth hormone stimulation test, Reduced circulating...	ORPHA:91349
Mepan Syndrome	Cerebellar atrophy, Ataxia, Chorea, Optic atrophy, Reduced visual acuity, Cerebral atrophy, Gait ...	ORPHA:508093
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ...	OMIM:601455
Immunodeficiency 9	Failure to thrive, Hypoplasia of the thymus, Difficulty walking	OMIM:612782
Retinitis Pigmentosa	Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ...	OMIM:268000
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Increased mean platelet volu...	ORPHA:84064
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Chorea, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi...	OMIM:600105
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy of the spinal cord, Progressive spast...	ORPHA:329308
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Congenita...	ORPHA:436182
Severe X-Linked Intellectual Disability, Gustavson Type	Blindness, Small for gestational age, Optic atrophy, Seizure, Hypertonia, Myoclonus, Brain atroph...	ORPHA:3078
Fleck Retina, Familial Benign	Nyctalopia, Retinal flecks, Visual impairment	OMIM:228980
Joubert Syndrome With Oculorenal Defect	Blindness, Ataxia, Retinal dystrophy, Aganglionic megacolon, Seizure, Chorioretinal coloboma, Abn...	ORPHA:2318
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea...	ORPHA:2070
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Exudative Vitreoretinopathy 5	Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re...	OMIM:613310
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Optic atrophy, Reduced visual acuity, Dysmetria, Sei...	OMIM:619708
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy	OMIM:616811
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Fundus Albipunctatus	Nyctalopia, Retinal flecks, Fundus albipunctatus	OMIM:136880
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Tuberculosis	Weight loss	ORPHA:3389
Chediak-Higashi Syndrome	Tremor, Photophobia, Leukopenia, Giant neutrophil granules, Neutropenia, Impaired neutrophil bact...	OMIM:214500
Joubert Syndrome 6	Blindness, Ataxia, Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma, Oculomotor ...	OMIM:610688
Macular Dystrophy With Central Cone Involvement	Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi...	OMIM:616170
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, High, narrow palate...	OMIM:209900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Nyctalopia, Obesity, Cholestasis, Hepatic fibrosis, Oculomotor apraxi...	OMIM:615630
Usher Syndrome, Type Iid	Nyctalopia, Rod-cone dystrophy	OMIM:611383
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Myopia, Lymphopenia, Chorioretinal coloboma, Malabsorption	ORPHA:1116
Metachromatic Leukodystrophy	Incoordination, Ataxia, Abnormal stomach morphology, Decreased nerve conduction velocity, Tremor,...	ORPHA:512
Abetalipoproteinemia	Ataxia, Acanthocytosis, Fat malabsorption, Retinopathy, Retinal degeneration	OMIM:200100
Retinitis Pigmentosa 6	Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin...	OMIM:312612
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Blepharospasm, Bradykinesia, Parkinsonism with favorab...	OMIM:606324
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology	OMIM:613502
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo...	ORPHA:209943
X-Linked Creatine Transporter Deficiency	Ileus, Aganglionic megacolon, Cachexia	ORPHA:52503
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Optic disc pallor, Retinal thinning, Ataxia, Reduced visual acuity, Photophobia	OMIM:618970
Vitreoretinochoroidopathy	Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig...	OMIM:193220
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy	OMIM:179840
Mohr-Tranebjaerg Syndrome	Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Tremor, Reduced visu...	OMIM:304700
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Low-set, posteriorly rotated ears, EEG abnormality, Severe failure to thrive, Cachexia	ORPHA:371364
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi...	OMIM:610127
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, Hy...	ORPHA:1390
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Immunoneurologic Disorder, X-Linked	Nyctalopia, Spastic paraplegia, Small for gestational age	OMIM:300076
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesit...	ORPHA:813
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im...	OMIM:258870
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia, Clonus, Optic atrophy, Abnormal py...	ORPHA:370959
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Aredyld Syndrome	Low-set, posteriorly rotated ears, Splenomegaly, Abnormal tragus morphology, Cachexia	ORPHA:1133
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Optic atrophy, S...	OMIM:230600
Retinal Cone Dystrophy 3A	Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Behçet Disease	Gastrointestinal hemorrhage, Blindness, Ataxia, Anorexia, Malabsorption, Orchitis, Splenomegaly, ...	ORPHA:117
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Amblyopia, Hypermetropia, Anteriorly place...	OMIM:618624
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Myopia, Blindness, Aganglionic megacolon, Abnormal hemoglobin, Cryptorchidism, Spastic paraplegia...	ORPHA:847
Juvenile Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Cachexia, Dysphagia	ORPHA:300605
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Cachexia, High, narrow palate, Rectal prolapse, A...	ORPHA:79076
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Hyperactivi...	ORPHA:760
Refractory Celiac Disease	Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase...	ORPHA:398063
Night Blindness, Congenital Stationary, Type 1F	Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ...	OMIM:615058
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Nyctalopia	OMIM:618632
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi...	ORPHA:52427
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Microtia, Congenital pyloric atresia	OMIM:612138
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
19Q13.11 Microdeletion Syndrome	Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive, Hearing impairment	ORPHA:217346
Asparagine Synthetase Deficiency	Caudate atrophy, Exaggerated startle response, Blindness, Optic nerve hypoplasia, Clonus, Cerebra...	OMIM:615574
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br...	ORPHA:306674
Exudative Vitreoretinopathy 3	Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ...	OMIM:605750
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v...	OMIM:605549
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Blindness, Facial palsy, Optic atrophy, Visual impairment, Anemia	ORPHA:53
Acute Zonal Occult Outer Retinopathy	Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con...	ORPHA:284454
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Abnormal earlobe morphology, Obesity, Hyperhidrosis, EEG abnormality, High palate, Decr...	ORPHA:85293
Niemann-Pick Disease, Type C1	Hepatomegaly, Ataxia, Bone-marrow foam cells, Splenomegaly, Dysphagia, Gait ataxia, Seizure, Sea-...	OMIM:257220
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Blindness, Ataxia, Abnormal erythrocyte enzyme level, ...	ORPHA:1187
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ...	ORPHA:157798
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction...	OMIM:615973
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Axonal degeneration, Intestinal edema	OMIM:106100
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hyperhidrosis, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Chorea, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia	OMIM:301080
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Gait ataxia, A...	ORPHA:1435
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with...	OMIM:607060
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atr...	ORPHA:436252
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Optic Atrophy-Intellectual Disability Syndrome	Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Rep...	ORPHA:401777
Sturge-Weber Syndrome	Retinal detachment, Blindness, Abnormal retinal vascular morphology, Optic atrophy, Abnormality o...	ORPHA:3205
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate...	OMIM:618173
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:180105
Friedreich Ataxia	Decreased motor nerve conduction velocity, Diabetes mellitus, Inability to walk, Chorea, Babinski...	ORPHA:95
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Au...	ORPHA:37042
Adrenomyeloneuropathy	Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ...	ORPHA:139399
Full Nf2-Related Schwannomatosis	Blindness, Somatic sensory dysfunction, Remnants of the hyaloid vascular system, Facial palsy, Bi...	ORPHA:637
Tay-Sachs Disease	Exaggerated startle response, Blindness, Seizure, Hypertonia, Cherry red spot of the macula	OMIM:272800
Spinocerebellar Ataxia, Autosomal Recessive 33	Broad-based gait, Head titubation, Reduced visual acuity, Gait ataxia, Focal impaired awareness s...	OMIM:620208
Pfapa Syndrome	Splenomegaly, Weight loss, Lymphadenopathy, Malabsorption	ORPHA:42642
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina...	OMIM:193235
Meningioma	Bitemporal hemianopia, Decreased circulating cortisol level, Reduced circulating prolactin concen...	ORPHA:2495
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field...	OMIM:617304
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Exaggerated startle response, Blindness, Hepatosplenomegaly, Macrogloss...	ORPHA:79255
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Gastroesophageal reflux, High palate, Neut...	ORPHA:443811
Wiskott-Aldrich Syndrome	Hemolytic anemia, Prolonged bleeding time, Abnormal eosinophil morphology, Microcytic anemia, Hem...	ORPHA:906
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:613983
Sneddon Syndrome	Facial palsy, Tremor, Seizure, Impaired distal tactile sensation, Hemiplegia, Lymphopenia	OMIM:182410
Chylomicron Retention Disease	Acanthocytosis, Increased hepatocellular lipid droplets, Impaired proprioception, Steatorrhea, Re...	ORPHA:71
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Malabsorption	OMIM:152800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Constriction of peripheral visual field, Failure to thrive in inf...	OMIM:619418
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal...	ORPHA:2526
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing...	OMIM:619260
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Ani...	OMIM:616959
Whipple Disease	Gastrointestinal hemorrhage, Cachexia, Malabsorption, Mediastinal lymphadenopathy, Splenomegaly, ...	ORPHA:3452
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L...	OMIM:304790
Madras Motor Neuron Disease	Facial palsy, Babinski sign, Optic atrophy, Reduced visual acuity, Limb fasciculations, Dysphagia...	ORPHA:137867
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Mirage Syndrome	Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Esophageal stricture, Thrombo...	OMIM:617053
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, L...	ORPHA:277
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:615233
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:616469
Fatal Familial Insomnia	Hyperhidrosis, Weight loss, Abnormal autonomic nervous system physiology, Dysphagia, Neuronal los...	OMIM:600072
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:612095
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Blindness, Patent ductus arteriosus, Optic atrophy, Cerebral atrophy, Cleft palate, High myopia, ...	OMIM:220500
Leber Congenital Amaurosis 15	Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac...	OMIM:613843
Webb-Dattani Syndrome	Blindness, Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test,...	OMIM:615926
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Cro...	OMIM:266600
X-Linked Immunoneurologic Disorder	Hemiplegia/hemiparesis, Nyctalopia, Hypertonia	ORPHA:2571
Bardet-Biedl Syndrome 3	Nyctalopia, Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment	OMIM:600151
Pseudomyxoma Peritonei	Intestinal obstruction, Weight loss, Lymphadenopathy, Inflammation of the large intestine	ORPHA:26790
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma...	OMIM:618195
Cancer-Associated Retinopathy	Vitritis, Photophobia, Pancreatic adenocarcinoma, Retinal atrophy, Thymoma, Paracentral scotoma, ...	ORPHA:71505
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia	ORPHA:42
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op...	ORPHA:1215
Cowden Syndrome 1	Colonic diverticula, Myopia, Hyperthyroidism, Thyroiditis, Angioid streaks of the fundus, Furrowe...	OMIM:158350
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Seizure, Blindness, Infantile spasms	OMIM:618731
Peroxisome Biogenesis Disorder 9B	Constriction of peripheral visual field, Ataxia, Nyctalopia, Reduced visual acuity, Rod-cone dyst...	OMIM:614879
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch...	OMIM:601777
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Blindness, Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocere...	ORPHA:95433
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia	OMIM:613217
Alstrom Syndrome	Cone/cone-rod dystrophy, Hepatomegaly, Blindness, Chronic active hepatitis, Hypergonadotropic hyp...	OMIM:203800
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Pulsatile tinnitus, Episodic hyperhidrosis, Paroxysmal vertigo, C...	ORPHA:94080
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac...	OMIM:611131
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Sensorineural hearing impairment, Axonal degeneration, Optic atrophy, C...	OMIM:278800
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Constriction of peripheral visual field, Incoordination, Patchy atrophy of the retinal pigment ep...	ORPHA:436245
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-pos...	OMIM:619510
Usher Syndrome	Abnormality of retinal pigmentation, Myopia, Blindness, Ataxia, Nyctalopia, Visual field defect, ...	ORPHA:886
Treacher-Collins Syndrome	Cryptorchidism, Patent ductus arteriosus, Tracheoesophageal fistula, Cleft palate, Blepharospasm,...	ORPHA:861
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Photophobia, Neutropenia, Abnormal natural killer cell morphology...	ORPHA:167
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:613581
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia	OMIM:615181
22Q11.2 Deletion Syndrome	Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Hypothyroidism, Hypoparathy...	ORPHA:567
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613617
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Hypoplasia of the ear ca...	ORPHA:66661
Friedreich Ataxia	Impaired vibratory sensation, Diabetes mellitus, Ataxia, Babinski sign, Optic atrophy, Decreased ...	OMIM:229300
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Idiopathic Panuveitis	Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R...	ORPHA:280921
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus...	OMIM:188400
Xfe Progeroid Syndrome	Failure to thrive, Optic atrophy, Cachexia, Hearing impairment	OMIM:610965
Whim Syndrome	Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, ...	ORPHA:51636
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Hepatomegaly, Hyperactivity, Restlessness, Aggressive behavior, Splenomegaly,...	OMIM:252940
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Lethal Congenital Contracture Syndrome 10	Torticollis, Narrow palate, Macroglossia, Hypoplasia of the thymus, High palate	OMIM:617022
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Spastic Paraplegia 15, Autosomal Recessive	Lower limb spasticity, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Reduced visual acuity, ...	OMIM:270700
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu...	OMIM:146500
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund...	OMIM:613835
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis...	ORPHA:30391
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Abscess, Perianal abscess, Lymphadenitis, Spl...	OMIM:618935
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Transcobalamin Deficiency	Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia	ORPHA:859
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Hepatomegaly, Optic disc pallor, Blindness, Ataxia, Bilateral tonic-clonic se...	OMIM:252010
Joubert Syndrome 35	Ataxia, Nyctalopia, Progressive visual loss, Oculomotor apraxia, Rod-cone dystrophy	OMIM:618161
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Hypothyroidism, Atyp...	ORPHA:83471
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:602772
Prolactinoma	Bitemporal hemianopia, Male hypogonadism, Hypogonadotropic hypogonadism, Seizure, Hemianopia, Del...	ORPHA:2965
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Cryptorchidis...	OMIM:193700
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Failure to thrive, Protein-losing enteropathy	OMIM:615863
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc...	ORPHA:440727
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe...	OMIM:613756
Leber Congenital Amaurosis 3	Visual loss, Nyctalopia, Constriction of peripheral visual field	OMIM:604232
Erythrokeratodermia Variabilis	Weight loss, Abnormal testis morphology, Hearing impairment, Protruding ear	ORPHA:317
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Cholestasis, Protein-lo...	OMIM:608104
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Vertigo, Sensorineural hearing impairment,...	ORPHA:3226
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness, Ataxia	OMIM:271250
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie...	OMIM:600132
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Abnormal visual field test, Tremor, Elevated circulating thyroid-stimulati...	ORPHA:91347
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Nyctalopia, Lymphaden...	OMIM:260920
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Dpagt1-Cdg	Tremor, Hypertonia, Diffuse optic disc pallor, Hepatomegaly, Ataxia, Focal motor seizure, Seizure...	ORPHA:86309
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, High palate, Abnormal auditory evoked potentials	OMIM:617523
Usher Syndrome Type 2	Myopia, Ataxia, Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, Cereb...	ORPHA:231178
Benign Recurrent Intrahepatic Cholestasis	Weight loss, Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Hearing impairment	ORPHA:65682
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Blindness, Abnormality of macular pigmentation	ORPHA:1573
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Impaired pain sensation	ORPHA:2582
Cone-Rod Dystrophy 10	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M...	OMIM:610283
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Focal hemiclonic...	ORPHA:1830
Alg1-Cdg	Abnormality of the gastrointestinal tract, Cerebellar atrophy, Cerebral atrophy, Seizure, Protein...	ORPHA:79327
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous...	ORPHA:109
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Blindness, Cerebral palsy, Neonatal alloimmune thrombocytopenia, Melena	ORPHA:853
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec...	ORPHA:909
Cryptococcosis	Blindness, Lymphoid leukemia, Abnormal retinal morphology, Mediastinal lymphadenopathy, Peritonit...	ORPHA:1546
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim...	OMIM:614162
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Cerebral cortical atrophy, Weight loss	ORPHA:1164
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Seizure, Meckel diverticulum, Chorioretinal coloboma, Dysphagia	ORPHA:163961
Arima Syndrome	Hepatomegaly, Blindness, Retinal dystrophy, Ataxia, Esophageal varix, Optic atrophy, Hepatic fibr...	OMIM:243910
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Cirrhosis, Steatorrh...	OMIM:602579
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Failure to thrive, Bilateral cryptorchidism, Pyloric stenosis, Hypertonia, Neutropen...	OMIM:616395
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Somatic sensory dysfunction, Ataxia, Eosinophilia, Abscess, ...	OMIM:615816
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Blindness, Ocular albinism, Hematochezia, Photophobia, Inflammation of t...	OMIM:203300
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Cachexia, Hearing impairment	ORPHA:220295
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Constricti...	OMIM:240300
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Anemia	ORPHA:100024
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l...	OMIM:613810
Blindness-Scoliosis-Arachnodactyly Syndrome	Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation	ORPHA:171844
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Acholic sto...	OMIM:607765
Stickler Syndrome, Type I	Retinal detachment, Myopia, Blindness, Submucous cleft hard palate, Cleft palate, Vitreoretinopat...	OMIM:108300
Refsum Disease, Classic	Somatic sensory dysfunction, Ataxia, Nyctalopia, Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Nijmegen Breakage Syndrome	Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Hearing...	ORPHA:647
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Reduced visual acuity, Gait at...	ORPHA:309256
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Reduced visual acuity,...	ORPHA:309271
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Tremor, Reduced visual acuity, Pigmentary retinopathy, Seizure, Lethargy, A...	OMIM:277400
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia	ORPHA:779
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Seizure, ...	OMIM:617780
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, E...	ORPHA:2072
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Restlessness, Blindness, Ataxia, Facial palsy, Visual loss, Diplopia, Hemipa...	ORPHA:68
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Mccune-Albright Syndrome	Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Blindness, Elevated circulating growt...	OMIM:174800
X-Linked Agammaglobulinemia	Malabsorption, Sensorineural hearing impairment, Weight loss, Anemia, Glossoptosis, Neutropenia, ...	ORPHA:47
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Cap Polyposis	Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss	ORPHA:160148
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Cryptorchidism, Hypohidrosis, Acute leukemia, Testicular seminoma	ORPHA:281090
Momo Syndrome	Blindness, Large for gestational age, Abnormality of the thyroid gland, Obesity, Seizure, High pa...	ORPHA:2563
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked...	ORPHA:99027
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Blindness, Extrapyramidal muscular rigidity, Ataxia, Postural...	ORPHA:67036
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Norrie Disease	Retinal detachment, Blindness, Aggressive behavior, Optic atrophy, Seizure, Retinal dysplasia, Re...	OMIM:310600
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Weight loss, Hyperhidrosis, Pheochromocytoma, Dysph...	ORPHA:1332
Trisomy 18	Low-set, posteriorly rotated ears, Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, C...	ORPHA:3380
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Pure red cell aplasia, Autoimmune thrombo...	OMIM:613179
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Spastic tetraplegia, T ...	OMIM:617237
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Agenesis of corpus callosum, Abnormal auditory evoked potentials	OMIM:109120
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat...	ORPHA:79319
Pleural Mesothelioma	Weight loss, Lymphadenopathy, Dysphagia	ORPHA:50251
Isolated Complex I Deficiency	Hepatomegaly, Optic disc pallor, Diabetes mellitus, Ataxia, Blindness, Optic neuropathy, Lethargy...	ORPHA:2609
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux,...	OMIM:613177
Fraser Syndrome 2	Rectal atresia, Hypoplasia of the thymus, Intestinal malrotation, Anal atresia	OMIM:617666
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ...	ORPHA:90362
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, Esophageal varix, Hepato...	ORPHA:275761
Chronic Hiccup	Weight loss	ORPHA:396
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Gastric varix, Hepatocellular carcinoma	OMIM:613490
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea	OMIM:613291
Cystinosis, Nephropathic	Hepatomegaly, Blindness, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphag...	OMIM:219800
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Follicular Lymphoma	Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Icf Syndrome	Abnormality of chromosome stability, Abnormality of neutrophils, Malabsorption, Protruding tongue...	ORPHA:2268
Cockayne Syndrome	High-frequency sensorineural hearing impairment, Optic disc pallor, Cerebellar atrophy, Periphera...	ORPHA:191
Mucopolysaccharidosis Type 2	Abnormal repetitive mannerisms, Oppositional defiant disorder, Retinal degeneration, Hepatomegaly...	ORPHA:580
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Abnormal...	ORPHA:79303
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Prolonged bleeding time, Splenomegaly, Impaired ADP...	OMIM:608233
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Malabsorption, Hypersplenism, Thrombocytopenia, Leukoc...	ORPHA:98850
Rift Valley Fever	Retinitis, Anorexia, Paralysis, Hematemesis, Paraparesis, Jaundice, Scotoma, Hepatitis, Retinal h...	ORPHA:319251
Kanzaki Disease	Peripheral axonal neuropathy, Vertigo, Axonal degeneration, Sensorineural hearing impairment, Cer...	OMIM:609242
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Hydranencephaly	Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Spastic diplegia, Opisthotonus, Abnorma...	ORPHA:2177
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Cranioectodermal Dysplasia 4	Nyctalopia, Hypermetropia, Bone marrow hypocellularity, Rod-cone dystrophy, Visual impairment	OMIM:614378
Hermansky-Pudlak Syndrome 6	Prolonged bleeding time, Amblyopia, Impaired ADP-induced platelet aggregation, Ocular albinism, A...	OMIM:614075
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy	OMIM:616881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Cryptorchidism, O...	OMIM:236670
Tarp Syndrome	Myopia, Failure to thrive, Extramedullary hematopoiesis, Broad-based gait, Cryptorchidism, Optic ...	ORPHA:2886
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomegaly, Leukocytosis, Esophageal v...	OMIM:615688
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond...	ORPHA:101085
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Ear pain, Odynophagia, Cranial nerve compression, Schwannoma, Weight l...	ORPHA:221098
Achromatopsia 2	Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit...	OMIM:216900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent i...	ORPHA:169160
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,...	OMIM:619649
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Achalasia, Blindness, Dysphagia	ORPHA:79107
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia...	ORPHA:2688
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura...	OMIM:600802
Myopathy, Tubular Aggregate, 1	Nyctalopia, Frequent falls	OMIM:160565
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Vascular Hyalinosis	Hematochezia, Chorioretinal scar, Protein-losing enteropathy, Malabsorption	OMIM:277175
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Reduced visual acuity, Clumsin...	ORPHA:309263
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Episodic hyper...	ORPHA:276621
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Constriction of peripheral visual field, Ataxia, Tremor, Babinski sign, Xerost...	OMIM:618527
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene...	OMIM:613767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Macrocephaly/Autism Syndrome	Speech apraxia, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis,...	OMIM:605309
Rhabdoid Tumor	Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Lymphadenopathy, Weight loss, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Myopia, Nyctalopia, High myopia, Rod-cone dystrophy, Hypothyroidism, Cerebral...	OMIM:617763
Camurati-Engelmann Disease	Facial palsy, Cachexia, Splenomegaly, Optic atrophy, Leukopenia, Optic nerve compression, Slender...	ORPHA:1328
Momo Syndrome	Blindness, High palate, Obesity, Retinal coloboma	OMIM:157980
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Retinitis Pigmentosa 75	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co...	OMIM:617023
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ...	OMIM:616468
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Igg4-Related Dacryoadenitis And Sialadenitis	Blindness, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Thyroiditis, Lymphaden...	ORPHA:79078
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Failure to thrive, Decreased proportion of naive T cells, Jaundice, Lymph node hypo...	ORPHA:276
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Classic Hodgkin Lymphoma	Splenomegaly, Hyperhidrosis, Weight loss, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia, Hypochromic ...	ORPHA:3240
Reni Syndrome	Ataxia, Cryptorchidism, Seizure, Adrenal insufficiency, Hypogonadism, Lymphopenia, Hypothyroidism	OMIM:617575
Vici Syndrome	Failure to thrive, Macular atrophy, Neutropenia, Ocular albinism, Cleft palate, Leukopenia, T lym...	OMIM:242840
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Splenomegaly, Esophageal vari...	ORPHA:131
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Protein-losing enteropathy, Weight loss	ORPHA:103910
Autoimmune Lymphoproliferative Syndrome	Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg...	ORPHA:3261
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion, Blindness	ORPHA:73267
Pancreatic Colipase Deficiency	Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi...	ORPHA:309108
Chylomicron Retention Disease	Impaired vibratory sensation, Failure to thrive, Accumulation of lipid droplets in small-bowel en...	OMIM:246700
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Progressive hearin...	ORPHA:514
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Leukocytosi...	OMIM:619321
Acquired Hypertrichosis Lanuginosa	Weight loss, Ovarian neoplasm, Macroglossia, Lymphadenopathy, Glossitis	ORPHA:2221
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lethar...	ORPHA:319218
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Myopia, Splenomegaly, Abnormality of the parathyroid glan...	ORPHA:2969
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Polydipsia, Abnormal central motor function, Neoplasm of the anterior p...	ORPHA:91351
Trisomy 10P	Absent gallbladder, Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked...	ORPHA:171929
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Blindness, Retinal dystrophy, Chorioretinal dysplasia, Ambly...	ORPHA:2556
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null cell adenoma...	ORPHA:97289
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Microtia, Congenital pyloric atresia	OMIM:619817
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Cryptorchidism, Splenomegaly, Macroglossia, Protein-losi...	OMIM:618440
Pituitary Carcinoma	Enlarged pituitary gland, Abnormal central motor function, Ataxia, Elevated circulating growth ho...	ORPHA:300385
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Hepatomegaly, Pancreatic fibrosis, Pancytopenia, Failure t...	OMIM:557000
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Failure to thrive, Cryptorchidism, Optic atrophy, Hypohidros...	ORPHA:90321
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi...	OMIM:210370
Cockayne Syndrome B	Anhidrosis, Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potent...	OMIM:133540
Schwartz-Jampel Syndrome	Low-set, posteriorly rotated ears, Cachexia, Cleft palate, High palate, Decreased body weight, Te...	ORPHA:800
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Abnormality of the spleen, Generalized lymphadenopathy...	ORPHA:33276
Graves Disease, Susceptibility To, 1	Hyperhidrosis, Weight loss, Goiter	OMIM:275000
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Sensorineural hearing impairment, Optic atrophy, Gast...	ORPHA:3463
Seckel Syndrome	Abnormal earlobe morphology, Absent earlobe, Cachexia	ORPHA:808
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Lymphadenopathy, Leukopenia, Seizure, Microangiopathic...	ORPHA:93552
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Weight loss, Failu...	OMIM:619377
Dysosteosclerosis	Blindness, Optic atrophy, Seizure, High palate, Facial paralysis	OMIM:224300
Bardet-Biedl Syndrome 20	Papilledema, Constriction of peripheral visual field, Bilateral cryptorchidism, Nyctalopia, Obesi...	OMIM:619471
Aica-Ribosiduria	Congenital blindness, Seizure	ORPHA:250977
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ...	ORPHA:507
Legionnaires Disease	Ataxia, Anorexia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity...	ORPHA:549
Takayasu Arteritis	Hyperhidrosis, Gastrointestinal infarctions, Anemia, Weight loss	ORPHA:3287
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Bilateral tonic-clonic seizure with focal onset, Tremo...	OMIM:614947
Eec Syndrome	Decreased response to growth hormone stimulation test, Xerostomia, Cleft palate, Photophobia, Hyp...	ORPHA:1896
Aica-Ribosuria Due To Atic Deficiency	Congenital blindness, Seizure, Optic atrophy	OMIM:608688
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged prothrombin...	OMIM:214950
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Sensorineural hearing impairment, Weig...	ORPHA:1018
Norrie Disease	Retinal detachment, Blindness, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of ...	ORPHA:649
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-in...	OMIM:614074
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi...	OMIM:615710
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Diabetes mellitus, Ataxia, Cryptorchidism, Dysmetria, Anemia, Truncal obesity, ...	OMIM:616541
Cockayne Syndrome A	Cerebellar atrophy, Anhidrosis, Abnormal pinna morphology, Abnormal peripheral myelination, Abnor...	OMIM:216400
Zygomycosis	Unusual gastrointestinal infection, Colitis, Neutropenia, Brain abscess, Mediastinal lymphadenopa...	ORPHA:73263
Khan-Khan-Katsanis Syndrome	Failure to thrive, Patent ductus arteriosus after premature birth, Dysphagia, Pigmentary retinopa...	OMIM:618460
Giant Cell Arteritis	Mediastinal lymphadenopathy, Vertigo, Optic atrophy, Weight loss, Hyperhidrosis, Gastrointestinal...	ORPHA:397
Bone Dysplasia, Lethal Holmgren Type	Hearing abnormality, Failure to thrive, Anemia, Weight loss	ORPHA:1842
Joubert Syndrome 5	Ataxia, Aggressive behavior, Reduced visual acuity, Cleft palate, Retinal coloboma, Oculomotor ap...	OMIM:610188
Thymic Carcinoma	Hyperhidrosis, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Cryptorchidism, Nyctalopia, Visual field defect, Rod-cone dy...	ORPHA:166035
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Seizure, Blindness	OMIM:603387
Microsporidiosis	Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Lymphadenitis, Weight ...	ORPHA:2552
Hypercholanemia, Familial 1	Fat malabsorption, Failure to thrive, Steatorrhea	OMIM:607748
Lujo Hemorrhagic Fever	Resting tremor, Bilateral tonic-clonic seizure, Leukocytosis, Odynophagia, Fulminant hepatitis, P...	ORPHA:319213
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Episodic hyper...	ORPHA:29072
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Malignant Peritoneal Mesothelioma	Ileus, Weight loss	ORPHA:168811
Tarp Syndrome	Failure to thrive, Optic atrophy, Cleft palate, Tongue nodules, Glossoptosis, Athetosis, Seizure,...	OMIM:311900
Cerebrooculonasal Syndrome	Blindness, High palate	ORPHA:66625
Wolfram Syndrome 2	Sensorineural hearing impairment, Gastric ulcer, Optic atrophy, Optic neuropathy	OMIM:604928
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscul...	OMIM:127550
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Congenital Bile Acid Synthesis Defect Type 3	Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption	ORPHA:79302
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ...	ORPHA:913
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly...	OMIM:235255
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan...	ORPHA:144
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the end...	ORPHA:391487
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ...	ORPHA:440437
Acrodermatitis Enteropathica	Malabsorption, Weight loss, Furrowed tongue, Failure to thrive, Glossitis, Cerebral cortical atrophy	ORPHA:37
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Aga...	OMIM:250250
Wild Type Attr Amyloidosis	Gastrointestinal dysmotility, Weight loss, Abnormal autonomic nervous system physiology, Autonomi...	ORPHA:330001
Stickler Syndrome	Slender build, Cachexia, Sensorineural hearing impairment, Cleft palate, Macroglossia, Glossoptos...	ORPHA:828
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Cryptorchidism, Truncal ataxia, Increased serum testosterone level, Hy...	OMIM:264090
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, ...	OMIM:619767
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism, Rectal pro...	OMIM:235510
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Nycta...	ORPHA:217085
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str...	ORPHA:1572
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Blindness, Anisocytosis, Increased stool urobilinogen concentr...	ORPHA:79277
Mucoepithelial Dysplasia, Hereditary	Blindness, Eosinophilia, Furrowed tongue, Melena, Photophobia	OMIM:158310
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri...	ORPHA:210122
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Anal stenosis, Blindness	OMIM:601499
Lowry-Wood Syndrome	Pigmentary retinopathy, Nyctalopia, Small for gestational age, Peripheral visual field loss	OMIM:226960
Cherubism	Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, N...	OMIM:118400
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia	ORPHA:1969
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splenomegaly, Nycta...	ORPHA:217093
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma...	ORPHA:91495
Microgastria-Limb Reduction Defect Syndrome	Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the ...	ORPHA:2538
Enhanced S-Cone Syndrome	Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Microcephaly 20, Primary, Autosomal Recessive	Blindness, Optic nerve hypoplasia, Attention deficit hyperactivity disorder	OMIM:617914
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Pancreatic cysts, Rod-cone dystrophy, Reduced visual acuity, ...	OMIM:616307
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Eosinophilia, Malabsorption, Weight loss, Central nervous system degenera...	ORPHA:183
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P...	ORPHA:85450
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss	OMIM:605543
Leprosy	Blindness, Impaired temperature sensation, Dysesthesia, Abnormality of the spleen, Dissociated se...	ORPHA:548
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Esophageal varix, Leu...	ORPHA:64743
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Seizure, Anal atresia, Lymphopenia, Hepatic cysts	OMIM:617425
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia, Splenomegaly...	ORPHA:98849
Williams Syndrome	Colonic diverticula, Low-set, posteriorly rotated ears, Failure to thrive in infancy, Peptic ulce...	ORPHA:904
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, ...	ORPHA:199299
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Abnormal vestibular function, Peripheral axonal neuropathy, Intestinal pseudo-obstruction, Sensor...	OMIM:607459
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen...	ORPHA:79330
Sarcoidosis	Increased T cell count, Leukopenia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Hyperthyroidi...	ORPHA:797
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Musk, Inability To Smell	Blindness	OMIM:254150
Acute Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Fat malabsorption, ...	ORPHA:731
Night Blindness, Congenital Stationary, Type 1B	Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n...	OMIM:257270
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Perianal abscess, Weight loss, Iron deficiency anemia, Inflammation of the lar...	OMIM:301074
Felty Syndrome	Splenomegaly, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypocellularity, Neutropenia, Chr...	ORPHA:47612
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lymphangiectas...	ORPHA:1655
Cogan Syndrome	Blindness, Leukocytosis, Reduced visual acuity, Photophobia, Thrombocytosis, Anemia	ORPHA:1467
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Leukocytosis, Hypereosinophilia, Weight loss	ORPHA:2902
Pineoblastoma	Papilledema, Amaurosis fugax, Paralysis, Progressive visual field defects, Reduced visual acuity,...	ORPHA:251909
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Vertigo, Weight loss, Ga...	ORPHA:679
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Failure to thrive, Duodenitis	OMIM:614328
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Vertigo, Acute leukemia, Weight loss, Tinnitus	ORPHA:729
Bronchogenic Cyst	Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology	ORPHA:2357
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Optic atrophy, Cerebral atrophy, Weight loss, Hepatosplenomegaly, Lateral ventr...	OMIM:619487
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Hepa...	ORPHA:1333
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e...	OMIM:619573
Neuroblastoma, Susceptibility To, 1	Horner syndrome, Weight loss, Failure to thrive, Ganglioneuroma, Anemia	OMIM:256700
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Reticulocytosis, Lymphopenia, Anorexia, Aggressive beh...	ORPHA:99826
Hepatoerythropoietic Porphyria	Hemolytic anemia, Blindness, Splenomegaly, Paresthesia, Increased fecal porphyrin, Erythroid hype...	ORPHA:95159
Neuroendocrine Tumor Of The Colon	Chronic noninfectious lymphadenopathy, Weight loss, Melena, Atypical pulmonary carcinoid tumor, C...	ORPHA:100080
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ...	OMIM:115470
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Peripheral demyelination, EEG abnormality	ORPHA:206448
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Howell-Jolly bodies, Xero...	ORPHA:85443
Herpes Simplex Virus Stromal Keratitis	Blindness, Reduced visual acuity	ORPHA:137599
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Hypertonia, High palate	ORPHA:96123
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin concentration, ...	ORPHA:90363
Grfoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati...	ORPHA:97261
Igg4-Related Aortitis	Intestinal obstruction, Hypereosinophilia, Weight loss	ORPHA:449400
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Wilson Disease	Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:905
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hemolytic anemia, Myopia, Amblyopia, Retinal arteriolar tortuosity, Focal-ons...	OMIM:175780
Focal Myositis	Weight loss	ORPHA:48918
Plasminogen Deficiency, Type I	Blindness, Duodenal ulcer	OMIM:217090
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Dextrocardia	Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hyp...	ORPHA:1666
Castleman Disease	Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, F...	ORPHA:160
Neuroendocrine Tumor Of The Rectum	Chronic noninfectious lymphadenopathy, Weight loss, Hematochezia, Melena, Atypical pulmonary carc...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Chronic noninfectious lymphadenopathy, Weight loss, Hematochezia, Melena, Atypical pulmonary carc...	ORPHA:100082
Perry Syndrome	Weight loss	ORPHA:178509
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Vertigo, Lymphadenopathy, Weight loss, Leukopenia, ...	ORPHA:520
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Anorexia, Foll...	OMIM:619381
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress...	ORPHA:652
Vipoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Malabsorption, Incre...	ORPHA:97282
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytop...	OMIM:617591
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision	ORPHA:566
Ppoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati...	ORPHA:97278
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Goiter	OMIM:188580
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Acute colitis, Leukocytosis, Gastrointestinal dysmotility, Weight loss, A...	ORPHA:67
Oculopharyngodistal Myopathy 1	Facial palsy, Sensorineural hearing impairment, Weight loss, High palate, Brain atrophy, Dysphagia	OMIM:164310
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Vertigo, Chronic myelogenous leukemia, Weight loss, Hyperhi...	ORPHA:71493
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Blindness, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Visual loss, Xerostomia, ...	ORPHA:95455
Acute Radiation Syndrome	Seizure, Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Mend Syndrome	Abnormal auditory evoked potentials, Cryptorchidism, Cleft palate, High palate, Low-set ears, Fai...	ORPHA:401973
Marfan Syndrome	High, narrow palate, Cachexia, Slender build, Cleft palate	ORPHA:558
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,...	OMIM:250410
Fanconi Anemia	Abnormality of vision, Leukopenia, Abnormality of the liver, High palate, Abnormality of the hypo...	ORPHA:84
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Anemia, Weight loss	ORPHA:324964
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Blindness, Optic nerve dysplasia, Seizure, Retinal dysplasia, Spasticity, Decreased testicular size	OMIM:615287
Saul-Wilson Syndrome	Nyctalopia, Neutropenia	OMIM:618150
Neuroendocrine Tumor Of Stomach	Chronic noninfectious lymphadenopathy, Hematemesis, Weight loss, Melena, Iron deficiency anemia, ...	ORPHA:100075
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Celiac disease, Weight loss, Iron deficiency anemia, Steatorrhea, Thrombocytos...	OMIM:212750
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Goiter	OMIM:613239
Renpenning Syndrome 1	Blindness, Cleft palate, Cerebral atrophy, Hypermetropia, Seizure, High palate, Spasticity, Decre...	OMIM:309500
17Q11 Microdeletion Syndrome	Blindness, Abnormal central motor function, Gastrointestinal stroma tumor, Retinal vascular proli...	ORPHA:97685
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Weig...	ORPHA:99867
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Protein-losing enteropathy	OMIM:618154
Primary Sjögren Syndrome	Normocytic anemia, Somatic sensory dysfunction, Chronic active hepatitis, Abnormality of the peri...	ORPHA:289390
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Facial palsy, Amblyopia, Hypothyroidism...	OMIM:620186
Fraser Syndrome 1	Abnormal small intestine morphology, Blindness, Cryptorchidism, Cleft palate, Seizure, Abnormal t...	OMIM:219000
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Hennekam Syndrome	Malabsorption, Pyloric stenosis, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Seizu...	ORPHA:2136
Fusariosis	Brain abscess, Lung abscess, Abnormal retinal morphology, Abnormality of the spleen, Peritonitis,...	ORPHA:228119
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h...	OMIM:301000
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Lymphadenopathy	ORPHA:411703
Nodular Non-Suppurative Panniculitis	Splenomegaly, Panniculitis, Weight loss	ORPHA:33577
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Ova...	ORPHA:744
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness, Oral leukoplakia, Furrowed tongue	OMIM:148210
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Blindness, Amblyopia, Cryptorchidism, Visual loss, Submucous cleft hard palate, Cleft palate, Hyp...	ORPHA:2250
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Klatskin Tumor	Cholangiocarcinoma, Weight loss, Lymphadenopathy	ORPHA:99978
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
8P23.1 Microdeletion Syndrome	External ear malformation, Cryptorchidism, Obesity, Weight loss, High palate, Low-set ears	ORPHA:251071
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Lymphadenopa...	ORPHA:100078
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Weight loss, Abnormal lymph node morphology, Abnormal testis morphology, Anemia	ORPHA:54251
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Blindness, Narrow palate, High myopia	OMIM:277600
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Abnormality of the autonomic n...	OMIM:611376
Fryns Syndrome	Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Large for gestational a...	OMIM:229850
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Pancytopen...	OMIM:615846
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Osteoporosis-Pseudoglioma Syndrome	Blindness, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Focal impaired awaren...	OMIM:259770
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of vision, Blindness	ORPHA:1806
Somatostatinoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati...	ORPHA:97283
Yao Syndrome	Xerostomia, Weight loss	OMIM:617321
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Thrombocytopenia, Neutropenia...	ORPHA:537
Generalized Pustular Psoriasis	Overweight, Leukocytosis, Obesity, Lymphopenia, Geographic tongue	ORPHA:247353
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Retinal detachment, Blindness, Myopia	OMIM:225400
Pierson Syndrome	Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ...	OMIM:609049
Osteosarcoma	Weight loss	ORPHA:668
Rodrigues Blindness	Blindness	OMIM:268320
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Inflammatory Pseudotumor Of The Liver	Neoplasm of the liver, Weight loss	ORPHA:90003
Primary Hepatic Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Weight loss, Neoplasm of the liver, Neuroendocrine neoplas...	ORPHA:100085
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Splenomegaly, Weight loss, Hepatocellular carcinoma, Testicular atrophy	ORPHA:465508
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia	OMIM:620365
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Weight loss	ORPHA:79242
Glucagonoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Elevated circulati...	ORPHA:97280
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Failure to thrive in infancy, Weight loss	ORPHA:171876
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Hypersplenism, Splenomega...	OMIM:301068
Short Syndrome	Sensorineural hearing impairment, Weight loss	ORPHA:3163
Liposarcoma	Weight loss	ORPHA:69078
Bullous Pemphigoid	Weight loss	ORPHA:703
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lymphocytosis, El...	OMIM:619991
Fuchs Endothelial Corneal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity	ORPHA:98974
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Poems Syndrome	Papilledema, Weight loss, Lymphadenopathy, Thrombocytosis, Polycythemia, Increased circulating pr...	ORPHA:2905
Polymyositis	Gastrointestinal hemorrhage, Gastroesophageal reflux, Weight loss	ORPHA:732
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Cerebral atrophy	OMIM:619036
Scedosporiosis	Diabetes mellitus, Abnormal jejunum morphology	ORPHA:449280
Dermatoosteolysis, Kirghizian Type	Nyctalopia	ORPHA:1657
Microphthalmia, Syndromic 1	Blindness, Aganglionic megacolon, Aggressive behavior, High, narrow palate, Rectal prolapse, Cryp...	OMIM:309800
Weill-Marchesani Syndrome 2	Blindness, Patent ductus arteriosus, Narrow palate, High myopia, High palate	OMIM:608328
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100086
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis...	OMIM:613471
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Asplenia, Esophageal atresia, Patent ductus arteriosus, Pulmonary lymphan...	OMIM:265380
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Abnormal earlobe morphology, Duodenal ste...	ORPHA:141127
Bronchial Neuroendocrine Tumor	Pulmonary carcinoid tumor, Chronic noninfectious lymphadenopathy, Elevated circulating growth hor...	ORPHA:97287
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Weight loss, Pancreatic hypoplasia, Failure to thrive, Hearing impa...	ORPHA:99885
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Small for gestational age, Maternal diabetes, Patent d...	ORPHA:1708
Truncus Arteriosus	Patent ductus arteriosus, Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal ...	ORPHA:2847
Caroli Disease	Cholangiocarcinoma, Splenomegaly, Leukocytosis, Esophageal varix, Weight loss, Cholelithiasis	ORPHA:53035
Senior-Loken Syndrome 3	Visual loss, Polydipsia, Congenital blindness	OMIM:606995
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Vertigo, Weight loss, Ovarian neoplasm, Anemia	ORPHA:370348
Adrenocortical Carcinoma	Hyperhidrosis, Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss	ORPHA:1501
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Weight loss, Hypsarrhythmia, Leukopenia, EEG abnormality, Thrombocytosis, Anemia	ORPHA:20
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Microphthalmia, Syndromic 6	Myopia, Blindness, Retinal dystrophy, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Mi...	OMIM:607932
Addison Disease	Normocytic anemia, Hypoparathyroidism, Orthostatic hypotension, Primary testicular failure, Celia...	ORPHA:85138
Brucellosis	Abnormality of the gastrointestinal tract, Small for gestational age, Abnormality of the peripher...	ORPHA:1304
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia	ORPHA:424
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr...	OMIM:155310
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Esophageal stricture, ...	ORPHA:36426
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Patent ductus arteriosus, Cleft p...	OMIM:274000
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Solitary Fibrous Tumor	Neoplasm of the liver, Weight loss	ORPHA:2126
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Pemphigus Vulgaris	Weight loss	ORPHA:704
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Weight loss, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Renal Nutcracker Syndrome	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Anemia, Weight loss	ORPHA:71273
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Cystic Echinococcosis	Eosinophilia, Abnormality of the testis size, Weight loss, Ovarian cyst, Splenic cyst	ORPHA:400
Malt Lymphoma	Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss, Lymphadenopathy, Anemia	ORPHA:52417
Primary Sclerosing Cholangitis	Cholangiocarcinoma, Abnormal eosinophil morphology, Hepatocellular carcinoma, Celiac disease, Spl...	ORPHA:171
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Retinal detachment, Myopia, Intestinal malrotation, Hiatus hernia, Dysesthesia, Cryptorchidism, C...	OMIM:601776
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,...	ORPHA:2298
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm...	ORPHA:143
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Rheumatoid Arthritis	Weight loss	OMIM:180300
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Weight loss, Gastrointestinal hemorrhage, Chronic lymp...	ORPHA:91139
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Mediastinal lymphadenopathy, Splenom...	OMIM:181000
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Failure to thrive, Weight loss	ORPHA:79128
Familial Glucocorticoid Deficiency	Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive	ORPHA:361
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Weight loss, Neutropenia, Malabsorption	ORPHA:79430
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Iron deficiency anemia, Colitis, Steatorrhea	ORPHA:309031
Arteriosclerosis, Severe Juvenile	Gastric ulcer, Anemia	OMIM:208060
Tropical Endomyocardial Fibrosis	Splenomegaly, Eosinophilia, Cachexia	ORPHA:75565
Charge Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Parathyroid hypop...	OMIM:214800
Multiple Myeloma	Splenomegaly, Functional abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy,...	ORPHA:29073
Menke-Hennekam Syndrome 1	Blindness, Cryptorchidism, Hypermetropia, Cleft palate, Seizure, Gastroesophageal reflux, High pa...	OMIM:618332
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Weight loss	ORPHA:134
Familial Gestational Hyperthyroidism	Goiter, Weight loss, Thyroid hyperplasia	ORPHA:99819
Acute Adrenal Insufficiency	Normocytic anemia, Orthostatic hypotension, Vertigo, Weight loss, Failure to thrive	ORPHA:95409
Mucolipidosis Type Ii	Splenomegaly, Sensorineural hearing impairment, Hepatosplenomegaly, Weight loss, Otitis media, Co...	ORPHA:576
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Intestinal obstruction, Sensorineural hearing impairment, Weight los...	ORPHA:900
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Thrombocytopenia, Cervica...	ORPHA:50918
Alveolar Echinococcosis	Eosinophilia, Pancreatic cysts, Vertigo, Weight loss, Abnormal spleen morphology, Anemia	ORPHA:284
Wolf-Hirschhorn Syndrome	Accessory spleen, Small for gestational age, Precocious puberty, Cryptorchidism, Malrotation of s...	OMIM:194190
Thyrotoxic Periodic Paralysis	Hyperhidrosis, Obesity, Abnormality of peripheral nerve conduction, Weight loss	ORPHA:79102
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Coffin-Siris Syndrome 1	Duodenal ulcer, Intestinal malrotation, Abnormal pinna morphology, Posteriorly rotated ears, Cryp...	OMIM:135900
Q Fever	Splenomegaly, Lymphadenopathy, Anemia, Hepatosplenomegaly, Weight loss, Thrombocytopenia	ORPHA:781
Fraser Syndrome	Anal stenosis, Blindness, Cryptorchidism, Ectopic anus, High palate, Bifid tongue, Anal atresia	ORPHA:2052
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Hyperhidrosis, Gastric ulcer, Gastric hypertrophy	OMIM:161700
Diarrhea 10, Protein-Losing Enteropathy Type	Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hematochezia, Pro...	OMIM:618183
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Weight loss, Dysphagia	ORPHA:93672
Tropical Pancreatitis	Pancreatic adenocarcinoma, Abnormal pancreatic duct morphology, Pancreatic calcification, Weight ...	ORPHA:103918
Viss Syndrome	Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Hypoth...	OMIM:619472
Granulomatosis With Polyangiitis	Chronic otitis media, Granulomatosis, Weight loss	OMIM:608710
Pancreatoblastoma	Weight loss, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Corneodermatoosseous Syndrome	Photophobia, Nyctalopia, Hemeralopia	ORPHA:3194
Erdheim-Chester Disease	Hyperhidrosis, Anemia, Weight loss	ORPHA:35687
Postinfectious Vasculitis	Abnormality of the peripheral nervous system, Orchitis, Weight loss, Gastrointestinal inflammatio...	ORPHA:48435
Rat-Bite Fever	Anemia, Lymphadenitis, Parotitis, Weight loss	ORPHA:31205
Pyomyositis	Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Riddle Syndrome	Generalized lymphadenopathy, Otitis media, Weight loss	ORPHA:420741
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Reactive Arthritis	Inflammation of the large intestine, Weight loss	ORPHA:29207
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Chronic Graft Versus Host Disease	Pancytopenia, Esophageal stricture, Xerostomia, Weight loss, Abnormal esophagus morphology, Gastr...	ORPHA:99921
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Hydrocele testis, Weight loss	ORPHA:49041
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive, High palate, Dysphagia	ORPHA:2020
Hutchinson-Gilford Progeria Syndrome	High-frequency sensorineural hearing impairment, Prominent ear helix, Low-frequency sensorineural...	ORPHA:740
Dermatomyositis	Gastrointestinal stroma tumor, Abnormal eosinophil morphology, Weight loss	ORPHA:221
Igg4-Related Kidney Disease	Eosinophilia, Lymphadenitis, Abnormality of the anterior pituitary, Lymphadenopathy, Weight loss,...	ORPHA:449395
African Trypanosomiasis	Papilledema, Splenomegaly, Hepatosplenomegaly, Weight loss, Abnormal prolactin level, Lymphadenop...	ORPHA:3385
Pulmonary Alveolar Microlithiasis	Testicular microlithiasis, Weight loss	ORPHA:60025
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Weight loss, Normochromic anemia, Reduced hematocrit	ORPHA:91500
Nocardiosis	Lymphadenitis, Weight loss	ORPHA:31204
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased testicular size, Failure to thrive, Testicular adrenal rest tumor, Weight loss	ORPHA:90794
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450

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 Ctsd

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 Ctsd.

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

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

MGI Allele	Allele Type	Produced
Ctsd^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ctsd^{tm41779(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ctsd^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ctsd^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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: Ctsd MGI:88562

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Ctsd mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data