Unmet Medical Needs

This automatically generated dataset of unmet medical needs is compiled based on literature research and is provided for informational purposes only. While efforts have been made to ensure accuracy and comprehensiveness, the dataset may include inaccuracies, omissions, or biases inherent in the source materials. It should not be used as the basis for clinical, commercial, or policy decisions. Users are advised to consult relevant experts and primary sources to verify the information.

22q11.2 deletion syndrome

3-methylglutaconic aciduria type 4

46,XY disorder of sex development due to isolated 17,20 lyase deficiency

ABeta amyloidosis, Iowa type

Abnormal circulating thyroid hormone concentration

Abnormality on pulmonary function testing

Accommodative esotropia

acral lentiginous melanoma

Acromesomelic dysplasia, Hunter-Thomson type

Acute hepatitis

acute inflammatory response

acute myeloid leukemia, KIT exon 8 mutation

Adult-onset dystonia-parkinsonism

age of onset of migraine without aura

Albright hereditary osteodystrophy

Alpha-1-antitrypsin deficiency

alveolar soft part sarcoma

American College of Rheumatology Improvement Criteria

amino-acid transport disorder

amyotrophic lateral sclerosis-parkinsonism-dementia complex

Angelman syndrome due to paternal uniparental disomy of chromosome 15

anxiety disorder

arterial disorder

atypical hemolytic-uremic syndrome with thrombomodulin anomaly

Au-Kline syndrome

auditory system disease

autosomal dominant cerebellar ataxia type III

Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome

autosomal recessive limb-girdle muscular dystrophy type 2P

autosomal recessive Parkinson disease 14

Autosomal recessive spastic paraplegia type 14

Balkan nephropathy

bartonella seropositivity

basal ganglia disease

behavioral variant of frontotemporal dementia

benign neoplasm of nasopharynx

bilirubin transport

Blastocystis hominis infectious disease

blepharophimosis-impaired intellectual development syndrome

blood circulation

blood coagulation

Blood group antigen abnormality

brain development

canonical NF-kappaB signal transduction

carbohydrate transport

carcinoma in situ of cecum

Cataract - intellectual disability - anal atresia - urinary defects

cataracts, hearing impairment, nephrotic syndrome, and enterocolitis

CD40 signaling pathway

cell activation

cell communication

cell population proliferation

cellular component organization

central nervous system development

Charcot-Marie-Tooth disease, axonal, type 2EE

childhood central nervous system embryonal carcinoma

Chondrodysplasia - disorder of sex development

chromosome 4 short arm deletion

chronic hepatitis C virus infection

chronic venous hypertension

circadian rhythm

clear cell sarcoma of the kidney

cobalamin transport

Cochleosaccular degeneration - cataract

colorblindness, partial

commensal Clostridium infectious disease

common bile duct disorder

complement activation

complement activation, lectin pathway

concentration of small VLDL particles

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

congenital insensitivity to pain-hypohidrosis syndrome

corneal neovascularization

craniosynostosis 6

craniosynostosis-intracranial calcifications syndrome

Crohn's disease of both small and large intestine with abscess

Crohn's disease of both small and large intestine with fistula

Crohn's disease of both small and large intestine with intestinal obstruction

Crohn's disease of both small and large intestine with other complication

Crohn's disease of both small and large intestine with rectal bleeding

Crohn's disease of both small and large intestine with unspecified complications

Crohn's disease of both small and large intestine without complications

Crohn's disease of large intestine with abscess

Crohn's disease of large intestine with fistula

Crohn's disease of large intestine with intestinal obstruction

Crohn's disease of large intestine with other complication

Crohn's disease of large intestine with rectal bleeding

Crohn's disease of large intestine with unspecified complications

Crohn's disease of large intestine without complications

Crohn's disease of small intestine with abscess

Crohn's disease of small intestine with fistula

Crohn's disease of small intestine with intestinal obstruction

Crohn's disease of small intestine with other complication

Crohn's disease of small intestine with rectal bleeding

Crohn's disease of small intestine with unspecified complications

Crohn's disease of small intestine without complications

Crohn's disease, unspecified, with abscess

Crohn's disease, unspecified, with fistula

Crohn's disease, unspecified, with intestinal obstruction

Crohn's disease, unspecified, with other complication

Crohn's disease, unspecified, with rectal bleeding

Crohn's disease, unspecified, with unspecified complications

Crohn's disease, unspecified, without complications

cutaneous mucoepidermoid carcinoma

delusional disorder

dependent personality disorder

desmoplastic melanoma

developmental and epileptic encephalopathy, 19

developmental defect of the eye

developmental process involved in reproduction

diabetic macular edema

diffuse large B-cell lymphoma

digestive duplication cyst of the tongue

Disorder of sex development - intellectual disability

Dowling-Degos disease

Duane retraction syndrome 3 with or without deafness

ectoderm and mesoderm interaction

encephalopathy, progressive, with amyotrophy and optic atrophy

End Stage Liver Disease

facial nerve neoplasm

facial onset sensory and motor neuronopathy

factor V deficiency

familial adenomatous polyposis 1

Familial afibrinogenemia

Familial amyloidosis, Finnish type

familial benign flecked retina

familial infantile gigantism

fatty acid oxidation

female pregnancy

folic acid transport

Fraser syndrome

Fuchs endothelial corneal dystrophy

fundus albipunctatus

gangrenous appendicits

gastric teratoma

gastro-intestinal system smooth muscle contraction

gastroduodenal Crohn disease

Gaucher disease

Gaucher disease - ophthalmoplegia - cardiovascular calcification

Gaucher disease type 1

Gaucher disease type 2

Gaucher disease type 3

generation of precursor metabolites and energy

gluconeogenesis

gonococcal cystitis

gonococcal keratitis

granular corneal dystrophy type I

heart development

hereditary angioedema type 3

Hereditary late-onset Parkinson disease

heritable pulmonary arterial hypertension

hormone-mediated signaling pathway

human herpesvirus 8 seropositivity

human papillomavirus-related squamous cell carcinoma

hydrolethalus syndrome

hypersensitivity

Increased circulating ACTH level

inflammatory response

inherited epidermolysis bullosa

initial pursuit acceleration

insulin secretion

insulin-resistance syndrome type A

intellectual disability-hypotonic facies syndrome, X-linked, 1

Intellectual disability, moderate

intestinal disease

intracellular copper ion homeostasis

iron ion transport

Isolated distichiasis

isolated microphthalmia

Ito hypomelanosis

jejunal neoplasm

juvenile onset pityriasis rubra pilaris

juxtacortical osteosarcoma

Kaposi sarcoma, susceptibility to

Keutel syndrome

Kidney Medullary Carcinoma

latitude coordinate measurement datum

lean mass-adjusted fat body mass

lethal congenital contracture syndrome 1

leukoplakia of penis

lipid localization

liver angiosarcoma

Lymphoma, AIDS-Related

lysosomal transport

Macrocephaly - immune deficiency - anemia

magnesium ion homeostasis

magnesium ion transport

microcephalic primordial dwarfism

microcephaly and chorioretinopathy

microphthalmia, isolated, with coloboma

microspherophakia-metaphyseal dysplasia syndrome

microtubule cytoskeleton organization

microvillus inclusion disease

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

mitochondrial genome maintenance

mitotic cell cycle

mitotic spindle organization

mosaic trisomy 13

mosaic variegated aneuploidy syndrome

mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition

multiple endocrine neoplasia type 2

multiple mitochondrial dysfunctions syndrome 2

myeloid sarcoma

myopathy caused by variation in POMGNT1

myopathy caused by variation in POMT1

natural killer cell activation

negative regulation of blood coagulation

negative regulation of gastric emptying

negative regulation of leukocyte activation

neonatal abstinence syndrome

Neonatal inspiratory stridor

Nephrosis - deafness - urinary tract - digital malformations

nephrotic syndrome 16

neural crest cell development

neurodevelopmental disorder with dysmorphic facies and variable seizures

neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

Neurofibromatosis type 1 due to NF1mutation or intragenic deletion

neuron migration

neutral amino acid transport

neutropenia, severe congenital, 2, autosomal dominant

Non-accomodative esotropia

Non-dystrophic myopathy with collagen 6 anomaly

Noonan syndrome 3

nucleotide-excision repair

oligoastrocytoma

oligocone trichromacy

oral squamous cell carcinoma

organelle organization

Ossifying Fibromyxoid Tumor

osteitis deformans

Other ulcerative colitis with abscess

Other ulcerative colitis with fistula

Other ulcerative colitis with intestinal obstruction

Other ulcerative colitis with other complication

Other ulcerative colitis with rectal bleeding

Other ulcerative colitis with unspecified complications

Other ulcerative colitis without complications

Ovarian Serous Adenocarcinofibroma

oxidative phosphorylation

pancreatic juice secretion

papillary renal cell carcinoma

Paranasal Sinus Adenoid Cystic Carcinoma

pediatric leptomeningeal melanoma

Penile hypospadias

peripheral nervous system disease

Peters anomaly - cataract

phagocytosis, engulfment

PLA2G6-associated neurodegeneration

platelet activation

platelet larger cell ratio

postinfectious encephalitis

premature ejaculation

Primary Intraosseous Squamous Cell Carcinoma

progressive external ophthalmoplegia with mitochondrial DNA deletions

Progressive muscle weakness

Progressive supranuclear palsy - parkinsonism

protein deglycosylation

protein glycosylation

protein localization

protein N-linked glycosylation

protein O-linked glycosylation

protein secretion

protein transport

pulmonary sarcoidosis

pycnodysostosis

pyogenic granuloma

pyruvate dehydrogenase E1-beta deficiency

Rapid-onset dystonia-parkinsonism

Rare genetic bone development disorder

Ras protein signal transduction

rectum lymphoma

refractory anemia

regulation of cell adhesion

regulation of gene expression

regulation of heart contraction

regulation of leukocyte activation

regulation of mitotic nuclear division

regulation of muscle contraction

regulation of pH

regulation of platelet activation

regulation of vasoconstriction

renal water retention

respiratory gaseous exchange by respiratory system

retinitis pigmentosa 59

revision of total knee arthroplasty

secondary Parkinson disease

sensory perception

sensory perception of pain

sensory perception of smell

sensory perception of sound

sex differentiation

signal transduction

skin pigmentation

Small Intestinal Diffuse Large B-Cell Lymphoma

smooth muscle contraction

spastic paraplegia 90B, autosomal recessive

spindle cell intraocular melanoma

spindle organization

squamous cell carcinoma of gallbladder and extrahepatic biliary tract

Subcutaneous neurofibroma

Subcutaneous Panniculitis-Like T-Cell Lymphoma

syndromic X-linked intellectual disability 12

syndromic X-linked intellectual disability Claes-Jensen type

synucleinopathy

tarsal kink syndrome

thiamine transport

thrombocytopenia 3

thrombocytopenic purpura

Thyroid Gland Diffuse Large B-Cell Lymphoma

transcobalamin I deficiency

tricarboxylic acid cycle

trichothiodystrophy

trypanosomiasis

tuberculous salpingitis

type 1 interferonopathy

type I hypersensitivity

type II hypersensitivity

type III hypersensitivity

type IV hypersensitivity

Ulcerative colitis, unspecified with abscess

Ulcerative colitis, unspecified with fistula

Ulcerative colitis, unspecified with intestinal obstruction

Ulcerative colitis, unspecified with other complication

Ulcerative colitis, unspecified with rectal bleeding

Ulcerative colitis, unspecified with unspecified complications

Ulcerative colitis, unspecified, without complications

urethral urothelial papilloma

urinary tract smooth muscle contraction

uterine sarcoma

vasopressin secretion

visual perception

vitelliform macular dystrophy

vitreous body disease

vulvar granular cell tumor

X-linked distal hereditary motor neuropathy

X-linked intellectual disability - craniofacioskeletal syndrome

X-linked recessive intellectual disability - macrocephaly - ciliary dysfunction

yolk sac tumor of central nervous system

Young adult-onset Parkinsonism

EFO

acquired cutis laxa

age of onset of Parkinson disease

Albinism-deafness syndrome

alcoholic liver disease

alopecia areata

Alpha-1-antitrypsin deficiency

Alymphoid cystic thymic dysgenesis

anal canal carcinoma

Arthrogryposis-like hand anomaly - sensorineural deafness

autonomic nervous system disease

Autosomal dominant cerebellar ataxia type 4

autosomal dominant optic atrophy plus syndrome

autosomal recessive nonsyndromic hearing loss 63

Autosomal recessive spastic paraplegia type 62

benign soft tissue neoplasm

Beta-thalassemia associated with another hemoglobin anomaly

blepharocheilodontic syndrome

colon medullary carcinoma

congenital microcoria

congenital thrombotic thrombocytopenic purpura

Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder

cortical thymoma

Desmoplastic Ameloblastoma

diaphyseal medullary stenosis-bone malignancy syndrome

diffuse large B-cell lymphoma

diphyllobothriasis

disorder of appendix

disturbances of sensation of smell and taste

Endometrial Hyperplasia without Atypia

epithelial tumor of the appendix

eyelid melanoma

facial nerve disease

fecal incontinence

gastrointestinal anthrax

Generalized congenital lipodystrophy with myopathy

glomerular disease

hemangiopericytoma of skin

Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies

hereditary breast ovarian cancer syndrome

Huntington disease-like 3

Hyperlipoproteinemia type 4

hypertrophic cardiomyopathy

Hypotonia - cystinuria syndrome

infectious mononucleosis

inherited cutis laxa

juvenile-onset Parkinson disease

kidney neoplasm

late-onset Parkinson disease

liver extraskeletal osteosarcoma

Lung Sarcomatoid Carcinoma

lymphatic system disease

major salivary gland cancer

malignant mesenchymoma

maxillary sinus squamous cell carcinoma

Metaphyseal dysostosis - intellectual disability - conductive deafness

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Mitochondrial myopathy and sideroblastic anemia

noise-induced hearing loss

Non-acquired isolated growth hormone deficiency

oculomotor nerve cancer

ovarian papillary tumor

Parkinson disease

parkinson disease 19B, early-onset

parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development

Parkinson disease, dominant

Parkinson disease, mitochondrial

paroxysmal tachycardia

Peliosis Hepatis

persistent fetal circulation syndrome

PLCG2-associated antibody deficiency and immune dysregulation

postencephalitic Parkinson disease

progesterone-receptor negative breast cancer

Proximal spinal muscular atrophy type 3

Radio-ulnar synostosis - amegakaryocytic thrombocytopenia

Rare hemorrhagic disorder due to a constitutional platelet anomaly

reactive arthritis

Recurrent infections - inflammatory syndrome due to zinc metabolism disorder

renovascular hypertension

retinal neuroblastoma

Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism

retinitis pigmentosa 92

rhabdomyosarcoma of the cervix uteri

round cell liposarcoma

Sandhoff disease, infantile form

sudden hearing loss disorder

syndromic X-linked intellectual disability Shrimpton type

Truncal dystonia

Unclassified intestinal pseudoobstruction

vibratory urticaria

X-linked intellectual disability, Schutz type

X-linked spastic paraplegia type 16

young-onset Parkinson disease